Variant report

Variant	rs7796063
Chromosome Location	chr7:39646813-39646814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:39646632-39646960	SH-SY5Y	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:39646802-39646852	NT2-D1	testis:	n/a
2	chr7:39646802-39646852	NHBE	bronchial:	n/a
3	chr7:39646802-39646852	SK-N-MC	brain:	n/a
4	chr7:39646802-39646852	HCPEpiC	choroid plexus:	n/a
5	chr7:39646802-39646852	ProgFib	skin:	n/a
6	chr7:39646802-39646852	HCM	heart:	n/a
7	chr7:39646802-39646852	GM12891	blood:	n/a
8	chr7:39646802-39646852	SKMC	muscle:	n/a
9	chr7:39646802-39646852	HEEpiC	esophagus:	n/a
10	chr7:39646802-39646852	HRPEpiC	eye:	n/a
11	chr7:39646802-39646852	HPAEpiC	pulmonary alveolar:	n/a
12	chr7:39646802-39646852	H1-hESC	embryonic stem cell:	embryo
13	chr7:39646802-39646852	MCF-7	breast:	n/a
14	chr7:39646802-39646852	BE2_C	brain:	n/a
15	chr7:39646802-39646852	HCF	heart:	n/a
16	chr7:39646802-39646852	HNPCEpiC	eye:	n/a
17	chr7:39646802-39646852	GM12878	blood:	n/a
18	chr7:39646802-39646852	AG10803	skin:	n/a
19	chr7:39646802-39646852	ECC-1	luminal epithelium:	n/a
20	chr7:39646802-39646852	A549	lung:	n/a
21	chr7:39646802-39646852	Hepatocyte	liver:	n/a
22	chr7:39646802-39646852	U87	brain:	n/a
23	chr7:39646802-39646852	RPTEC	kidney:	n/a
24	chr7:39646802-39646852	AG09309	skin:	n/a
25	chr7:39646802-39646852	NHDF-neo	bronchial:	n/a
26	chr7:39646802-39646852	HL-60	blood:	n/a
27	chr7:39646802-39646852	HMEC	breast:	n/a
28	chr7:39646802-39646852	Caco-2	colon:	n/a
29	chr7:39646802-39646852	MCF10A-Er-Src	breast:	n/a
30	chr7:39646802-39646852	Jurkat	blood:	n/a
31	chr7:39646802-39646852	HRE	kidney:	n/a
32	chr7:39646802-39646852	IMR90	lung:	fetal
33	chr7:39646802-39646852	HIPEpiC	eye:	n/a
34	chr7:39646802-39646852	HEK293	kidney:	embryo
35	chr7:39646802-39646852	K562	blood:	n/a
36	chr7:39646802-39646852	GM06990	blood:	n/a
37	chr7:39646802-39646852	T-47D	breast:	n/a
38	chr7:39646802-39646852	GM19239	blood:	n/a
39	chr7:39646802-39646852	HRCEpiC	kidney:	n/a
40	chr7:39646802-39646852	SK-N-SH	brain:	n/a
41	chr7:39646802-39646852	AoSMC	blood vessel:	n/a
42	chr7:39646802-39646852	ovcar-3	ovarian:	n/a
43	chr7:39646802-39646852	BJ	skin:	n/a
44	chr7:39646802-39646852	Hela-S3	cervix:	n/a
45	chr7:39646802-39646852	NB4	blood:	n/a
46	chr7:39646802-39646852	AG04449	skin:	fetal
47	chr7:39646802-39646852	SAEC	small airway:	n/a
48	chr7:39646802-39646852	NH-A	brain:	n/a
49	chr7:39646802-39646852	HAEpiC	amniotic membrane:	n/a
50	chr7:39646802-39646852	HCT-116	colon:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:39643975..39649260-chr7:39661579..39666438,6	K562	blood:
2	chr7:39645097..39647250-chr7:39658816..39661772,2	MCF-7	breast:
3	chr7:39646267..39647952-chr7:39648806..39651030,2	K562	blood:
4	chr7:39640592..39642673-chr7:39644409..39647009,2	K562	blood:
5	chr7:39646713..39648755-chr7:39989334..39991291,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106540	TF binding region
ENSG00000106540	CpG island
ENSG00000065883	Chromatin interaction
ENSG00000106540	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000231951	Chromatin interaction
ENSG00000259826	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10245247	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10258946	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266149	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10486800	1.00[CEU][hapmap]
rs11983705	0.80[AFR][1000 genomes]
rs11983755	0.80[AFR][1000 genomes]
rs12111908	1.00[ASN][1000 genomes]
rs17171603	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs17416652	1.00[CEU][hapmap]
rs17507685	1.00[CEU][hapmap]
rs17507748	1.00[CEU][hapmap]
rs17508696	1.00[CEU][hapmap]
rs17713754	0.84[ASN][1000 genomes]
rs17713951	0.88[ASN][1000 genomes]
rs17714049	1.00[ASN][1000 genomes]
rs17770594	0.84[ASN][1000 genomes]
rs17770612	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs17770625	0.84[ASN][1000 genomes]
