Variant report

Variant	nsv872438
Chromosome Location	chr1:151377407-151413180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:183)
Chromatin interactive
region (count:85)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:151405126-151405250	K562	blood:	n/a	n/a
2	BACH1	chr1:151405549-151405676	K562	blood:	n/a	n/a
3	CEBPB	chr1:151388736-151389119	Hela-S3	cervix:	n/a	chr1:151388928-151388939
4	CEBPB	chr1:151388780-151389068	HepG2	liver:	n/a	chr1:151388928-151388939
5	CEBPB	chr1:151388793-151389072	K562	blood:	n/a	chr1:151388928-151388939
6	CEBPB	chr1:151388608-151389348	MCF-7	breast:	n/a	chr1:151388928-151388939
7	CEBPB	chr1:151388798-151388978	HepG2	liver:	n/a	chr1:151388928-151388939
8	CEBPB	chr1:151392443-151392803	A549	lung:	n/a	chr1:151392614-151392625
9	CEBPB	chr1:151392486-151392705	K562	blood:	n/a	chr1:151392614-151392625
10	CEBPB	chr1:151407534-151408096	MCF-7	breast:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
11	CEBPB	chr1:151392484-151392703	IMR90	lung:	n/a	chr1:151392614-151392625
12	CEBPB	chr1:151407724-151407933	A549	lung:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
13	CEBPB	chr1:151388726-151389184	ECC-1	luminal epithelium:	n/a	chr1:151388928-151388939
14	CEBPB	chr1:151392464-151392882	MCF-7	breast:	n/a	chr1:151392614-151392625
15	CEBPB	chr1:151388713-151389111	ECC-1	luminal epithelium:	n/a	chr1:151388928-151388939
16	CEBPB	chr1:151407815-151407820	K562	blood:	n/a	n/a
17	CEBPB	chr1:151407654-151407997	IMR90	lung:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
18	CEBPB	chr1:151388844-151389108	A549	lung:	n/a	chr1:151388928-151388939
19	CEBPB	chr1:151388787-151389075	K562	blood:	n/a	chr1:151388928-151388939
20	CEBPB	chr1:151388769-151389110	HepG2	liver:	n/a	chr1:151388928-151388939
21	CEBPB	chr1:151388589-151389285	MCF-7	breast:	n/a	chr1:151388928-151388939
22	CEBPB	chr1:151388736-151389126	IMR90	lung:	n/a	chr1:151388928-151388939
23	CEBPB	chr1:151407641-151407943	MCF-7	breast:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
24	CEBPB	chr1:151388768-151389111	H1-hESC	embryonic stem cell:	n/a	chr1:151388928-151388939
25	CEBPB	chr1:151388780-151389091	A549	lung:	n/a	chr1:151388928-151388939
26	CEBPB	chr1:151407559-151408104	A549	lung:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
27	CEBPB	chr1:151388665-151389113	A549	lung:	n/a	chr1:151388928-151388939
28	CEBPB	chr1:151392510-151392715	HepG2	liver:	n/a	chr1:151392614-151392625
29	CHD1	chr1:151388726-151389192	IMR90	lung:	n/a	n/a
30	CTCF	chr1:151397975-151398022	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr1:151413140-151413290	MCF-7	breast:	n/a	chr1:151413228-151413249
32	CUX1	chr1:151398169-151398295	GM12878	blood:	n/a	n/a
33	E2F4	chr1:151407804-151407964	MCF10A-Er-Src	breast:	n/a	n/a
34	EBF1	chr1:151390586-151390827	GM12878	blood:	n/a	n/a
35	EBF1	chr1:151409896-151410152	GM12878	blood:	n/a	n/a
36	EBF1	chr1:151390581-151390892	GM12878	blood:	n/a	n/a
37	EP300	chr1:151388837-151389060	Hela-S3	cervix:	n/a	n/a
38	FOS	chr1:151388921-151388949	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr1:151389275-151389453	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr1:151388802-151389069	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr1:151388915-151388978	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr1:151407687-151408002	MCF10A-Er-Src	breast:	n/a	chr1:151407867-151407879 chr1:151407869-151407877
43	FOS	chr1:151407687-151408018	MCF10A-Er-Src	breast:	n/a	chr1:151407867-151407879 chr1:151407869-151407877
44	FOS	chr1:151389309-151389413	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr1:151407690-151407993	MCF10A-Er-Src	breast:	n/a	chr1:151407867-151407879 chr1:151407869-151407877
46	FOS	chr1:151407689-151408003	MCF10A-Er-Src	breast:	n/a	chr1:151407867-151407879 chr1:151407869-151407877
47	FOS	chr1:151389283-151389411	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr1:151388809-151389029	MCF10A-Er-Src	breast:	n/a	n/a
49	FOSL2	chr1:151381255-151381773	SK-N-SH	brain:	n/a	chr1:151381434-151381446 chr1:151381525-151381535 chr1:151381525-151381535 chr1:151381525-151381535
50	FOSL2	chr1:151407684-151407993	A549	lung:	n/a	chr1:151407867-151407879 chr1:151407869-151407877

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151402121-151402171	MCF-7	breast:	n/a
2	chr1:151400745-151400795	SK-N-SH_RA	brain:	n/a
3	chr1:151400745-151400795	HEEpiC	esophagus:	n/a
4	chr1:151400745-151400795	MCF10A-Er-Src	breast:	n/a
5	chr1:151399683-151399733	Jurkat	blood:	n/a
6	chr1:151400745-151400795	HRPEpiC	eye:	n/a
7	chr1:151400745-151400795	AG04450	lung:	fetal
8	chr1:151399683-151399733	HepG2	liver:	n/a
9	chr1:151402121-151402171	Jurkat	blood:	n/a
10	chr1:151399683-151399733	ProgFib	skin:	n/a
11	chr1:151399683-151399733	HRE	kidney:	n/a
12	chr1:151399683-151399733	AoSMC	blood vessel:	n/a
