Variant report

Variant	rs10261151
Chromosome Location	chr7:50861836-50861837
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50859051-50861836	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:50859765-50861894	Hela-S3	cervix:	n/a	n/a
3	ZNF263	chr7:50859053-50862355	HEK293-T-REx	kidney:	n/a	chr7:50861142-50861151
4	GATA1	chr7:50861381-50862027	PBDE	blood:	n/a	n/a
5	JUND	chr7:50861518-50861930	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F4	chr7:50861762-50862051	MCF10A-Er-Src	breast:	n/a	n/a
7	ZMIZ1	chr7:50861536-50861963	K562	blood:	n/a	n/a
8	POLR2A	chr7:50854537-50861857	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50861834-50861884	GM19239	blood:	n/a
2	chr7:50861834-50861884	IMR90	lung:	fetal
3	chr7:50861834-50861884	PrEC	prostate:	n/a
4	chr7:50861834-50861884	RPTEC	kidney:	n/a
5	chr7:50861834-50861884	NHDF-neo	bronchial:	n/a
6	chr7:50861834-50861884	Caco-2	colon:	n/a
7	chr7:50861834-50861884	AG10803	skin:	n/a
8	chr7:50861834-50861884	AG09309	skin:	n/a
9	chr7:50861834-50861884	SK-N-SH_RA	brain:	n/a
10	chr7:50861834-50861884	AG09319	gingival:	n/a
11	chr7:50861834-50861884	HMEC	breast:	n/a
12	chr7:50861834-50861884	GM12878	blood:	n/a
13	chr7:50861834-50861884	HCT-116	colon:	n/a
14	chr7:50861834-50861884	CMK	blood:	n/a
15	chr7:50861834-50861884	PFSK-1	brain:	n/a
16	chr7:50861834-50861884	SKMC	muscle:	n/a
17	chr7:50861834-50861884	HNPCEpiC	eye:	n/a
18	chr7:50861834-50861884	U87	brain:	n/a
19	chr7:50861834-50861884	HRE	kidney:	n/a
20	chr7:50861834-50861884	HRCEpiC	kidney:	n/a
21	chr7:50861834-50861884	HEEpiC	esophagus:	n/a
22	chr7:50861834-50861884	SAEC	small airway:	n/a
23	chr7:50861834-50861884	SK-N-SH	brain:	n/a
24	chr7:50861834-50861884	HIPEpiC	eye:	n/a
25	chr7:50861834-50861884	NB4	blood:	n/a
26	chr7:50861834-50861884	MCF10A-Er-Src	breast:	n/a
27	chr7:50861834-50861884	HCF	heart:	n/a
28	chr7:50861834-50861884	HepG2	liver:	n/a
29	chr7:50861834-50861884	NH-A	brain:	n/a
30	chr7:50861834-50861884	ECC-1	luminal epithelium:	n/a
31	chr7:50861834-50861884	HUVEC	blood vessel:	n/a
32	chr7:50861834-50861884	Hela-S3	cervix:	n/a
33	chr7:50861834-50861884	HEK293	kidney:	embryo
34	chr7:50861834-50861884	A549	lung:	n/a
35	chr7:50861834-50861884	BE2_C	brain:	n/a
36	chr7:50861834-50861884	AG04449	skin:	fetal
37	chr7:50861834-50861884	ovcar-3	ovarian:	n/a
38	chr7:50861834-50861884	HPAEpiC	pulmonary alveolar:	n/a
39	chr7:50861834-50861884	HRPEpiC	eye:	n/a
40	chr7:50861834-50861884	GM12891	blood:	n/a
41	chr7:50861834-50861884	GM12892	blood:	n/a
42	chr7:50861834-50861884	MCF-7	breast:	n/a
43	chr7:50861834-50861884	Hepatocyte	liver:	n/a
44	chr7:50861834-50861884	HCPEpiC	choroid plexus:	n/a
45	chr7:50861834-50861884	HL-60	blood:	n/a
46	chr7:50861834-50861884	NHBE	bronchial:	n/a
47	chr7:50861834-50861884	HAEpiC	amniotic membrane:	n/a
48	chr7:50861834-50861884	Jurkat	blood:	n/a
49	chr7:50861834-50861884	PANC-1	pancreas:	n/a
50	chr7:50861834-50861884	HCM	heart:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:
2	chr7:50861450..50863557-chr7:50891977..50893899,2	MCF-7	breast:
3	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:

No data

Variant related genes	Relation type
GRB10	TF binding region
GRB10	CpG island
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10227996	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152128	0.85[AMR][1000 genomes]
rs59447685	0.85[AMR][1000 genomes]
rs720845	0.83[AMR][1000 genomes]
rs73697746	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3440721	chr7:50859483-50862031	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3439656	chr7:50859783-50862481	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3377483	chr7:50859883-50862631	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50860000-50862200	Bivalent/Poised TSS	NHEK	skin
2	chr7:50861000-50867400	Weak transcription	Spleen	Spleen
3	chr7:50861400-50862000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:50861400-50862000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr7:50861400-50862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:50861400-50862200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr7:50861400-50862200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr7:50861600-50862000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr7:50861600-50862000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
10	chr7:50861600-50862000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:50861600-50862200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr7:50861600-50862200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr7:50861600-50862200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
14	chr7:50861600-50862200	Enhancers	Fetal Heart	heart
15	chr7:50861800-50862000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:50861800-50862000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:50861800-50862000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:50861800-50862000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr7:50861800-50862000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:50861800-50862000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:50861800-50862000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:50861800-50862000	Enhancers	Adipose Nuclei	Adipose
23	chr7:50861800-50862000	Enhancers	Liver	Liver
24	chr7:50861800-50862000	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:50861800-50862000	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr7:50861800-50862000	Bivalent Enhancer	Placenta	Placenta
27	chr7:50861800-50862000	Enhancers	HUVEC	blood vessel
28	chr7:50861800-50862200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:50861800-50862200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr7:50861800-50862200	Bivalent/Poised TSS	Fetal Lung	lung
31	chr7:50861800-50862200	Enhancers	Left Ventricle	heart
32	chr7:50861800-50862200	Enhancers	Pancreas	Pancrea
33	chr7:50861800-50862200	Enhancers	Right Atrium	heart
34	chr7:50861800-50862200	Enhancers	A549	lung
35	chr7:50861800-50862200	Enhancers	Hela-S3	cervix
36	chr7:50861800-50862400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:50861800-50862400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:50861800-50863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:50861800-50863000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:50861800-50863400	Enhancers	HSMMtube	muscle
41	chr7:50861800-50864200	Enhancers	K562	blood
42	chr7:50861800-50867600	Weak transcription	Psoas Muscle	Psoas

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