Variant report

Variant	rs3735137
Chromosome Location	chr7:39991447-39991448
allele	A/G
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	SMC3	chr7:39991066-39991672	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr7:39991305-39991734	Hela-S3	cervix:	n/a	n/a
3	GABPA	chr7:39991286-39991664	K562	blood:	n/a	n/a
4	RUNX3	chr7:39990899-39991570	GM12878	blood:	n/a	n/a
5	CCNT2	chr7:39988676-39991582	K562	blood:	n/a	chr7:39989792-39989801 chr7:39989902-39989911
6	TAF1	chr7:39990922-39991579	ECC-1	luminal epithelium:	n/a	n/a
7	SMARCB1	chr7:39988697-39991718	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:39991360-39991512	ProgFib	skin:	n/a	n/a
9	POLR2A	chr7:39990955-39991657	GM12891	blood:	n/a	n/a
10	SIN3AK20	chr7:39988698-39991685	PANC-1	pancreas:	n/a	n/a
11	CTCF	chr7:39991057-39991496	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:39988029-39991666	GM18951	blood:	n/a	n/a
13	CTCF	chr7:39991047-39991468	K562	blood:	n/a	n/a
14	TBP	chr7:39991245-39991470	HepG2	liver:	n/a	n/a
15	CTCF	chr7:39990646-39992317	A549	lung:	n/a	chr7:39992206-39992213
16	POLR2A	chr7:39991241-39991612	GM12892	blood:	n/a	n/a
17	MXI1	chr7:39990942-39991887	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr7:39987755-39991690	Hela-S3	cervix:	n/a	n/a
19	TCF12	chr7:39991246-39991514	GM12878	blood:	n/a	n/a
20	BCLAF1	chr7:39991025-39991531	GM12878	blood:	n/a	n/a
21	MAX	chr7:39990709-39991635	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:39990807-39991686	Hela-S3	cervix:	n/a	n/a
23	MYC	chr7:39988771-39991570	MCF-7	breast:	n/a	chr7:39989183-39989193 chr7:39989411-39989421
24	YY1	chr7:39991067-39991458	K562	blood:	n/a	n/a
25	MAX	chr7:39991130-39991588	K562	blood:	n/a	n/a
26	POLR2A	chr7:39988688-39991667	A549	lung:	n/a	n/a
27	CTCF	chr7:39991128-39991500	MCF-7	breast:	n/a	n/a
28	MAX	chr7:39990435-39991588	A549	lung:	n/a	n/a
29	POLR2A	chr7:39990951-39991833	GM12878	blood:	n/a	n/a
30	YY1	chr7:39990988-39991528	GM12878	blood:	n/a	n/a
31	BCLAF1	chr7:39990833-39991549	GM12878	blood:	n/a	n/a
32	CTCF	chr7:39991117-39991455	GM19238	blood:	n/a	n/a
33	E2F6	chr7:39988606-39991449	K562	blood:	n/a	chr7:39989418-39989427 chr7:39989464-39989474 chr7:39989896-39989905 chr7:39989458-39989468 chr7:39989461-39989471
34	POLR2A	chr7:39990904-39991676	GM18505	blood:	n/a	n/a
35	SIN3AK20	chr7:39988573-39991815	SK-N-SH	brain:	n/a	n/a
36	HEY1	chr7:39991305-39991517	HepG2	liver:	n/a	n/a
37	TAF1	chr7:39988668-39991574	HepG2	liver:	n/a	n/a
38	CHD1	chr7:39990898-39991845	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMC3	chr7:39987729-39992298	SK-N-SH	brain:	n/a	chr7:39989125-39989135
40	POLR2A	chr7:39990966-39993370	MCF10A-Er-Src	breast:	n/a	n/a
41	TAF1	chr7:39991039-39991521	HepG2	liver:	n/a	n/a
42	ZNF384	chr7:39991137-39991459	K562	blood:	n/a	n/a
43	YY1	chr7:39990917-39991503	GM12892	blood:	n/a	n/a
44	BRCA1	chr7:39991212-39992274	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr7:39988042-39992281	IMR90	lung:	n/a	n/a
46	POLR2A	chr7:39988519-39991740	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:39988660-39991645	ECC-1	luminal epithelium:	n/a	n/a
48	ZNF143	chr7:39990976-39991580	GM12878	blood:	n/a	n/a
49	RCOR1	chr7:39991370-39991548	HepG2	liver:	n/a	n/a
50	CTCF	chr7:39990847-39991587	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39989010..39992398-chr7:40024722..40029040,5	MCF-7	breast:
2	chr7:5569837..5570419-chr7:39990754..39991673,2	Hela-S3	cervix:
3	chr7:39985235..39991458-chr7:40172332..40176244,8	K562	blood:

Variant related genes	Relation type
ENSG00000259826	TF binding region
ENSG00000175600	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000168303	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17496712	1.00[MEX][hapmap]
rs3801237	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3335126	chr7:39989577-39991875	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39987800-39992800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:39987800-39993200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:39987800-39993400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:39988000-39991800	Active TSS	Gastric	stomach
5	chr7:39988000-39991800	Active TSS	Left Ventricle	heart
6	chr7:39988000-39991800	Active TSS	Pancreas	Pancrea
7	chr7:39988000-39992000	Active TSS	Stomach Mucosa	stomach
8	chr7:39988000-39992200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:39988000-39992400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:39988000-39992800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:39988000-39993000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:39988000-39993200	Active TSS	HSMM	muscle
13	chr7:39988000-39993400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:39988000-39993400	Active TSS	Osteobl	bone
15	chr7:39988000-39993600	Active TSS	Colonic Mucosa	Colon
16	chr7:39988000-39993800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:39988000-39993800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:39988000-39994000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:39988200-39991800	Active TSS	Lung	lung
20	chr7:39988200-39992200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:39988200-39992800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:39988200-39993200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:39988200-39993200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:39988200-39993200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:39988200-39993200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr7:39988200-39993200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:39988200-39993200	Active TSS	Colon Smooth Muscle	Colon
28	chr7:39988200-39993200	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr7:39988200-39993200	Active TSS	A549	lung
30	chr7:39988200-39993200	Active TSS	K562	blood
31	chr7:39988200-39993200	Active TSS	NH-A	brain
32	chr7:39988200-39993200	Active TSS	NHDF-Ad	bronchial
33	chr7:39988200-39993400	Active TSS	Aorta	Aorta
34	chr7:39988200-39993400	Active TSS	Psoas Muscle	Psoas
35	chr7:39988200-39993400	Active TSS	Right Ventricle	heart
36	chr7:39988200-39993600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:39988200-39993800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr7:39988200-39996200	Active TSS	GM12878-XiMat	blood
39	chr7:39988400-39991600	Active TSS	Primary B cells from peripheral blood	blood
40	chr7:39988400-39991600	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr7:39988400-39991800	Active TSS	Brain Hippocampus Middle	brain
42	chr7:39988400-39991800	Active TSS	Rectal Smooth Muscle	rectum
43	chr7:39988400-39992000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:39988400-39992000	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr7:39988400-39992000	Active TSS	Brain Angular Gyrus	brain
46	chr7:39988400-39992000	Active TSS	Brain Substantia Nigra	brain
47	chr7:39988400-39992000	Active TSS	Fetal Muscle Trunk	muscle
48	chr7:39988400-39992200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr7:39988400-39992400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:39988400-39992400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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