Variant report

Variant	esv33705
Chromosome Location	chr3:134201034-134210747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:865)
CpG islands
(count:1895)
Chromatin interactive
region (count:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:865 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:134203952-134205308	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:134204366-134205256	K562	blood:	n/a	n/a
3	ATF1	chr3:134205613-134205989	K562	blood:	n/a	n/a
4	ATF1	chr3:134206191-134206511	K562	blood:	n/a	n/a
5	ATF2	chr3:134204231-134205356	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr3:134205996-134206616	GM12878	blood:	n/a	n/a
7	ATF2	chr3:134206076-134206620	GM12878	blood:	n/a	n/a
8	ATF2	chr3:134203965-134205164	GM12878	blood:	n/a	n/a
9	ATF2	chr3:134203633-134205255	GM12878	blood:	n/a	n/a
10	ATF3	chr3:134204659-134205083	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr3:134204687-134204957	K562	blood:	n/a	n/a
12	ATF3	chr3:134204609-134205093	A549	lung:	n/a	n/a
13	ATF3	chr3:134204687-134205022	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr3:134204357-134205204	A549	lung:	n/a	n/a
15	ATF3	chr3:134204667-134204999	HepG2	liver:	n/a	n/a
16	BACH1	chr3:134204480-134205505	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr3:134204744-134205144	GM12878	blood:	n/a	n/a
18	BCL11A	chr3:134204789-134205197	GM12878	blood:	n/a	n/a
19	BCL11A	chr3:134204698-134205075	GM12878	blood:	n/a	chr3:134204718-134204727
20	BCL3	chr3:134204251-134205028	A549	lung:	n/a	chr3:134204718-134204727
21	BCL3	chr3:134204290-134205017	A549	lung:	n/a	chr3:134204718-134204727
22	BCLAF1	chr3:134206216-134206793	GM12878	blood:	n/a	n/a
23	BCLAF1	chr3:134204066-134205905	GM12878	blood:	n/a	chr3:134204718-134204727
24	BCLAF1	chr3:134204172-134205387	GM12878	blood:	n/a	chr3:134204718-134204727
25	BHLHE40	chr3:134204730-134205043	HepG2	liver:	n/a	n/a
26	BHLHE40	chr3:134203995-134204279	A549	lung:	n/a	n/a
27	BHLHE40	chr3:134204492-134205146	A549	lung:	n/a	chr3:134204554-134204570
28	BHLHE40	chr3:134203785-134205556	HepG2	liver:	n/a	chr3:134204554-134204570
29	BHLHE40	chr3:134203623-134205549	GM12878	blood:	n/a	chr3:134204554-134204570
30	BHLHE40	chr3:134203593-134205735	K562	blood:	n/a	chr3:134204554-134204570
31	BRCA1	chr3:134204119-134205210	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr3:134205301-134205390	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr3:134204167-134205037	GM12878	blood:	n/a	n/a
34	BRCA1	chr3:134204615-134204966	HepG2	liver:	n/a	n/a
35	BRCA1	chr3:134205630-134205963	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr3:134204746-134205071	H1-hESC	embryonic stem cell:	n/a	n/a
37	CBX3	chr3:134204638-134205354	K562	blood:	n/a	n/a
38	CCNT2	chr3:134204418-134205696	K562	blood:	n/a	chr3:134204841-134204850
39	CEBPB	chr3:134204755-134205484	A549	lung:	n/a	n/a
40	CEBPB	chr3:134201414-134201893	MCF-7	breast:	n/a	chr3:134201653-134201664
41	CEBPB	chr3:134205072-134205326	HepG2	liver:	n/a	n/a
42	CEBPB	chr3:134201463-134201857	HepG2	liver:	n/a	chr3:134201653-134201664
43	CEBPB	chr3:134201443-134201853	ECC-1	luminal epithelium:	n/a	chr3:134201653-134201664
44	CEBPB	chr3:134201552-134201702	HepG2	liver:	n/a	chr3:134201653-134201664
45	CEBPB	chr3:134204383-134205446	MCF-7	breast:	n/a	n/a
46	CEBPB	chr3:134201503-134201832	H1-hESC	embryonic stem cell:	n/a	chr3:134201653-134201664
47	CEBPB	chr3:134204762-134205366	K562	blood:	n/a	n/a
48	CEBPB	chr3:134201509-134201785	K562	blood:	n/a	chr3:134201653-134201664
49	CEBPB	chr3:134201461-134201865	IMR90	lung:	n/a	chr3:134201653-134201664
50	CEBPB	chr3:134204255-134205211	GM12878	blood:	n/a	n/a

(count:1895 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:134205014-134205064	HIPEpiC	eye:	n/a
2	chr3:134201659-134201709	HRPEpiC	eye:	n/a
3	chr3:134207444-134207494	GM19239	blood:	n/a
4	chr3:134204547-134204597	HPAEpiC	pulmonary alveolar:	n/a
5	chr3:134205014-134205064	HIPEpiC	eye:	n/a
6	chr3:134201659-134201709	HRPEpiC	eye:	n/a
7	chr3:134207444-134207494	GM19239	blood:	n/a
8	chr3:134204547-134204597	HPAEpiC	pulmonary alveolar:	n/a
9	chr3:134205173-134205223	BJ	skin:	n/a
10	chr3:134205717-134205767	HNPCEpiC	eye:	n/a
11	chr3:134205020-134205070	HNPCEpiC	eye:	n/a
12	chr3:134204910-134204960	U87	brain:	n/a
13	chr3:134205020-134205070	BE2_C	brain:	n/a
14	chr3:134204521-134204571	MCF-7	breast:	n/a
15	chr3:134204910-134204960	GM06990	blood:	n/a
16	chr3:134204912-134204962	GM12892	blood:	n/a
