Variant report

Variant	rs145610481
Chromosome Location	chr1:94712775-94712776
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

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	MAX	chr1:94712768-94713924	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr1:94712213-94712835	HCT-116	colon:	n/a	n/a
4	MXI1	chr1:94712669-94713561	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr1:94712559-94713629	PANC-1	pancreas:	n/a	n/a
6	HA-E2F1	chr1:94712767-94713619	Hela-S3	cervix:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
7	CHD1	chr1:94712476-94713714	IMR90	lung:	n/a	n/a
8	HDAC2	chr1:94712699-94713024	HepG2	liver:	n/a	n/a
9	SIN3AK20	chr1:94712607-94713666	SK-N-SH	brain:	n/a	n/a
10	ZNF143	chr1:94712758-94713465	H1-hESC	embryonic stem cell:	n/a	chr1:94713044-94713054 chr1:94712957-94712967 chr1:94713441-94713451 chr1:94713312-94713322
11	HA-E2F1	chr1:94712676-94713779	MCF-7	breast:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
12	SUZ12	chr1:94712231-94712997	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:94710886-94713722	HUVEC	blood vessel:	n/a	n/a
14	NRF1	chr1:94712324-94713696	SK-N-SH	brain:	n/a	chr1:94713374-94713383 chr1:94713045-94713054
15	FOXA1	chr1:94712424-94712836	HepG2	liver:	n/a	n/a
16	SMARCB1	chr1:94712735-94713560	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:94711220-94713680	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:94712737-94713583	HUVEC	blood vessel:	n/a	n/a
19	TAF1	chr1:94712717-94713490	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:94711984-94713774	HUVEC	blood vessel:	n/a	n/a
21	MAZ	chr1:94711799-94713976	IMR90	lung:	n/a	n/a
22	POLR2A	chr1:94710334-94714607	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr1:94712123-94714017	HCT-116	colon:	n/a	n/a
24	CTBP2	chr1:94712518-94713479	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF7L2	chr1:94712238-94713838	HCT-116	colon:	n/a	n/a
26	POLR2A	chr1:94710993-94713638	HUVEC	blood vessel:	n/a	n/a
27	BACH1	chr1:94712775-94713435	H1-hESC	embryonic stem cell:	n/a	n/a
28	FOXA2	chr1:94712466-94712776	HepG2	liver:	n/a	n/a
29	MAX	chr1:94712667-94713634	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:94712051-94714080	HCT-116	colon:	n/a	n/a
31	POLR2A	chr1:94710704-94713682	HUVEC	blood vessel:	n/a	n/a
32	ZNF263	chr1:94712140-94712811	HEK293-T-REx	kidney:	n/a	chr1:94712479-94712488
33	POLR2A	chr1:94712568-94713943	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr1:94710307-94712948	PANC-1	pancreas:	n/a	n/a
35	SIN3A	chr1:94712311-94713751	H1-hESC	embryonic stem cell:	n/a	chr1:94712958-94712967 chr1:94713434-94713445
36	CREB1	chr1:94712578-94713714	HepG2	liver:	n/a	n/a
37	RAD21	chr1:94712721-94713543	HepG2	liver:	n/a	chr1:94712901-94712914
38	RAD21	chr1:94712670-94712948	SK-N-SH_RA	brain:	n/a	chr1:94712901-94712914

