Variant report

Variant	rs62463717
Chromosome Location	chr7:101468680-101468681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:101468498-101468927	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:101468600-101468750	HEK293	kidney:	n/a	n/a
3	CTCF	chr7:101468660-101468810	HPF	lung:	n/a	n/a
4	POLR2A	chr7:101468561-101468874	K562	blood:	n/a	n/a
5	CTCF	chr7:101468560-101468710	GM12864	blood:	n/a	n/a
6	CTCF	chr7:101468620-101468770	BE2_C	brain:	n/a	n/a
7	CTCF	chr7:101468680-101468830	HCM	heart:	n/a	n/a
8	CTCF	chr7:101468666-101468784	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr7:101468643-101468784	Gliobla	brain:	n/a	n/a
10	CTCF	chr7:101468680-101468830	BJ	skin:	n/a	n/a
11	CTCF	chr7:101468673-101468790	K562	blood:	n/a	n/a
12	CTCF	chr7:101468620-101468822	HepG2	liver:	n/a	n/a
13	CTCF	chr7:101468620-101468770	HRE	kidney:	n/a	n/a
14	CTCF	chr7:101468620-101468770	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr7:101468640-101468823	K562	blood:	n/a	n/a
16	CTCF	chr7:101468680-101468830	BE2_C	brain:	n/a	n/a
17	POLR2A	chr7:101468575-101468905	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF263	chr7:101468625-101468912	HEK293-T-REx	kidney:	n/a	n/a
19	CTCF	chr7:101468560-101468710	HMF	breast:	n/a	n/a
20	CTCF	chr7:101468620-101468770	HA-sp	spinal cord:	n/a	n/a
21	RAD21	chr7:101468581-101468800	HepG2	liver:	n/a	n/a
22	RAD21	chr7:101468514-101468902	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr7:101468660-101468810	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr7:101468633-101468780	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr7:101468632-101468748	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr7:101468660-101468810	HFF-Myc	foreskin:	n/a	n/a
27	ZNF143	chr7:101468662-101468851	K562	blood:	n/a	n/a
28	POLR2A	chr7:101468546-101468874	H1-neurons	neurons:	n/a	n/a
29	KAP1	chr7:101468510-101468830	U2OS	brain:	n/a	n/a
30	CTCF	chr7:101468600-101468750	A549	lung:	n/a	n/a
31	CTCF	chr7:101468620-101468770	HUVEC	blood vessel:	n/a	n/a
32	JUND	chr7:101468617-101468792	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr7:101468648-101468809	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:101468640-101468790	AG04449	skin:	n/a	n/a
35	RAD21	chr7:101468463-101469009	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr7:101468628-101468822	K562	blood:	n/a	n/a
37	CTCF	chr7:101468600-101468750	AG04449	skin:	n/a	n/a
38	CTCF	chr7:101468640-101468790	Caco-2	colon:	n/a	n/a
39	POLR2A	chr7:101468524-101468919	K562	blood:	n/a	n/a
40	CTCF	chr7:101468639-101468799	A549	lung:	n/a	n/a
41	CTCF	chr7:101468640-101468790	RPTEC	kidney:	n/a	n/a
42	GABPA	chr7:101468529-101468862	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr7:101468660-101468810	AG04450	lung:	n/a	n/a
44	SIN3A	chr7:101468570-101469006	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr7:101468680-101468830	HBMEC	blood vessel:	n/a	n/a
46	RAD21	chr7:101468547-101468915	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr7:101468623-101468849	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF143	chr7:101468611-101468836	H1-hESC	embryonic stem cell:	n/a	n/a
49	SMC3	chr7:101468583-101468893	HepG2	liver:	n/a	n/a
50	CTCF	chr7:101468585-101468869	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101468629..101471194-chr7:101478234..101481000,2	K562	blood:
2	chr7:101468302..101469126-chr7:101880009..101880608,2	MCF-7	breast:
3	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
4	chr7:101468558..101470418-chr7:101481796..101483360,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259294	TF binding region
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11771998	1.00[AFR][1000 genomes]
rs11772618	1.00[AFR][1000 genomes]
rs2529183	1.00[AFR][1000 genomes]
rs4276617	1.00[AFR][1000 genomes]
rs4436052	1.00[AFR][1000 genomes]
rs4535653	1.00[AFR][1000 genomes]
rs4602818	1.00[AFR][1000 genomes]
rs4642556	1.00[AFR][1000 genomes]
rs62463667	1.00[AFR][1000 genomes]
rs62463668	1.00[AFR][1000 genomes]
rs62463669	1.00[AFR][1000 genomes]
rs62463672	1.00[AFR][1000 genomes]
rs62463674	1.00[AFR][1000 genomes]
rs62463676	1.00[AFR][1000 genomes]
rs62466345	1.00[AFR][1000 genomes]
rs62466346	1.00[AFR][1000 genomes]
rs62466347	1.00[AFR][1000 genomes]
rs62466348	1.00[AFR][1000 genomes]