17	chr3:134205175-134205225	NB4	blood:	n/a
18	chr3:134204398-134204448	AG09319	gingival:	n/a
19	chr3:134204521-134204571	HUVEC	blood vessel:	n/a
20	chr3:134204910-134204960	GM12891	blood:	n/a
21	chr3:134204268-134204318	AG04450	lung:	fetal
22	chr3:134203672-134203722	Hepatocyte	liver:	n/a
23	chr3:134204538-134204588	H1-hESC	embryonic stem cell:	embryo
24	chr3:134204409-134204459	NHBE	bronchial:	n/a
25	chr3:134205173-134205223	GM12892	blood:	n/a
26	chr3:134203672-134203722	PrEC	prostate:	n/a
27	chr3:134203789-134203839	MCF-7	breast:	n/a
28	chr3:134204521-134204571	U87	brain:	n/a
29	chr3:134205022-134205072	AG10803	skin:	n/a
30	chr3:134205022-134205072	CMK	blood:	n/a
31	chr3:134204727-134204777	K562	blood:	n/a
32	chr3:134205173-134205223	HRPEpiC	eye:	n/a
33	chr3:134204778-134204828	HepG2	liver:	n/a
34	chr3:134204850-134204900	NB4	blood:	n/a
35	chr3:134204114-134204164	AoSMC	blood vessel:	n/a
36	chr3:134204547-134204597	HL-60	blood:	n/a
37	chr3:134205175-134205225	ECC-1	luminal epithelium:	n/a
38	chr3:134204727-134204777	IMR90	lung:	fetal
39	chr3:134204114-134204164	GM06990	blood:	n/a
40	chr3:134205022-134205072	HEK293	kidney:	embryo
41	chr3:134204912-134204962	ProgFib	skin:	n/a
42	chr3:134204398-134204448	PFSK-1	brain:	n/a
43	chr3:134203408-134203458	HAEpiC	amniotic membrane:	n/a
44	chr3:134204268-134204318	HepG2	liver:	n/a
45	chr3:134205173-134205223	H1-hESC	embryonic stem cell:	embryo
46	chr3:134204850-134204900	HMEC	breast:	n/a
47	chr3:134204727-134204777	MCF10A-Er-Src	breast:	n/a
48	chr3:134207444-134207494	Caco-2	colon:	n/a
49	chr3:134204398-134204448	HIPEpiC	eye:	n/a
50	chr3:134204547-134204597	NHDF-neo	bronchial:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134027625..134034860-chr3:134199305..134206618,11	MCF-7	breast:
2	chr3:134074631..134077411-chr3:134204905..134207486,2	MCF-7	breast:
3	chr3:134210513..134212228-chr3:134265395..134267023,2	K562	blood:
4	chr3:134203423..134206037-chr3:135913664..135915183,2	MCF-7	breast:
5	chr3:134030532..134033438-chr3:134208777..134211610,2	MCF-7	breast:
6	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:
7	chr3:134203528..134205442-chr3:134316408..134318082,2	MCF-7	breast:
8	chr3:134209724..134212425-chr3:134275808..134277795,2	MCF-7	breast:
9	chr3:134072948..134076764-chr3:134201781..134206077,4	MCF-7	breast:
10	chr3:134205002..134205658-chr7:43965784..43966674,2	Hela-S3	cervix:
11	chr3:133968926..133970560-chr3:134210057..134211714,2	MCF-7	breast:
12	chr19:18548281..18548923-chr3:134204312..134205255,2	HCT-116	colon:
13	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
14	chr10:105726414..105727135-chr3:134204312..134204975,2	Hela-S3	cervix:
15	chr3:134027446..134029898-chr3:134199577..134201556,2	MCF-7	breast:
16	chr11:62609135..62609698-chr3:134204927..134205481,2	Hela-S3	cervix:
17	chr3:134089711..134094738-chr3:134202793..134208651,12	MCF-7	breast:
18	chr3:134107138..134109497-chr3:134202538..134204336,2	MCF-7	breast:
19	chr3:134201308..134204290-chr3:134208697..134211507,3	K562	blood:
20	chr3:134081380..134086335-chr3:134201546..134208103,7	MCF-7	breast:
21	chr10:7829632..7830563-chr3:134204650..134205337,2	NB4	blood:
22	chr1:17221949..17222684-chr3:134204971..134205743,2	Hela-S3	cervix:
23	chr12:125398709..125399519-chr3:134204388..134205282,2	Hela-S3	cervix:
24	chr3:134068339..134071562-chr3:134203031..134205941,6	MCF-7	breast:
25	chr3:133524847..133526590-chr3:134204244..134205959,2	MCF-7	breast:
26	chr12:52446467..52447285-chr3:134204866..134205415,2	Hela-S3	cervix:
27	chr3:134202973..134206130-chr3:134210645..134215356,7	MCF-7	breast:
28	chr3:134204783..134205351-chr7:104653453..104653971,2	Hela-S3	cervix:
29	chr3:134205101..134206661-chr3:134208363..134209894,2	MCF-7	breast:
30	chr3:134204683..134205371-chr7:112090424..112091017,2	Hela-S3	cervix:
31	chr3:134066447..134072766-chr3:134202428..134206376,9	MCF-7	breast:
32	chr3:134194842..134202002-chr3:134202428..134206148,8	K562	blood:
33	chr3:134204301..134205283-chr4:15682678..15683336,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHB1-2	chr3:134204887-134205044	NONHSAT092243

No data

Variant related genes	Relation type
CEP63	TF binding region
ANAPC13	TF binding region
CEP63	CpG island
ANAPC13	CpG island
ENSG00000065613	chromatin interactions
ENSG00000182923	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000078967	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000154928	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000114019	chromatin interactions