13	chr1:151399683-151399733	Caco-2	colon:	n/a
14	chr1:151400745-151400795	AG09309	skin:	n/a
15	chr1:151400745-151400795	HCPEpiC	choroid plexus:	n/a
16	chr1:151399683-151399733	IMR90	lung:	fetal
17	chr1:151399683-151399733	AG10803	skin:	n/a
18	chr1:151402121-151402171	ECC-1	luminal epithelium:	n/a
19	chr1:151400745-151400795	GM12891	blood:	n/a
20	chr1:151402121-151402171	AG04450	lung:	fetal
21	chr1:151399683-151399733	ECC-1	luminal epithelium:	n/a
22	chr1:151402121-151402171	AG09309	skin:	n/a
23	chr1:151400745-151400795	GM12892	blood:	n/a
24	chr1:151399683-151399733	GM12892	blood:	n/a
25	chr1:151399683-151399733	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:151399683-151399733	MCF10A-Er-Src	breast:	n/a
27	chr1:151402121-151402171	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:151400745-151400795	IMR90	lung:	fetal
29	chr1:151402121-151402171	IMR90	lung:	fetal
30	chr1:151400745-151400795	NT2-D1	testis:	n/a
31	chr1:151400745-151400795	HCT-116	colon:	n/a
32	chr1:151400745-151400795	HRE	kidney:	n/a
33	chr1:151400745-151400795	SK-N-SH	brain:	n/a
34	chr1:151399683-151399733	HCT-116	colon:	n/a
35	chr1:151399683-151399733	RPTEC	kidney:	n/a
36	chr1:151399683-151399733	SKMC	muscle:	n/a
37	chr1:151402121-151402171	GM19239	blood:	n/a
38	chr1:151402121-151402171	HCPEpiC	choroid plexus:	n/a
39	chr1:151399683-151399733	NHBE	bronchial:	n/a
40	chr1:151400745-151400795	NH-A	brain:	n/a
41	chr1:151400745-151400795	Jurkat	blood:	n/a
42	chr1:151399683-151399733	T-47D	breast:	n/a
43	chr1:151399683-151399733	GM19239	blood:	n/a
44	chr1:151399683-151399733	HRPEpiC	eye:	n/a
45	chr1:151402121-151402171	HIPEpiC	eye:	n/a
46	chr1:151399683-151399733	K562	blood:	n/a
47	chr1:151402121-151402171	Caco-2	colon:	n/a
48	chr1:151400745-151400795	Caco-2	colon:	n/a
49	chr1:151400745-151400795	U87	brain:	n/a
50	chr1:151400745-151400795	CMK	blood:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:151371234..151374091-chr1:151403253..151406283,3	K562	blood:
2	1:151382407-151385079..1:151516085-151535167	Hela-S3	cervix:
3	chr1:151389430..151391036-chr1:151431116..151432632,2	MCF-7	breast:
4	1:151309061-151322694..1:151375897-151378579	K562	blood:
5	chr1:151319407..151322212-chr1:151384935..151387557,2	K562	blood:
6	chr1:151388224..151390291-chr1:151485508..151488200,2	MCF-7	breast:
7	chr1:151344490..151346113-chr1:151376702..151378922,2	K562	blood:
8	1:151375897-151378579..1:151618750-151636526	Hela-S3	cervix:
9	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
10	chr1:151377630..151380310-chr1:151382827..151386169,3	K562	blood:
11	chr1:151380793..151382319-chr1:151736014..151737690,2	K562	blood:
12	chr1:151371427..151373843-chr1:151402656..151405068,2	MCF-7	breast:
13	1:151158061-151171193..1:151375897-151378579	K562	blood:
14	chr1:151378644..151381595-chr1:151399105..151400732,2	MCF-7	breast:
15	1:151246650-151254384..1:151375897-151378579	Hela-S3	cervix:
16	chr1:151402377..151405267-chr1:151416084..151418421,2	MCF-7	breast:
17	chr1:151373885..151375953-chr1:151382352..151386017,5	K562	blood:
18	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
19	chr1:151318482..151320695-chr1:151375632..151377570,2	MCF-7	breast:
20	chr1:151375419..151377993-chr1:151483769..151486576,3	MCF-7	breast:
21	chr1:151298919..151301179-chr1:151402872..151405310,2	MCF-7	breast:
22	chr1:151390757..151393673-chr1:151394314..151397139,2	K562	blood:
23	1:151254384-151268403..1:151402394-151411623	GM12878	blood:
24	chr1:151401923..151403617-chr1:151404854..151407788,2	MCF-7	breast:
25	chr1:151397867..151399867-chr1:151430315..151432145,2	MCF-7	breast:
26	chr1:151400148..151402604-chr1:151403204..151405612,2	MCF-7	breast:
27	1:151375897-151378579..1:151411623-151426875	Hela-S3	cervix:
28	chr1:151379379..151381233-chr1:151511239..151513051,2	MCF-7	breast:
29	chr1:151370751..151375455-chr1:151387327..151390376,6	MCF-7	breast:
30	1:151381232-151382407..1:151411623-151426875	Hela-S3	cervix:
31	1:151219411-151234038..1:151375897-151378579	Hela-S3	cervix:
32	chr1:151400556..151402238-chr1:151404299..151407025,2	K562	blood:
33	chr1:151379590..151381378-chr1:151394172..151396237,2	MCF-7	breast:
34	chr1:151406315..151409257-chr1:151430992..151432763,2	MCF-7	breast:
35	chr1:151211452..151213818-chr1:151375380..151378253,2	K562	blood:
36	chr1:151370990..151372636-chr1:151386252..151388197,2	K562	blood:
37	chr1:151378644..151381595-chr1:151399105..151400732,2	MCF-7	breast:
38	chr1:151409926..151411809-chr1:151413476..151415968,2	MCF-7	breast:
39	chr1:151387420..151389134-chr1:151433019..151434724,2	K562	blood:
40	chr1:151396850..151398414-chr1:151401158..151402735,2	MCF-7	breast:
41	chr1:151380793..151382979-chr1:151735863..151737514,2	K562	blood:
42	chr1:151371982..151373991-chr1:151404993..151406517,2	MCF-7	breast:
