Variant report

Variant	nsv873216
Chromosome Location	chr1:224075483-224230307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:224225266-224225295	K562	blood:	n/a	n/a
2	ARID3A	chr1:224124412-224124623	K562	blood:	n/a	n/a
3	ARID3A	chr1:224119208-224119671	K562	blood:	n/a	n/a
4	ARID3A	chr1:224203577-224204130	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:224200105-224202376	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:224180236-224180463	HepG2	liver:	n/a	n/a
7	ATF1	chr1:224180104-224180596	K562	blood:	n/a	n/a
8	ATF1	chr1:224203501-224203872	K562	blood:	n/a	n/a
9	ATF1	chr1:224119207-224119478	K562	blood:	n/a	n/a
10	ATF1	chr1:224201408-224202650	K562	blood:	n/a	n/a
11	ATF1	chr1:224200184-224201129	K562	blood:	n/a	n/a
12	ATF2	chr1:224180114-224180475	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
13	ATF2	chr1:224180127-224180483	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
14	ATF2	chr1:224180121-224180542	GM12878	blood:	n/a	chr1:224180344-224180355
15	ATF2	chr1:224180111-224180616	GM12878	blood:	n/a	chr1:224180344-224180355
16	ATF3	chr1:224180214-224180405	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
17	ATF3	chr1:224180142-224180506	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
18	ATF3	chr1:224180154-224180502	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
19	ATF3	chr1:224180121-224180536	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
20	ATF3	chr1:224180177-224180522	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
21	ATF3	chr1:224180187-224180478	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
22	ATF3	chr1:224180172-224180501	HepG2	liver:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
23	ATF3	chr1:224180201-224180512	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
24	BACH1	chr1:224180388-224180426	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr1:224108598-224108877	GM12878	blood:	n/a	chr1:224108835-224108844
26	BATF	chr1:224182397-224182686	GM12878	blood:	n/a	n/a
27	BATF	chr1:224191763-224192234	GM12878	blood:	n/a	n/a
28	BATF	chr1:224095793-224096047	GM12878	blood:	n/a	n/a
29	BATF	chr1:224092998-224093284	GM12878	blood:	n/a	n/a
30	BATF	chr1:224104058-224104261	GM12878	blood:	n/a	n/a
31	BATF	chr1:224203062-224203923	GM12878	blood:	n/a	n/a
32	BATF	chr1:224100132-224100691	GM12878	blood:	n/a	chr1:224100431-224100442
33	BATF	chr1:224179785-224180831	GM12878	blood:	n/a	n/a
34	BATF	chr1:224144651-224145050	GM12878	blood:	n/a	n/a
35	BATF	chr1:224100112-224100738	GM12878	blood:	n/a	chr1:224100431-224100442
36	BATF	chr1:224191763-224192172	GM12878	blood:	n/a	n/a
37	BATF	chr1:224220613-224220910	GM12878	blood:	n/a	chr1:224220777-224220788
38	BATF	chr1:224201232-224201937	GM12878	blood:	n/a	n/a
39	BATF	chr1:224223656-224223852	GM12878	blood:	n/a	chr1:224223690-224223700
40	BATF	chr1:224202697-224203908	GM12878	blood:	n/a	n/a
41	BATF	chr1:224199329-224201189	GM12878	blood:	n/a	n/a
42	BATF	chr1:224200052-224202050	GM12878	blood:	n/a	n/a
43	BATF	chr1:224216980-224217656	GM12878	blood:	n/a	n/a
44	BATF	chr1:224203989-224204333	GM12878	blood:	n/a	n/a
45	BATF	chr1:224182430-224182667	GM12878	blood:	n/a	n/a
46	BATF	chr1:224202153-224202695	GM12878	blood:	n/a	n/a
47	BATF	chr1:224202255-224203035	GM12878	blood:	n/a	n/a
48	BATF	chr1:224108555-224108855	GM12878	blood:	n/a	chr1:224108835-224108844
49	BATF	chr1:224216986-224217637	GM12878	blood:	n/a	n/a
50	BATF	chr1:224199351-224200029	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224180444-224180494	SKMC	muscle:	n/a
2	chr1:224180444-224180494	SKMC	muscle:	n/a
3	chr1:224180516-224180566	GM12878	blood:	n/a
4	chr1:224180516-224180566	NH-A	brain:	n/a
5	chr1:224177126-224177176	BE2_C	brain:	n/a
6	chr1:224180444-224180494	GM12878	blood:	n/a
7	chr1:224133090-224133140	ovcar-3	ovarian:	n/a
8	chr1:224224049-224224099	PANC-1	pancreas:	n/a
9	chr1:224195005-224195055	NH-A	brain:	n/a
10	chr1:224180444-224180494	HCM	heart:	n/a
11	chr1:224180444-224180494	PrEC	prostate:	n/a
12	chr1:224180302-224180352	BJ	skin:	n/a
13	chr1:224179665-224179715	HEK293	kidney:	embryo
14	chr1:224180516-224180566	AG04450	lung:	fetal
15	chr1:224179665-224179715	SAEC	small airway:	n/a
16	chr1:224222745-224222795	H1-hESC	embryonic stem cell:	embryo
17	chr1:224177126-224177176	HIPEpiC	eye:	n/a
18	chr1:224075899-224075949	SKMC	muscle:	n/a
19	chr1:224222745-224222795	ovcar-3	ovarian:	n/a
20	chr1:224180288-224180338	PANC-1	pancreas:	n/a