ENSG00000118564	chromatin interactions
ENSG00000006652	chromatin interactions
ENSG00000214289	chromatin interactions
ENSG00000151657	chromatin interactions
ENSG00000163785	chromatin interactions
ENSG00000144867	chromatin interactions
ENSG00000129055	chromatin interactions
ENSG00000207005	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000165629	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000260633	chromatin interactions
ENSG00000240006	chromatin interactions
ENSG00000237765	chromatin interactions
ENSG00000106608	chromatin interactions
ENSG00000174579	chromatin interactions

Extended variants
information (count: 400 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187119858	chr3:134201047-134201048	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs538743099	chr3:134201127-134201128	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs114426005	chr3:134201137-134201138	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs143964389	chr3:134201180-134201181	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs35161668	chr3:134201217-134201218	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs534350001	chr3:134201236-134201237	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs554546355	chr3:134201238-134201239	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs148645707	chr3:134201272-134201273	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs537309874	chr3:134201346-134201347	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs116653322	chr3:134201348-134201349	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs578252137	chr3:134201374-134201375	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs139412628	chr3:134201378-134201379	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs191637081	chr3:134201383-134201384	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs545905885	chr3:134201413-134201414	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs375130897	chr3:134201426-134201427	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs559453286	chr3:134201443-134201444	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs142109092	chr3:134201480-134201481	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs541907964	chr3:134201509-134201510	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs542388810	chr3:134201560-134201561	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs373445384	chr3:134201608-134201609	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs374620352	chr3:134201614-134201615	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs200431775	chr3:134201651-134201652	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs147569914	chr3:134201688-134201689	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs141828446	chr3:134201689-134201690	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs199588956	chr3:134201690-134201691	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs377214222	chr3:134201702-134201703	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs202086152	chr3:134201708-134201709	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs200574595	chr3:134201713-134201714	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs370027900	chr3:134201721-134201722	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs199911945	chr3:134201732-134201733	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs147118523	chr3:134201743-134201744	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs373896965	chr3:134201785-134201786	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs140871696	chr3:134201804-134201805	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs564693141	chr3:134201869-134201870	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs113495450	chr3:134201896-134201897	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs547199958	chr3:134201967-134201968	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs369070995	chr3:134201969-134201970	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs376209006	chr3:134201991-134201992	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs531280678	chr3:134202032-134202033	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs534706366	chr3:134202033-134202034	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs558388673	chr3:134202037-134202038	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs568001454	chr3:134202051-134202052	