Variant report

Variant	rs544703271
Chromosome Location	chr10:51371694-51371695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr10:51371614-51372020	K562	blood:	n/a	n/a
2	HEY1	chr10:51370703-51372115	HepG2	liver:	n/a	n/a
3	TAF1	chr10:51371032-51371766	GM12878	blood:	n/a	n/a
4	SP1	chr10:51371060-51371694	A549	lung:	n/a	n/a
5	POLR2A	chr10:51370311-51372418	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr10:51370966-51372014	GM12892	blood:	n/a	n/a
7	POLR2A	chr10:51370370-51372126	GM12892	blood:	n/a	n/a
8	TAF1	chr10:51370741-51371707	GM12891	blood:	n/a	n/a
9	SIN3AK20	chr10:51371041-51371883	SK-N-SH	brain:	n/a	n/a
10	PAX5	chr10:51371137-51371789	GM12878	blood:	n/a	n/a
11	ZBTB33	chr10:51371132-51372072	GM12878	blood:	n/a	n/a
12	TAF1	chr10:51370659-51371725	HepG2	liver:	n/a	n/a
13	POLR2A	chr10:51370420-51372067	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:51370752-51371823	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:51370363-51372088	Hela-S3	cervix:	n/a	n/a
16	IRF4	chr10:51371052-51371938	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:51371062-51371977	GM12891	blood:	n/a	n/a
18	POLR2A	chr10:51370534-51371933	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr10:51370998-51371969	GM12891	blood:	n/a	n/a
20	EBF1	chr10:51370694-51371699	GM12878	blood:	n/a	n/a
21	POU2F2	chr10:51370623-51371929	GM12878	blood:	n/a	n/a
22	POLR2A	chr10:51370668-51371738	MCF-7	breast:	n/a	n/a
23	JUND	chr10:51371171-51371726	A549	lung:	n/a	n/a
24	POU2F2	chr10:51370958-51371839	GM12891	blood:	n/a	n/a
25	TEAD4	chr10:51371166-51371704	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3AK20	chr10:51370739-51371912	HepG2	liver:	n/a	n/a
27	FOXA2	chr10:51371081-51371752	A549	lung:	n/a	n/a
28	POLR2A	chr10:51370376-51372373	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:51369481-51372312	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr10:51371008-51371834	PANC-1	pancreas:	n/a	n/a
31	TAF1	chr10:51370502-51372065	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr10:51370905-51371836	U87	brain:	n/a	n/a
33	NR2F2	chr10:51370622-51371780	K562	blood:	n/a	n/a
34	POLR2A	chr10:51370310-51372059	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:51370983-51371714	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr10:51370352-51372098	GM12891	blood:	n/a	n/a
37	POLR2A	chr10:51370979-51371738	PFSK-1	brain:	n/a	n/a
38	FOXM1	chr10:51371157-51371835	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:51370551-51371698	GM12878	blood:	n/a	n/a
40	PAX5	chr10:51370688-51371918	GM12878	blood:	n/a	chr10:51371786-51371804
41	PAX5	chr10:51371102-51371958	GM12878	blood:	n/a	chr10:51371786-51371804
42	CBX3	chr10:51370429-51371746	K562	blood:	n/a	n/a
43	TAF1	chr10:51371080-51371934	GM12891	blood:	n/a	n/a
44	POLR2A	chr10:51370404-51372057	GM12891	blood:	n/a	n/a
45	POLR2A	chr10:51370887-51371768	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr10:51370761-51371804	ProgFib	skin:	n/a	n/a
47	POLR2A	chr10:51370501-51371903	K562	blood:	n/a	n/a
48	POLR2A	chr10:51370928-51371741	GM12878	blood:	n/a	n/a
49	HEY1	chr10:51370797-51372017	HepG2	liver:	n/a	n/a
50	POLR2A	chr10:51370365-51372098	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:51371691-51371741	GM19239	blood:	n/a
2	chr10:51371691-51371741	MCF10A-Er-Src	breast:	n/a
3	chr10:51371691-51371741	RPTEC	kidney:	n/a
4	chr10:51371691-51371741	CMK	blood:	n/a
5	chr10:51371691-51371741	HRCEpiC	kidney:	n/a
6	chr10:51371691-51371741	AG10803	skin:	n/a
7	chr10:51371691-51371741	MCF-7	breast:	n/a
8	chr10:51371691-51371741	HCM	heart:	n/a
9	chr10:51371691-51371741	HEK293	kidney:	embryo
10	chr10:51371691-51371741	A549	lung:	n/a
11	chr10:51371691-51371741	HRPEpiC	eye:	n/a
12	chr10:51371691-51371741	HRE	kidney:	n/a
13	chr10:51371691-51371741	SK-N-SH	brain:	n/a
14	chr10:51371691-51371741	HepG2	liver:	n/a
15	chr10:51371691-51371741	ProgFib	skin:	n/a
16	chr10:51371691-51371741	GM12878	blood:	n/a
17	chr10:51371691-51371741	LNCaP	prostate:	n/a
18	chr10:51371691-51371741	ECC-1	luminal epithelium:	n/a
19	chr10:51371691-51371741	NHBE	bronchial:	n/a
20	chr10:51371691-51371741	Caco-2	colon:	n/a
21	chr10:51371691-51371741	NH-A	brain:	n/a
22	chr10:51371691-51371741	HPAEpiC	pulmonary alveolar:	n/a
23	chr10:51371691-51371741	Jurkat	blood:	n/a
24	chr10:51371691-51371741	SAEC	small airway:	n/a
25	chr10:51371691-51371741	K562	blood:	n/a
26	chr10:51371691-51371741	Hepatocyte	liver:	n/a
27	chr10:51371691-51371741	AoSMC	blood vessel:	n/a
28	chr10:51371691-51371741	HUVEC	blood vessel:	n/a
29	chr10:51371691-51371741	PrEC	prostate:	n/a
30	chr10:51371691-51371741	ovcar-3	ovarian:	n/a
31	chr10:51371691-51371741	PFSK-1	brain:	n/a
32	chr10:51371691-51371741	SK-N-SH_RA	brain:	n/a
33	chr10:51371691-51371741	AG04449	skin:	fetal
34	chr10:51371691-51371741	NB4	blood:	n/a
35	chr10:51371691-51371741	SK-N-MC	brain:	n/a
36	chr10:51371691-51371741	Hela-S3	cervix:	n/a
37	chr10:51371691-51371741	HL-60	blood:	n/a
38	chr10:51371691-51371741	HMEC	breast:	n/a
39	chr10:51371691-51371741	BJ	skin:	n/a
40	chr10:51371691-51371741	HNPCEpiC	eye:	n/a
41	chr10:51371691-51371741	HIPEpiC	eye:	n/a
42	chr10:51371691-51371741	T-47D	breast:	n/a
43	chr10:51371691-51371741	NT2-D1	testis:	n/a
44	chr10:51371691-51371741	IMR90	lung:	fetal
45	chr10:51371691-51371741	NHDF-neo	bronchial:	n/a
46	chr10:51371691-51371741	H1-hESC	embryonic stem cell:	embryo
47	chr10:51371691-51371741	AG09309	skin:	n/a
48	chr10:51371691-51371741	U87	brain:	n/a
49	chr10:51371691-51371741	SKMC	muscle:	n/a
50	chr10:51371691-51371741	AG04450	lung:	fetal