21	chr1:224224049-224224099	HMEC	breast:	n/a
22	chr1:224224049-224224099	GM12891	blood:	n/a
23	chr1:224133090-224133140	Caco-2	colon:	n/a
24	chr1:224222745-224222795	GM12878	blood:	n/a
25	chr1:224075899-224075949	T-47D	breast:	n/a
26	chr1:224180288-224180338	HCF	heart:	n/a
27	chr1:224224049-224224099	RPTEC	kidney:	n/a
28	chr1:224180444-224180494	HUVEC	blood vessel:	n/a
29	chr1:224180444-224180494	SK-N-SH	brain:	n/a
30	chr1:224133090-224133140	AG04449	skin:	fetal
31	chr1:224222745-224222795	LNCaP	prostate:	n/a
32	chr1:224177126-224177176	HRPEpiC	eye:	n/a
33	chr1:224195005-224195055	AG04449	skin:	fetal
34	chr1:224195005-224195055	HMEC	breast:	n/a
35	chr1:224136349-224136399	AG09309	skin:	n/a
36	chr1:224180516-224180566	HRPEpiC	eye:	n/a
37	chr1:224224049-224224099	AG09309	skin:	n/a
38	chr1:224180444-224180494	HIPEpiC	eye:	n/a
39	chr1:224224049-224224099	HUVEC	blood vessel:	n/a
40	chr1:224177126-224177176	AG04450	lung:	fetal
41	chr1:224222745-224222795	GM06990	blood:	n/a
42	chr1:224222745-224222795	BE2_C	brain:	n/a
43	chr1:224195005-224195055	AG04450	lung:	fetal
44	chr1:224177126-224177176	HCPEpiC	choroid plexus:	n/a
45	chr1:224136349-224136399	AG04450	lung:	fetal
46	chr1:224180444-224180494	AoSMC	blood vessel:	n/a
47	chr1:224180302-224180352	MCF10A-Er-Src	breast:	n/a
48	chr1:224179665-224179715	SK-N-SH	brain:	n/a
49	chr1:224222745-224222795	HRE	kidney:	n/a
50	chr1:224136349-224136399	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:223885675..223886337-chr1:224192381..224192903,2	K562	blood:
2	chr1:224061505..224063787-chr1:224074137..224075680,2	K562	blood:
3	chr1:223900030..223900536-chr1:224108678..224109196,2	K562	blood:
4	chr1:224030638..224033175-chr1:224122761..224125405,2	K562	blood:
5	chr1:224178905..224181889-chr1:224301318..224303879,2	MCF-7	breast:
6	chr1:223887763..223889342-chr1:224178879..224180474,2	K562	blood:
7	chr1:224064879..224067819-chr1:224073518..224075866,3	K562	blood:
8	chr1:224227960..224229471-chr1:224345929..224348019,2	K562	blood:
9	chr1:224178733..224180652-chr1:224310129..224312087,2	K562	blood:
10	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53BP2-1	chr1:224159276-224159470	XLOC_001223
2	lnc-FBXO28-1	chr1:224183597-224183703	NONHSAT009761
3	lnc-FBXO28-1	chr1:224196429-224198309	ENSG00000185495.6
4	lnc-PARP1-4	chr1:224096672-224097019	expRegAs_chr1_21127_-
5	lnc-FBXO28-1	chr1:224191211-224191356	NONHSAT009764
6	lnc-TP53BP2-6	chr1:224174277-224174342	NONHSAT009756
7	lnc-TP53BP2-4	chr1:224149779-224150042	NONHSAT009754
8	lnc-FBXO28-4	chr1:224216529-224216829	NONHSAT009766
9	lnc-FBXO28-4	chr1:224216529-224216829	NONHSAT009767
10	lnc-FBXO28-1	chr1:224190017-224190324	NONHSAT009760
11	lnc-FBXO28-4	chr1:224222257-224222380	NONHSAT009767
12	lnc-TP53BP2-6	chr1:224170893-224170987	NONHSAT009756
13	lnc-FBXO28-1	chr1:224191222-224191356	NONHSAT009761
14	lnc-TP53BP2-6	chr1:224172084-224172141	NONHSAT009757
15	lnc-FBXO28-1	chr1:224190224-224190324	NONHSAT009761
16	lnc-PARP1-3	chr1:224098433-224099085	expRegAs_chr1_21128_-
17	lnc-FBXO28-1	chr1:224197022-224197245	NONHSAT009764
18	lnc-TP53BP2-4	chr1:224148701-224148934	NONHSAT009753
19	lnc-FBXO28-1	chr1:224190224-224190324	ENSG00000185495.6
20	lnc-FBXO28-1	chr1:224197022-224197405	ENSG00000185495.6
21	lnc-TP53BP2-6	chr1:224170584-224170818	NONHSAT009757
22	lnc-FBXO28-1	chr1:224189609-224191356	NONHSAT009763
23	lnc-FBXO28-1	chr1:224191222-224191356	ENSG00000185495.6
24	lnc-FBXO28-4	chr1:224219818-224220034	NONHSAT009766
25	lnc-FBXO28-1	chr1:224180714-224180749	NONHSAT009760
26	lnc-TP53BP2-3	chr1:224139722-224139941	NONHSAT009752
27	lnc-TP53BP2-6	chr1:224175747-224175856	NONHSAT009756
28	lnc-TP53BP2-4	chr1:224150312-224150411	NONHSAT009754
29	lnc-TP53BP2-6	chr1:224170456-224170544	NONHSAT009756
30	lnc-FBXO28-1	chr1:224196429-224198314	ENSG00000263182.1
31	lnc-FBXO28-4	chr1:224217383-224217533	NONHSAT009768
32	lnc-TP53BP2-7	chr1:224222656-224222758	NONHSAT009769
33	lnc-TP53BP2-4	chr1:224149779-224150142	NONHSAT009753
34	lnc-FBXO28-4	chr1:224216253-224216275	NONHSAT009767
35	lnc-TP53BP2-7	chr1:224218406-224218498	NONHSAT009769
36	lnc-FBXO28-1	chr1:224194996-224195119	NONHSAT009763
37	lnc-FBXO28-1	chr1:224183659-224183796	ENSG00000185495.6
38	lnc-FBXO28-4	chr1:224216253-224216275	NONHSAT009766
39	lnc-TP53BP2-6	chr1:224170898-224170987	NONHSAT009757
40	lnc-TP53BP2-1	chr1:224151308-224152241	XLOC_001223
41	lnc-FBXO28-1	chr1:224191295-224191356	NONHSAT009760
