Variant report

Variant	rs11891127
Chromosome Location	chr2:173455243-173455244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10048692	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10048707	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10048825	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176813	1.00[ASN][1000 genomes]
rs10178654	1.00[ASN][1000 genomes]
rs10180021	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186869	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197678	0.93[ASN][1000 genomes]
rs10199472	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201129	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202550	1.00[ASN][1000 genomes]
rs10207262	0.80[ASN][1000 genomes]
rs10208151	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210546	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10427189	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10427315	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887454	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890159	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896032	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896178	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897165	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897495	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897582	1.00[ASN][1000 genomes]
rs11898137	1.00[ASN][1000 genomes]
rs11898890	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901110	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901586	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11902810	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902907	1.00[ASN][1000 genomes]
rs11904158	0.83[AFR][1000 genomes]
rs11904366	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693005	1.00[ASN][1000 genomes]
rs12693007	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990751	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007707	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13008835	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13009291	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010205	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019331	0.83[AFR][1000 genomes]
rs13023751	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024218	0.80[ASN][1000 genomes]
rs13024431	0.80[ASN][1000 genomes]
rs13032610	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032692	1.00[ASN][1000 genomes]
rs13385403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385644	0.93[ASN][1000 genomes]
rs13386103	1.00[ASN][1000 genomes]
rs13388338	1.00[ASN][1000 genomes]
rs13392808	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394924	1.00[ASN][1000 genomes]
rs13401945	0.80[ASN][1000 genomes]
rs13401980	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405998	0.80[ASN][1000 genomes]
rs13408780	0.80[ASN][1000 genomes]
rs13415156	0.80[ASN][1000 genomes]
rs13415174	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417334	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425344	0.80[ASN][1000 genomes]
rs1531151	0.80[ASN][1000 genomes]
rs16860696	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299956	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17702263	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869922	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982410	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599267	0.80[ASN][1000 genomes]
rs2606069	0.80[ASN][1000 genomes]
rs28537209	1.00[ASN][1000 genomes]
rs3087500	1.00[ASN][1000 genomes]
rs34051646	0.83[AFR][1000 genomes]
rs34139806	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34611798	0.80[ASN][1000 genomes]
rs34707897	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34888332	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35086707	0.80[ASN][1000 genomes]
rs35156154	0.80[ASN][1000 genomes]
rs35665064	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35809888	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35880823	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35951155	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35999155	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36118221	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3613	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56953655	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59004833	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59104969	0.93[ASN][1000 genomes]
rs62167832	0.87[ASN][1000 genomes]
rs62169270	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169301	0.80[ASN][1000 genomes]
rs66460331	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710129	0.83[AFR][1000 genomes]
rs6723872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738196	0.83[AFR][1000 genomes]
rs6752257	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752386	0.80[AFR][1000 genomes]
rs70937080	0.93[ASN][1000 genomes]
rs7566884	0.93[ASN][1000 genomes]
rs7567092	0.93[ASN][1000 genomes]
rs7584769	0.80[AFR][1000 genomes]
rs836589	0.80[ASN][1000 genomes]
rs9287957	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv875415	chr2:173444462-173501069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
2	chr2:173426200-173460600	Weak transcription	HSMMtube	muscle
3	chr2:173430600-173461600	Weak transcription	Right Ventricle	heart
4	chr2:173431400-173480600	Weak transcription	Gastric	stomach
5	chr2:173432000-173462400	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:173439800-173458000	Weak transcription	NHDF-Ad	bronchial
7	chr2:173440200-173458200	Weak transcription	Osteobl	bone
8	chr2:173440200-173467600	Weak transcription	NH-A	brain
9	chr2:173443200-173472200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:173443800-173463200	Weak transcription	A549	lung
11	chr2:173444000-173456200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:173444000-173464000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:173444200-173455600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:173444200-173470400	Weak transcription	Psoas Muscle	Psoas
15	chr2:173444400-173480200	Strong transcription	HepG2	liver
16	chr2:173444600-173465400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:173445000-173455400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:173445200-173463200	Weak transcription	Fetal Brain Female	brain
19	chr2:173445400-173461000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:173445400-173462600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:173445400-173471000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:173446400-173460400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:173447800-173460200	Weak transcription	HUVEC	blood vessel
24	chr2:173448000-173463400	Weak transcription	Stomach Mucosa	stomach
25	chr2:173448200-173459000	Weak transcription	Brain Germinal Matrix	brain
26	chr2:173448800-173455800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:173449400-173455400	Strong transcription	Fetal Thymus	thymus
28	chr2:173449400-173456200	Strong transcription	Fetal Intestine Small	intestine
29	chr2:173449400-173456400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:173449400-173460400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:173449400-173462400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:173449600-173455400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:173449600-173456600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:173449800-173455800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:173449800-173455800	Strong transcription	Fetal Intestine Large	intestine
36	chr2:173449800-173455800	Strong transcription	Fetal Stomach	stomach
37	chr2:173449800-173462800	Strong transcription	Primary B cells from cord blood	blood
38	chr2:173450400-173456600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:173451200-173465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:173451600-173455400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:173451600-173462800	Strong transcription	Primary T cells from cord blood	blood
42	chr2:173451600-173463400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:173451800-173460200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:173451800-173471800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:173452000-173455800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:173452000-173456000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:173452000-173456200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:173452000-173460000	Weak transcription	Ovary	ovary
49	chr2:173452000-173479800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:173452200-173462400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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