No data

Variant related genes	Relation type
AGAP8	TF binding region
ENSG00000244393	TF binding region
ENSG00000225784	TF binding region
ENSG00000225784	CpG island
ENSG00000244393	CpG island
AGAP8	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv32940	chr10:51051718-51488059	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv895381	chr10:51094660-51515534	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv1830900	chr10:51187411-51903662	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv895383	chr10:51260747-51724915	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv895382	chr10:51330433-51515534	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1048474	chr10:51330433-51545872	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv1796295	chr10:51371074-51521245	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1806057	chr10:51371074-51521245	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1821612	chr10:51371074-51521245	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv1825752	chr10:51371074-51521245	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv1844388	chr10:51371074-51521245	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv427864	chr10:51371074-51521245	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51370800-51371800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:51370800-51371800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:51370800-51371800	Active TSS	Adipose Nuclei	Adipose
4	chr10:51370800-51371800	Active TSS	Left Ventricle	heart
5	chr10:51370800-51371800	Active TSS	Lung	lung
6	chr10:51370800-51371800	Active TSS	HUVEC	blood vessel
7	chr10:51370800-51371800	Active TSS	NHLF	lung
8	chr10:51370800-51372200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:51370800-51372200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr10:51370800-51372200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:51370800-51372200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:51370800-51372200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:51370800-51372200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:51370800-51372200	Active TSS	Ovary	ovary
15	chr10:51370800-51372200	Active TSS	Hela-S3	cervix
16	chr10:51371000-51372200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:51371200-51372000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:51371200-51377600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:51371200-51379000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:51371200-51379200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:51371200-51379200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:51371600-51372200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr10:51371600-51372200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr10:51371600-51372200	Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links