42	lnc-FBXO28-1	chr1:224197022-224197818	NONHSAT009763
43	lnc-TP53BP2-7	chr1:224221175-224221224	NONHSAT009769
44	lnc-FBXO28-1	chr1:224197022-224197069	NONHSAT009760
45	lnc-FBXO28-4	chr1:224216293-224216829	NONHSAT009768

Variant related genes	Relation type
ENSG00000232372	TF binding region
ENSG00000243000	TF binding region
ENSG00000185495	TF binding region
ENSG00000229930	TF binding region
ENSG00000272645	TF binding region
ENSG00000263182	TF binding region
ENSG00000269358	TF binding region
CICP5	TF binding region
RNU6-1319P	TF binding region
ENSG00000232372	CpG island
ENSG00000243000	CpG island
ENSG00000185495	CpG island
ENSG00000229930	CpG island
ENSG00000272645	CpG island
ENSG00000263182	CpG island
ENSG00000269358	CpG island
CICP5	CpG island
RNU6-1319P	CpG island
ENSG00000162909	chromatin interactions
ENSG00000143756	chromatin interactions
WNT5B	miRNA target sites
AHCYL2	miRNA target sites

Extended variants
information (count: 3995 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3995 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10915950	chr1:224075483-224075484	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12031127	chr1:224075502-224075503	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12032570	chr1:224075538-224075539	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12033405	chr1:224075545-224075546	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552705466	chr1:224075561-224075562	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs57670584	chr1:224075627-224075628	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559055591	chr1:224075641-224075642	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77726480	chr1:224075691-224075692	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs117356923	chr1:224075727-224075728	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553613991	chr1:224075745-224075746	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572029377	chr1:224075746-224075747	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538068896	chr1:224075761-224075762	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186950127	chr1:224075777-224075778	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554451093	chr1:224075784-224075785	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576224017	chr1:224075793-224075794	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs543106537	chr1:224075796-224075797	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs34532395	chr1:224075810-224075811	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs138886192	chr1:224075823-224075824	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs149338717	chr1:224075834-224075835	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537512893	chr1:224075838-224075839	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112284606	chr1:224075873-224075874	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs116249831	chr1:224075882-224075883	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191463275	chr1:224075884-224075885	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs79801712	chr1:224075885-224075886	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570147587	chr1:224075890-224075891	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531136923	chr1:224075908-224075909	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78850397	chr1:224075934-224075935	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs367741098	chr1:224075969-224075970	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184121173	chr1:224075985-224075986	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs188342999	chr1:224076042-224076043	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs539682863	chr1:224076052-224076053	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12033399	chr1:224076114-224076115	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192577398	chr1:224076209-224076210	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527299733	chr1:224076240-224076241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs12127515	chr1:224076265-224076266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs185415558	chr1:224076312-224076313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554892042	chr1:224076313-224076314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs576118356	chr1:224076322-224076323	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543620906	