43	chr1:151404848..151406397-chr1:151409975..151412744,2	MCF-7	breast:
44	chr1:151318007..151320260-chr1:151384925..151386522,2	MCF-7	breast:
45	chr1:151377630..151380310-chr1:151382827..151386169,3	K562	blood:
46	chr1:151410628..151413374-chr1:151426124..151427883,2	MCF-7	breast:
47	chr1:151370915..151372636-chr1:151386697..151388263,2	K562	blood:
48	1:151333184-151350267..1:151375897-151378579	Hela-S3	cervix:
49	1:151393910-151394636..1:151516085-151535167	GM12878	blood:
50	1:151219411-151234038..1:151378579-151379560	Hela-S3	cervix:

No data

Variant related genes	Relation type
POGZ	TF binding region
RNY4P25	TF binding region
POGZ	CpG island
RNY4P25	CpG island
ENSG00000143390	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000163159	chromatin interactions
ENSG00000206635	chromatin interactions
ENSG00000143416	chromatin interactions
ENSG00000238711	chromatin interactions
ENSG00000252840	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000224645	chromatin interactions
ENSG00000265753	chromatin interactions
ENSG00000273481	chromatin interactions
ENSG00000143436	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000143393	chromatin interactions
ENSG00000143398	chromatin interactions
ENSG00000223861	chromatin interactions
ENSG00000237976	chromatin interactions
ENSG00000143442	chromatin interactions

Extended variants
information (count: 1376 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1571294	chr1:151377407-151377408	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138705914	chr1:151377408-151377409	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs35198305	chr1:151377416-151377417	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142860188	chr1:151377422-151377423	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs556553243	chr1:151377423-151377424	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs140152799	chr1:151377424-151377425	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs374364810	chr1:151377425-151377426	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs150896140	chr1:151377443-151377444	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs200143730	chr1:151377454-151377455	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs576810408	chr1:151377490-151377491	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs545762626	chr1:151377514-151377515	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs376316033	chr1:151377517-151377518	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs559754957	chr1:151377530-151377531	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs200125187	chr1:151377536-151377537	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs527918314	chr1:151377553-151377554	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs201722331	chr1:151377613-151377614	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs149655055	chr1:151377648-151377649	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs141219743	chr1:151377656-151377657	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs200460437	chr1:151377678-151377679	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs562919841	chr1:151377693-151377694	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs555935933	chr1:151377722-151377723	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs201461621	chr1:151377815-151377816	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs372063540	chr1:151377849-151377850	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs375355132	chr1:151377851-151377852	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs201333468	chr1:151377865-151377866	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs529715904	chr1:151377883-151377884	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs199639268	chr1:151377922-151377923	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs199974317	chr1:151377924-151377925	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs202098093	chr1:151377952-151377953	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs372414969	chr1:151377957-151377958	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs376234308	chr1:151377979-151377980	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs369312700	chr1:151377984-151377985	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs372889416	chr1:151378031-151378032	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs377244597	chr1:151378139-151378140	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs147609525	chr1:151378150-151378151	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs531973657	chr1:151378152-151378153	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs143139372	chr1:151378153-151378154	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs552090128	chr1:151378154-151378155	