Variant report

Variant	rs7803348
Chromosome Location	chr7:11170219-11170220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11169416..11171057-chr7:11171117..11173550,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1029583	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1029584	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10950334	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11975710	0.89[EUR][1000 genomes]
rs12667160	1.00[ASN][1000 genomes]
rs13232272	0.90[EUR][1000 genomes]
rs1483201	0.87[EUR][1000 genomes]
rs1483202	0.86[EUR][1000 genomes]
rs1483204	0.87[EUR][1000 genomes]
rs1547944	0.88[ASN][1000 genomes]
rs1636756	0.83[EUR][1000 genomes]
rs1681290	0.81[EUR][1000 genomes]
rs1681291	0.80[EUR][1000 genomes]
rs17346506	0.87[EUR][1000 genomes]
rs17347241	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs182594	0.83[EUR][1000 genomes]
rs2190293	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs220089	0.81[EUR][1000 genomes]
rs220091	0.82[EUR][1000 genomes]
rs220094	0.84[EUR][1000 genomes]
rs220095	0.83[EUR][1000 genomes]
rs220097	0.82[EUR][1000 genomes]
rs2301959	0.87[EUR][1000 genomes]
rs2353340	0.84[EUR][1000 genomes]
rs2353341	0.87[EUR][1000 genomes]
rs2353342	0.86[EUR][1000 genomes]
rs2906564	0.94[EUR][1000 genomes]
rs2906565	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2995902	0.94[EUR][1000 genomes]
rs34166672	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34295894	0.89[EUR][1000 genomes]
rs34665460	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35507980	0.88[EUR][1000 genomes]
rs35580506	0.88[EUR][1000 genomes]
rs35594158	0.89[EUR][1000 genomes]
rs35648039	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801435	0.84[EUR][1000 genomes]
rs3801441	0.87[EUR][1000 genomes]
rs3801444	0.90[EUR][1000 genomes]
rs3801449	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801450	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801451	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62440480	0.87[EUR][1000 genomes]
rs62440485	0.86[ASN][1000 genomes]
rs6969350	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7782589	0.89[EUR][1000 genomes]
rs7789963	0.82[EUR][1000 genomes]
rs7791995	0.82[EUR][1000 genomes]
rs7806039	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9639071	0.83[EUR][1000 genomes]
rs9768601	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv428162	chr7:11085784-11359333	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv830901	chr7:11093455-11272219	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv916426	chr7:11095057-11201696	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv887603	chr7:11104985-11231727	Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv1031075	chr7:11136339-11187167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
18	nsv606195	chr7:11140383-11216782	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv606196	chr7:11144030-11255948	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
20	nsv1029654	chr7:11147593-11263834	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
21	nsv538731	chr7:11147593-11263834	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
3	chr7:11076400-11193200	Weak transcription	Ovary	ovary
4	chr7:11091800-11174200	Weak transcription	Left Ventricle	heart
5	chr7:11102200-11189200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:11102600-11173200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:11102600-11173400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:11102600-11190400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:11103000-11189000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
11	chr7:11113200-11211800	Weak transcription	Fetal Intestine Large	intestine
12	chr7:11114600-11210000	Weak transcription	Fetal Brain Female	brain
13	chr7:11118000-11199000	Weak transcription	HSMM	muscle
14	chr7:11122800-11173000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:11123000-11173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:11123000-11177800	Weak transcription	HepG2	liver
17	chr7:11125400-11188000	Weak transcription	Small Intestine	intestine
18	chr7:11141000-11173400	Weak transcription	NHEK	skin
19	chr7:11144400-11173600	Weak transcription	Liver	Liver
20	chr7:11144600-11184800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:11144600-11191000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:11148000-11192200	Weak transcription	Fetal Stomach	stomach
23	chr7:11148600-11174400	Weak transcription	A549	lung
24	chr7:11149200-11191200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:11149600-11171400	Weak transcription	Pancreas	Pancrea
26	chr7:11149800-11171600	Weak transcription	Aorta	Aorta
27	chr7:11150800-11178400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:11150800-11188200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:11151200-11174200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:11151400-11176200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:11151800-11178400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:11156400-11174600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:11156400-11209800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:11157000-11174200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:11157000-11174200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:11157000-11174800	Weak transcription	K562	blood
37	chr7:11157000-11181000	Weak transcription	Adipose Nuclei	Adipose
38	chr7:11157000-11192600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:11157000-11199600	Weak transcription	Fetal Lung	lung
40	chr7:11160400-11188400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:11161400-11175200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:11161800-11179000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:11161800-11190200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:11162000-11182200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:11162600-11174400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:11162800-11170400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:11162800-11174200	Weak transcription	Dnd41	blood
48	chr7:11167200-11171000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:11167400-11173800	Weak transcription	NHDF-Ad	bronchial
50	chr7:11167400-11176200	Weak transcription	GM12878-XiMat	blood

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