chr1:224076352-224076353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558659026	chr1:224076353-224076354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs188846361	chr1:224076358-224076359	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541163570	chr1:224076482-224076483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113936138	chr1:224076555-224076556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574421578	chr1:224076611-224076612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542112175	chr1:224076649-224076650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12032205	chr1:224076686-224076687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530976139	chr1:224076698-224076699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12033586	chr1:224076709-224076710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3856160	chr1:224076732-224076733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3856159	chr1:224076743-224076744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	17060936	CNVD
Ewing''s sarcoma	19144156	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:850 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224072200-224076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:224072400-224076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:224073000-224077400	Enhancers	Liver	Liver
5	chr1:224073600-224076200	Enhancers	Psoas Muscle	Psoas
6	chr1:224074200-224076200	Enhancers	Fetal Muscle Leg	muscle
7	chr1:224074400-224075600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:224074400-224076200	Enhancers	Right Atrium	heart
9	chr1:224074400-224079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:224074600-224075800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:224074600-224076000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:224074800-224075600	Enhancers	Left Ventricle	heart
13	chr1:224074800-224075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:224075000-224075600	Enhancers	Fetal Heart	heart
15	chr1:224075000-224075600	Enhancers	HSMM	muscle
16	chr1:224075000-224075600	Enhancers	NHDF-Ad	bronchial
17	chr1:224075000-224075600	Enhancers	Osteobl	bone
18	chr1:224075000-224075800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:224075000-224075800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:224075200-224075600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:224075200-224075600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:224075200-224075600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:224075200-224075800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:224075200-224076200	Enhancers	Fetal Stomach	stomach
25	chr1:224075400-224075800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:224075400-224075800	Flanking Active TSS	NH-A	brain
27	chr1:224075400-224075800	Flanking Active TSS	NHLF	lung
28	chr1:224075400-224076000	Active TSS	Stomach Smooth Muscle	stomach
29	chr1:224075400-224076000	Active TSS	HSMMtube	muscle
30	chr1:224075400-224076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:224075400-224076400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:224075400-224076400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:224075400-224076400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:224075400-224076400	Flanking Active TSS	A549	lung
35	chr1:224075400-224076400	Flanking Active TSS	Hela-S3	cervix
36	chr1:224075400-224076600	Enhancers	NHEK	skin
37	chr1:224075400-224076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:224075600-224075800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:224075600-224075800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:224075600-224075800	Active TSS	Fetal Kidney	kidney
41	chr1:224075600-224076000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr1:224075600-224076000	Active TSS	Left Ventricle	heart
43	chr1:224075600-224076000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:224075600-224076000	Active TSS	HSMM	muscle
45	chr1:224075600-224076000	Active TSS	NHDF-Ad	bronchial
46	chr1:224075600-224076200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:224075600-224076200	Flanking Active TSS	Fetal Heart	heart
48	chr1:224075600-224076400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:224075600-224076400	Flanking Active TSS	Osteobl	bone
50	chr1:224075800-224076000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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