Variant report

Variant	rs12334141
Chromosome Location	chr7:40067850-40067851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10081308	0.83[EUR][1000 genomes]
rs10156182	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10233552	0.91[ASN][1000 genomes]
rs10234693	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10246466	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1024680	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10252631	0.88[ASN][1000 genomes]
rs10254394	0.87[ASN][1000 genomes]
rs10268288	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10272641	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10275761	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1082028	0.95[EUR][1000 genomes]
rs1082030	0.88[EUR][1000 genomes]
rs10951624	0.88[ASN][1000 genomes]
rs10951625	0.85[ASN][1000 genomes]
rs11972983	0.87[ASN][1000 genomes]
rs11980745	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11983287	0.91[ASN][1000 genomes]
rs12531761	0.91[ASN][1000 genomes]
rs12531774	0.88[ASN][1000 genomes]
rs12533272	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534074	0.86[EUR][1000 genomes]
rs12535524	0.80[EUR][1000 genomes]
rs12536190	0.86[ASN][1000 genomes]
rs12536726	0.89[ASN][1000 genomes]
rs12537125	0.88[ASN][1000 genomes]
rs12537320	0.85[ASN][1000 genomes]
rs1257698	0.91[ASN][1000 genomes]
rs1257699	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12669872	0.86[ASN][1000 genomes]
rs1403381	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1568645	0.88[EUR][1000 genomes]
rs17171645	0.89[ASN][1000 genomes]
rs17171646	0.91[ASN][1000 genomes]
rs17496429	0.89[ASN][1000 genomes]
rs17496670	0.88[ASN][1000 genomes]
rs17496733	0.85[ASN][1000 genomes]
rs17538125	0.89[ASN][1000 genomes]
rs2015842	0.85[ASN][1000 genomes]
rs2052097	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2077124	0.85[ASN][1000 genomes]
rs2109339	0.89[ASN][1000 genomes]
rs2109340	0.86[EUR][1000 genomes]
rs2159488	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2159489	0.89[ASN][1000 genomes]
rs2302341	0.88[ASN][1000 genomes]
rs2329693	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28742222	0.84[EUR][1000 genomes]
rs33999222	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3800799	0.82[ASN][1000 genomes]
rs3800802	0.82[ASN][1000 genomes]
rs3801238	0.85[ASN][1000 genomes]
rs3847019	0.85[ASN][1000 genomes]
rs3847020	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3847021	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3911836	0.85[ASN][1000 genomes]
rs3911889	0.85[ASN][1000 genomes]
rs4720347	0.88[ASN][1000 genomes]
rs4720348	0.89[ASN][1000 genomes]
rs4720349	0.88[ASN][1000 genomes]
rs4723925	0.88[ASN][1000 genomes]
rs4723927	0.91[ASN][1000 genomes]
rs4723928	0.91[ASN][1000 genomes]
rs4723929	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4723931	0.85[EUR][1000 genomes]
rs6952597	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6960111	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6963804	0.86[EUR][1000 genomes]
rs6966917	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6975853	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs731847	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs731848	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs758696	0.88[ASN][1000 genomes]
rs773379	0.89[EUR][1000 genomes]
rs773381	0.90[EUR][1000 genomes]
rs773385	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs773386	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs773393	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs773397	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs773402	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs773403	0.95[EUR][1000 genomes]
rs773410	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs773411	0.89[ASN][1000 genomes]
rs773413	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs773414	0.95[EUR][1000 genomes]
rs773415	0.89[EUR][1000 genomes]
rs773424	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7779663	0.85[ASN][1000 genomes]
rs7797041	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7799846	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7810509	0.84[EUR][1000 genomes]
rs9639818	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv887978	chr7:40030488-40124137	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv429748	chr7:40054760-40140660	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
3	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
4	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
5	chr7:40028000-40077800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
7	chr7:40028200-40073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:40034400-40072200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:40042800-40070400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:40043600-40071600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:40043600-40076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:40043600-40079800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:40043600-40095200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:40043600-40127800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:40044400-40096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:40047600-40102600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:40048000-40102400	Weak transcription	HMEC	breast
18	chr7:40048000-40102400	Weak transcription	NHEK	skin
19	chr7:40048600-40074800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:40049000-40085600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:40049000-40085800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:40049000-40096200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:40049200-40074800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:40050000-40075400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:40050400-40075000	Weak transcription	Esophagus	oesophagus
26	chr7:40051000-40071200	Weak transcription	Lung	lung
27	chr7:40054400-40070800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:40055600-40126400	Weak transcription	Aorta	Aorta
29	chr7:40055800-40070800	Weak transcription	Fetal Brain Female	brain
30	chr7:40055800-40070800	Weak transcription	Pancreas	Pancrea
31	chr7:40055800-40072000	Weak transcription	Stomach Mucosa	stomach
32	chr7:40055800-40074200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:40055800-40077000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:40055800-40077000	Weak transcription	Psoas Muscle	Psoas
35	chr7:40055800-40082600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:40055800-40092200	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:40055800-40097000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:40055800-40102400	Weak transcription	NHLF	lung
39	chr7:40055800-40110000	Weak transcription	Gastric	stomach
40	chr7:40055800-40127600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:40055800-40127600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:40056000-40073400	Weak transcription	Brain Angular Gyrus	brain
43	chr7:40056000-40092200	Weak transcription	Brain Substantia Nigra	brain
44	chr7:40056000-40097000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:40056000-40097800	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:40056000-40097800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:40056000-40105400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:40056000-40112200	Weak transcription	HepG2	liver
49	chr7:40056200-40128600	Weak transcription	A549	lung
50	chr7:40058400-40070400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links