rs62466349	1.00[AFR][1000 genomes]
rs62466351	1.00[AFR][1000 genomes]
rs62466354	1.00[AFR][1000 genomes]
rs62466355	1.00[AFR][1000 genomes]
rs62466357	1.00[AFR][1000 genomes]
rs62466358	1.00[AFR][1000 genomes]
rs62467460	1.00[AFR][1000 genomes]
rs62467463	1.00[AFR][1000 genomes]
rs62467464	1.00[AFR][1000 genomes]
rs62467465	1.00[AFR][1000 genomes]
rs62467466	1.00[AFR][1000 genomes]
rs62467468	1.00[AFR][1000 genomes]
rs62467469	1.00[AFR][1000 genomes]
rs7785622	1.00[AFR][1000 genomes]
rs7796161	1.00[AFR][1000 genomes]
rs7811421	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv824243	chr7:101445202-101479651	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101461200-101469800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr7:101461200-101471800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:101461200-101475200	Weak transcription	Esophagus	oesophagus
4	chr7:101461200-101475400	Weak transcription	Colonic Mucosa	Colon
5	chr7:101461200-101475400	Weak transcription	Gastric	stomach
6	chr7:101461200-101486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:101461400-101470600	Weak transcription	NHLF	lung
8	chr7:101461400-101471400	Weak transcription	Primary T cells from cord blood	blood
9	chr7:101461400-101473000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:101461600-101469800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:101461800-101477000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:101461800-101489200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:101462000-101469400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:101462000-101470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:101462000-101477000	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:101462200-101470200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:101462200-101472600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:101462200-101473200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:101462200-101482200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:101462200-101484200	Weak transcription	Fetal Kidney	kidney
21	chr7:101462400-101468800	Weak transcription	Lung	lung
22	chr7:101462400-101470400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:101462400-101474200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:101462600-101471400	Weak transcription	Osteobl	bone
25	chr7:101462800-101471800	Weak transcription	Primary B cells from cord blood	blood
26	chr7:101462800-101471800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:101463200-101471000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:101463800-101489800	Weak transcription	NHEK	skin
29	chr7:101464400-101468800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:101464400-101469400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:101464400-101472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:101464400-101478400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:101464600-101488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:101465800-101482000	Weak transcription	K562	blood
35	chr7:101466200-101470000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr7:101466600-101469200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:101466800-101469000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:101466800-101469000	Enhancers	Rectal Smooth Muscle	rectum
39	chr7:101466800-101469600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:101466800-101470000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:101466800-101470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:101466800-101471200	Weak transcription	GM12878-XiMat	blood
43	chr7:101466800-101471600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:101466800-101482200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:101466800-101489800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:101466800-101498400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:101467000-101469200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:101467000-101471400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:101467000-101471800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:101467000-101473000	Weak transcription	Fetal Muscle Leg	muscle

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