Variant report

Variant	rs6703311
Chromosome Location	chr1:94712903-94712904
allele	G/T
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	POLR2A	chr1:94712130-94713689	ECC-1	luminal epithelium:	n/a	n/a
2	RAD21	chr1:94712826-94712991	IMR90	lung:	n/a	chr1:94712901-94712914
3	POLR2A	chr1:94712881-94712938	MCF-7	breast:	n/a	n/a
4	MAX	chr1:94712768-94713924	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr1:94712881-94713157	HepG2	liver:	n/a	chr1:94712933-94712949 chr1:94713045-94713054
6	MXI1	chr1:94712669-94713561	HepG2	liver:	n/a	n/a
7	YY1	chr1:94712823-94713638	ECC-1	luminal epithelium:	n/a	chr1:94713046-94713060 chr1:94713083-94713092 chr1:94713311-94713325 chr1:94713321-94713332 chr1:94713374-94713383 chr1:94713200-94713209 chr1:94713284-94713293 chr1:94713171-94713185 chr1:94713321-94713335 chr1:94713171-94713180 chr1:94712956-94712970 chr1:94713361-94713375 chr1:94713043-94713057
8	SIN3AK20	chr1:94712559-94713629	PANC-1	pancreas:	n/a	n/a
9	FOSL1	chr1:94712862-94713499	H1-hESC	embryonic stem cell:	n/a	chr1:94713115-94713123 chr1:94713373-94713382
10	HA-E2F1	chr1:94712767-94713619	Hela-S3	cervix:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
11	CHD1	chr1:94712476-94713714	IMR90	lung:	n/a	n/a
12	YY1	chr1:94712786-94713623	HepG2	liver:	n/a	chr1:94713046-94713060 chr1:94713083-94713092 chr1:94713311-94713325 chr1:94713321-94713332 chr1:94713374-94713383 chr1:94713200-94713209 chr1:94713284-94713293 chr1:94713171-94713185 chr1:94713321-94713335 chr1:94713171-94713180 chr1:94712956-94712970 chr1:94713361-94713375 chr1:94713043-94713057
13	HDAC2	chr1:94712699-94713024	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr1:94712607-94713666	SK-N-SH	brain:	n/a	n/a
15	ZNF143	chr1:94712758-94713465	H1-hESC	embryonic stem cell:	n/a	chr1:94713044-94713054 chr1:94712957-94712967 chr1:94713441-94713451 chr1:94713312-94713322
16	HA-E2F1	chr1:94712676-94713779	MCF-7	breast:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
17	SUZ12	chr1:94712231-94712997	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:94710886-94713722	HUVEC	blood vessel:	n/a	n/a
19	NRF1	chr1:94712324-94713696	SK-N-SH	brain:	n/a	chr1:94713374-94713383 chr1:94713045-94713054
20	POLR2A	chr1:94712853-94713939	HCT-116	colon:	n/a	n/a
21	SMARCB1	chr1:94712735-94713560	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:94711220-94713680	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr1:94712737-94713583	HUVEC	blood vessel:	n/a	n/a
24	TAF1	chr1:94712717-94713490	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:94711984-94713774	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr1:94712796-94713577	A549	lung:	n/a	n/a
27	MAZ	chr1:94711799-94713976	IMR90	lung:	n/a	n/a
28	POLR2A	chr1:94710334-94714607	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr1:94712123-94714017	HCT-116	colon:	n/a	n/a
30	CTBP2	chr1:94712518-94713479	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF7L2	chr1:94712238-94713838	HCT-116	colon:	n/a	n/a
32	RAD21	chr1:94712811-94713157	H1-hESC	embryonic stem cell:	n/a	chr1:94712901-94712914
33	POLR2A	chr1:94710993-94713638	HUVEC	blood vessel:	n/a	n/a
34	BACH1	chr1:94712775-94713435	H1-hESC	embryonic stem cell:	n/a	n/a
35	EP300	chr1:94712883-94713777	ECC-1	luminal epithelium:	n/a	chr1:94713313-94713329 chr1:94713367-94713383 chr1:94712933-94712949 chr1:94713282-94713291 chr1:94713045-94713054 chr1:94713200-94713209 chr1:94713316-94713325 chr1:94713363-94713379
36	MAX	chr1:94712667-94713634	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:94712051-94714080	HCT-116	colon:	n/a	n/a
38	POLR2A	chr1:94710704-94713682	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr1:94712844-94713714	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr1:94712568-94713943	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr1:94710307-94712948	PANC-1	pancreas:	n/a	n/a
42	SIN3A	chr1:94712311-94713751	H1-hESC	embryonic stem cell:	n/a	chr1:94712958-94712967 chr1:94713434-94713445
43	CREB1	chr1:94712578-94713714	HepG2	liver:	n/a	n/a
44	RAD21	chr1:94712721-94713543	HepG2	liver:	n/a	chr1:94712901-94712914
45	RAD21	chr1:94712670-94712948	SK-N-SH_RA	brain:	n/a	chr1:94712901-94712914

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94701840..94705805-chr1:94711160..94713439,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231363	TF binding region
ENSG00000137962	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3376734	chr1:94711789-94714337	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3450788	chr1:94712164-94714562	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3356061	chr1:94712189-94714737	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94709800-94713600	Active TSS	Right Atrium	heart
2	chr1:94710000-94713600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:94711000-94713400	Active TSS	Muscle Satellite Cultured Cells	--
4	chr1:94711000-94713800	Active TSS	Psoas Muscle	Psoas
5	chr1:94711200-94713800	Active TSS	Left Ventricle	heart
6	chr1:94711200-94713800	Active TSS	Right Ventricle	heart
7	chr1:94711400-94713000	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr1:94711400-94713600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:94711600-94713400	Active TSS	NHEK	skin
10	chr1:94711600-94713600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:94711600-94713600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:94711600-94713600	Active TSS	A549	lung
13	chr1:94711600-94713600	Active TSS	NHDF-Ad	bronchial
14	chr1:94711600-94713600	Active TSS	Osteobl	bone
15	chr1:94711800-94713200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:94711800-94713400	Active TSS	HMEC	breast
17	chr1:94711800-94713400	Active TSS	HUVEC	blood vessel
18	chr1:94711800-94713400	Active TSS	NH-A	brain
19	chr1:94711800-94713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:94711800-94713600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:94711800-94713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:94712000-94713600	Active TSS	HSMM	muscle
23	chr1:94712000-94714000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:94712000-94714000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:94712200-94713000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:94712200-94713000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr1:94712200-94713000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr1:94712200-94713000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
29	chr1:94712200-94713000	Bivalent/Poised TSS	Esophagus	oesophagus
30	chr1:94712200-94713000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr1:94712200-94713000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr1:94712200-94713000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:94712200-94713000	Bivalent/Poised TSS	Thymus	Thymus
34	chr1:94712200-94713400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:94712200-94713400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:94712200-94713400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
37	chr1:94712200-94713600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:94712200-94713600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:94712200-94713600	Active TSS	Lung	lung
40	chr1:94712200-94713800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr1:94712200-94713800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
42	chr1:94712200-94713800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:94712200-94713800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:94712200-94713800	Active TSS	Aorta	Aorta
45	chr1:94712200-94714000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:94712200-94714000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:94712200-94714000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:94712400-94713000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr1:94712400-94713000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
50	chr1:94712400-94713000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain

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