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs372572651	chr1:151378157-151378158	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs192588276	chr1:151378187-151378188	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs375852736	chr1:151378198-151378199	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs140394565	chr1:151378211-151378212	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs116755407	chr1:151378214-151378215	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs567756416	chr1:151378232-151378233	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs541561886	chr1:151378250-151378251	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs376406028	chr1:151378251-151378252	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs145068768	chr1:151378255-151378256	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs536694694	chr1:151378258-151378259	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs149003420	chr1:151378274-151378275	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs576546048	chr1:151378278-151378279	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151373000-151382800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:151373200-151384800	Strong transcription	Ovary	ovary
3	chr1:151373200-151388000	Strong transcription	Fetal Kidney	kidney
4	chr1:151373400-151382400	Strong transcription	Fetal Stomach	stomach
5	chr1:151373400-151384800	Strong transcription	Fetal Brain Female	brain
6	chr1:151373400-151385200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:151373400-151389400	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr1:151373400-151393000	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr1:151373400-151403400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr1:151373400-151403400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:151373400-151403400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:151373400-151403400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:151373400-151403400	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:151373400-151403400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:151373400-151403600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:151373400-151403600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:151373400-151403800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:151373400-151416400	Weak transcription	Stomach Mucosa	stomach
19	chr1:151373600-151377600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:151373600-151385400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:151373600-151385800	Strong transcription	Fetal Lung	lung
22	chr1:151373600-151403200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:151373600-151403400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:151373600-151403400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr1:151373600-151403400	Strong transcription	Thymus	Thymus
26	chr1:151373600-151403800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:151373600-151403800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:151373800-151377800	Strong transcription	Left Ventricle	heart
29	chr1:151373800-151379400	Strong transcription	K562	blood
30	chr1:151373800-151381400	Strong transcription	NHEK	skin
31	chr1:151373800-151381600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:151373800-151382200	Strong transcription	Spleen	Spleen
33	chr1:151373800-151382400	Strong transcription	Aorta	Aorta
34	chr1:151373800-151382600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:151373800-151385000	Strong transcription	Primary B cells from cord blood	blood
36	chr1:151373800-151385200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr1:151373800-151386200	Strong transcription	Lung	lung
38	chr1:151373800-151389600	Strong transcription	Colon Smooth Muscle	Colon
39	chr1:151373800-151401000	Strong transcription	Brain Germinal Matrix	brain
40	chr1:151373800-151403200	Strong transcription	Primary T cells from cord blood	blood
41	chr1:151373800-151403200	Strong transcription	Adipose Nuclei	Adipose
42	chr1:151373800-151403200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:151373800-151403400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:151373800-151403400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:151373800-151403400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:151373800-151403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:151373800-151403800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:151373800-151407000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:151374000-151378600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr1:151374000-151381200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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