Variant report

Variant	rs7777173
Chromosome Location	chr7:39646709-39646710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr7:39645994-39646740	PBDE	blood:	n/a	chr7:39646194-39646203
2	GATA3	chr7:39646632-39646960	SH-SY5Y	brain:	n/a	n/a

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:

Variant related genes	Relation type
ENSG00000106540	TF binding region
ENSG00000106540	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000231951	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10236547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10245247	0.85[EUR][1000 genomes]
rs10258946	0.85[EUR][1000 genomes]
rs10266149	0.85[EUR][1000 genomes]
rs10486798	1.00[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs10486800	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11765134	1.00[YRI][hapmap]
rs17416652	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17507685	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17507748	1.00[CEU][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17508696	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17712902	1.00[ASW][hapmap]
rs1989533	0.88[EUR][1000 genomes]
rs2329461	0.82[EUR][1000 genomes]
rs2329462	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2329463	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4723881	0.85[EUR][1000 genomes]
rs4723882	1.00[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs4723883	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4723884	1.00[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs4723885	0.83[EUR][1000 genomes]
rs61493712	0.82[EUR][1000 genomes]
rs6968742	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7796063	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7801411	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7807233	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][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:42 , 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	chr7:39644600-39646800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:39644600-39649000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr7:39644600-39649000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr7:39644600-39649000	Enhancers	NHEK	skin
17	chr7:39644800-39649800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:39645000-39646800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:39645200-39647200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr7:39645200-39647200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:39645200-39647800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:39645200-39647800	Weak transcription	NHLF	lung
23	chr7:39645200-39648600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:39645200-39649400	Weak transcription	HSMMtube	muscle
25	chr7:39645200-39661600	Weak transcription	A549	lung
26	chr7:39645400-39647800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:39645400-39647800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:39645400-39648000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:39645400-39648000	Weak transcription	Small Intestine	intestine
30	chr7:39645400-39648000	Weak transcription	HSMM	muscle
31	chr7:39645400-39648600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:39645400-39649000	Weak transcription	Fetal Intestine Large	intestine
33	chr7:39645400-39649000	Weak transcription	Left Ventricle	heart
34	chr7:39645400-39649000	Weak transcription	Psoas Muscle	Psoas
35	chr7:39645800-39648600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:39646000-39646800	Enhancers	K562	blood
37	chr7:39646000-39649000	Weak transcription	Fetal Heart	heart
38	chr7:39646200-39646800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:39646200-39647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:39646200-39648800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:39646400-39647600	Weak transcription	Dnd41	blood
42	chr7:39646400-39650000	Enhancers	Stomach Mucosa	stomach

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