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs112519826	chr3:134202053-134202054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs116446322	chr3:134202066-134202067	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs144934903	chr3:134202071-134202072	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs79470916	chr3:134202098-134202099	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs539275399	chr3:134202153-134202154	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs184177574	chr3:134202174-134202175	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs147946985	chr3:134202207-134202208	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs542269705	chr3:134202278-134202279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134183800-134203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:134184000-134203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:134190800-134203600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:134193000-134202800	Weak transcription	Stomach Mucosa	stomach
5	chr3:134193000-134203400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:134193600-134201400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:134193600-134202200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:134193800-134201600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:134193800-134202400	Strong transcription	Fetal Intestine Large	intestine
10	chr3:134194200-134201600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:134194400-134201600	Strong transcription	Primary B cells from cord blood	blood
12	chr3:134194400-134201600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr3:134194400-134201800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:134194400-134202000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:134194400-134202200	Strong transcription	Primary T cells from cord blood	blood
16	chr3:134194600-134201400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:134194600-134201600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:134194600-134202000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr3:134194600-134202200	Strong transcription	Fetal Thymus	thymus
20	chr3:134194600-134202800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr3:134194800-134201400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr3:134194800-134201600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:134194800-134201600	Strong transcription	Fetal Brain Female	brain
24	chr3:134194800-134201600	Strong transcription	Dnd41	blood
25	chr3:134194800-134201800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:134194800-134202000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr3:134195000-134201400	Strong transcription	GM12878-XiMat	blood
28	chr3:134195000-134201800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:134195000-134201800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:134195000-134202000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr3:134195000-134202200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:134195000-134202200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:134195000-134202400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:134195000-134202400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr3:134195200-134201800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr3:134195200-134201800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:134195200-134201800	Strong transcription	Brain Anterior Caudate	brain
38	chr3:134195200-134202600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:134195400-134201800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:134195600-134201600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:134195600-134202200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:134195800-134202000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr3:134196000-134201600	Strong transcription	Placenta	Placenta
44	chr3:134196000-134202000	Strong transcription	Fetal Muscle Leg	muscle
45	chr3:134196400-134201200	Strong transcription	Fetal Lung	lung
46	chr3:134196600-134202200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:134196600-134202400	Strong transcription	K562	blood
48	chr3:134196800-134201400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:134196800-134201600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:134197000-134201200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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