rs1989533	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2329455	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2329459	0.81[AFR][1000 genomes]
rs2329460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2329461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876859	0.80[AFR][1000 genomes]
rs4236361	0.80[AFR][1000 genomes]
rs4236363	0.80[AFR][1000 genomes]
rs4451213	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4469364	0.92[AFR][1000 genomes]
rs4720329	0.94[AFR][1000 genomes]
rs4723881	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723883	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58299139	0.84[ASN][1000 genomes]
rs59071947	0.84[ASN][1000 genomes]
rs61493712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958662	0.95[AFR][1000 genomes]
rs6968742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73375695	0.84[ASN][1000 genomes]
rs73379304	0.80[AFR][1000 genomes]
rs7777173	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7785964	0.84[ASN][1000 genomes]
rs7807233	1.00[CEU][hapmap]
rs7809088	0.95[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39642200-39648200	Weak transcription	NH-A	brain
2	chr7:39642400-39647800	Weak transcription	NHDF-Ad	bronchial
3	chr7:39642400-39647800	Weak transcription	Osteobl	bone
4	chr7:39642400-39648000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:39642600-39648600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:39643000-39648400	Enhancers	HUVEC	blood vessel
7	chr7:39643400-39649000	Enhancers	Primary T cells from cord blood	blood
8	chr7:39643800-39647000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:39643800-39649200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:39644000-39648000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:39644000-39648600	Enhancers	HMEC	breast
12	chr7:39644400-39649000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:39644600-39649000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:39644600-39649000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:39644600-39649000	Enhancers	NHEK	skin
16	chr7:39644800-39649800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:39645200-39647200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:39645200-39647200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:39645200-39647800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:39645200-39647800	Weak transcription	NHLF	lung
21	chr7:39645200-39648600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:39645200-39649400	Weak transcription	HSMMtube	muscle
23	chr7:39645200-39661600	Weak transcription	A549	lung
24	chr7:39645400-39647800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:39645400-39647800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:39645400-39648000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:39645400-39648000	Weak transcription	Small Intestine	intestine
28	chr7:39645400-39648000	Weak transcription	HSMM	muscle
29	chr7:39645400-39648600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:39645400-39649000	Weak transcription	Fetal Intestine Large	intestine
31	chr7:39645400-39649000	Weak transcription	Left Ventricle	heart
32	chr7:39645400-39649000	Weak transcription	Psoas Muscle	Psoas
33	chr7:39645800-39648600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:39646000-39649000	Weak transcription	Fetal Heart	heart
35	chr7:39646200-39647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:39646200-39648800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:39646400-39647600	Weak transcription	Dnd41	blood
38	chr7:39646400-39650000	Enhancers	Stomach Mucosa	stomach
39	chr7:39646800-39647800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:39646800-39647800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:39646800-39648600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:39646800-39649000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:39646800-39649200	Weak transcription	K562	blood

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