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94712750-94712800	NH-A	brain:	n/a
2	chr1:94712750-94712800	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:94712750-94712800	ProgFib	skin:	n/a
4	chr1:94712750-94712800	ECC-1	luminal epithelium:	n/a
5	chr1:94712750-94712800	GM19239	blood:	n/a
6	chr1:94712750-94712800	HIPEpiC	eye:	n/a
7	chr1:94712750-94712800	CMK	blood:	n/a
8	chr1:94712750-94712800	A549	lung:	n/a
9	chr1:94712750-94712800	MCF10A-Er-Src	breast:	n/a
10	chr1:94712750-94712800	HCM	heart:	n/a
11	chr1:94712750-94712800	HMEC	breast:	n/a
12	chr1:94712750-94712800	T-47D	breast:	n/a
13	chr1:94712750-94712800	SK-N-MC	brain:	n/a
14	chr1:94712750-94712800	Hepatocyte	liver:	n/a
15	chr1:94712750-94712800	Hela-S3	cervix:	n/a
16	chr1:94712750-94712800	GM12891	blood:	n/a
17	chr1:94712750-94712800	AG09309	skin:	n/a
18	chr1:94712750-94712800	AG04450	lung:	fetal
19	chr1:94712750-94712800	MCF-7	breast:	n/a
20	chr1:94712750-94712800	SK-N-SH	brain:	n/a
21	chr1:94712750-94712800	NB4	blood:	n/a
22	chr1:94712750-94712800	ovcar-3	ovarian:	n/a
23	chr1:94712750-94712800	RPTEC	kidney:	n/a
24	chr1:94712750-94712800	AG10803	skin:	n/a
25	chr1:94712750-94712800	PANC-1	pancreas:	n/a
26	chr1:94712750-94712800	AG04449	skin:	fetal
27	chr1:94712750-94712800	LNCaP	prostate:	n/a
28	chr1:94712750-94712800	NHBE	bronchial:	n/a
29	chr1:94712750-94712800	PFSK-1	brain:	n/a
30	chr1:94712750-94712800	H1-hESC	embryonic stem cell:	embryo
31	chr1:94712750-94712800	GM06990	blood:	n/a
32	chr1:94712750-94712800	SKMC	muscle:	n/a
33	chr1:94712750-94712800	BJ	skin:	n/a
34	chr1:94712750-94712800	HRCEpiC	kidney:	n/a
35	chr1:94712750-94712800	K562	blood:	n/a
36	chr1:94712750-94712800	HNPCEpiC	eye:	n/a
37	chr1:94712750-94712800	NT2-D1	testis:	n/a
38	chr1:94712750-94712800	PrEC	prostate:	n/a
39	chr1:94712750-94712800	HepG2	liver:	n/a
40	chr1:94712750-94712800	HEK293	kidney:	embryo
41	chr1:94712750-94712800	BE2_C	brain:	n/a
42	chr1:94712750-94712800	HL-60	blood:	n/a
43	chr1:94712750-94712800	HCF	heart:	n/a
44	chr1:94712750-94712800	HRE	kidney:	n/a
45	chr1:94712750-94712800	AG09319	gingival:	n/a
46	chr1:94712750-94712800	IMR90	lung:	fetal
47	chr1:94712750-94712800	SK-N-SH_RA	brain:	n/a
48	chr1:94712750-94712800	Caco-2	colon:	n/a
49	chr1:94712750-94712800	AoSMC	blood vessel:	n/a
50	chr1:94712750-94712800	HUVEC	blood vessel:	n/a

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

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

No data

Variant related genes	Relation type
ENSG00000231363	TF binding region
ENSG00000231363	CpG island
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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94709800-94712800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:94709800-94713600	Active TSS	Right Atrium	heart
3	chr1:94710000-94713600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:94711000-94713400	Active TSS	Muscle Satellite Cultured Cells	--
5	chr1:94711000-94713800	Active TSS	Psoas Muscle	Psoas
6	chr1:94711200-94713800	Active TSS	Left Ventricle	heart
7	chr1:94711200-94713800	Active TSS	Right Ventricle	heart
8	chr1:94711400-94713000	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr1:94711400-94713600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:94711600-94713400	Active TSS	NHEK	skin
11	chr1:94711600-94713600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:94711600-94713600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:94711600-94713600	Active TSS	A549	lung
14	chr1:94711600-94713600	Active TSS	NHDF-Ad	bronchial
15	chr1:94711600-94713600	Active TSS	Osteobl	bone
16	chr1:94711800-94712800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:94711800-94713200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:94711800-94713400	Active TSS	HMEC	breast
19	chr1:94711800-94713400	Active TSS	HUVEC	blood vessel
20	chr1:94711800-94713400	Active TSS	NH-A	brain
21	chr1:94711800-94713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:94711800-94713600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:94711800-94713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:94712000-94713600	Active TSS	HSMM	muscle
25	chr1:94712000-94714000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:94712000-94714000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:94712200-94712800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:94712200-94712800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:94712200-94712800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr1:94712200-94712800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
31	chr1:94712200-94712800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:94712200-94712800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr1:94712200-94712800	Active TSS	Fetal Heart	heart
34	chr1:94712200-94712800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr1:94712200-94712800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr1:94712200-94712800	Enhancers	Spleen	Spleen
37	chr1:94712200-94713000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:94712200-94713000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr1:94712200-94713000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr1:94712200-94713000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr1:94712200-94713000	Bivalent/Poised TSS	Esophagus	oesophagus
42	chr1:94712200-94713000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr1:94712200-94713000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr1:94712200-94713000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:94712200-94713000	Bivalent/Poised TSS	Thymus	Thymus
46	chr1:94712200-94713400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:94712200-94713400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:94712200-94713400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr1:94712200-94713600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:94712200-94713600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links