Variant report

Variant	rs674259
Chromosome Location	chr11:77048820-77048821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs11237141	0.91[ASN][1000 genomes]
rs11237142	0.91[ASN][1000 genomes]
rs11237148	0.91[ASN][1000 genomes]
rs11237150	0.91[ASN][1000 genomes]
rs11237151	0.91[ASN][1000 genomes]
rs11237164	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1125619	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11512967	0.83[ASN][1000 genomes]
rs1225478	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361757	0.91[ASN][1000 genomes]
rs12363707	0.91[ASN][1000 genomes]
rs12363842	0.91[ASN][1000 genomes]
rs12366261	0.88[ASN][1000 genomes]
rs1237490	0.91[EUR][1000 genomes]
rs12794253	0.91[ASN][1000 genomes]
rs1377472	0.91[ASN][1000 genomes]
rs1597954	0.84[ASN][1000 genomes]
rs1622364	0.91[ASN][1000 genomes]
rs1670446	0.91[ASN][1000 genomes]
rs1670449	0.91[ASN][1000 genomes]
rs1670450	0.91[ASN][1000 genomes]
rs1670456	0.91[ASN][1000 genomes]
rs1670458	0.91[ASN][1000 genomes]
rs1670461	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670462	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17824184	0.91[ASN][1000 genomes]
rs1793468	0.91[ASN][1000 genomes]
rs1793471	0.88[ASN][1000 genomes]
rs1793472	0.91[ASN][1000 genomes]
rs1793487	0.91[ASN][1000 genomes]
rs1793490	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2154754	0.80[EUR][1000 genomes]
rs2156567	0.91[ASN][1000 genomes]
rs2602476	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602483	0.91[ASN][1000 genomes]
rs2602487	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2725820	0.96[ASN][1000 genomes]
rs2725822	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2725825	0.91[ASN][1000 genomes]
rs2725828	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015982	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3015983	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3015985	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3015986	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3015988	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3015990	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3015992	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3019233	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3019234	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3019235	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3019236	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3019249	0.84[EUR][1000 genomes]
rs3019257	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34025917	0.87[EUR][1000 genomes]
rs34880271	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375461	0.91[ASN][1000 genomes]
rs472691	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs476258	0.89[EUR][1000 genomes]
rs479104	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs493256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494289	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503406	0.94[EUR][1000 genomes]
rs505841	0.88[EUR][1000 genomes]
rs508662	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs51500	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520938	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs522015	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523481	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs531638	0.87[EUR][1000 genomes]
rs535008	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs552323	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557484	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs558470	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560571	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs561386	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs562845	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs563731	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs572485	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs576220	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs580624	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592602	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595654	0.87[EUR][1000 genomes]
rs598801	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644551	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs649040	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653792	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657269	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs66518011	0.88[ASN][1000 genomes]
rs66540426	0.91[ASN][1000 genomes]
rs66728428	0.91[ASN][1000 genomes]
rs683455	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs683762	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684793	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs686068	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689108	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7934230	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7949721	0.89[EUR][1000 genomes]
rs883680	0.91[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	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats 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
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised 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	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
3	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:77030800-77054200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:77031600-77066400	Weak transcription	Gastric	stomach
6	chr11:77031600-77073800	Weak transcription	Spleen	Spleen
7	chr11:77031800-77070400	Weak transcription	Fetal Brain Male	brain
8	chr11:77032200-77066400	Weak transcription	Lung	lung
9	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:77033800-77059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:77034400-77054600	Weak transcription	Pancreas	Pancrea
13	chr11:77034400-77059200	Weak transcription	Psoas Muscle	Psoas
14	chr11:77034400-77086200	Weak transcription	NHLF	lung
15	chr11:77034600-77051600	Weak transcription	Brain Anterior Caudate	brain
16	chr11:77034800-77063800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:77034800-77064000	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:77037600-77051600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:77041800-77056600	Weak transcription	HSMMtube	muscle
20	chr11:77042600-77049200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr11:77042600-77053600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:77042800-77080800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:77043000-77049200	Strong transcription	Placenta	Placenta
24	chr11:77043000-77049800	Strong transcription	Adipose Nuclei	Adipose
25	chr11:77043000-77051600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:77043000-77056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:77043000-77061000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:77043200-77055400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr11:77043400-77054600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:77043400-77056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:77043400-77066400	Weak transcription	Esophagus	oesophagus
32	chr11:77043400-77072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:77043400-77074800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:77043400-77082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:77043400-77083600	Weak transcription	Thymus	Thymus
36	chr11:77043600-77060800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:77043800-77049800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:77043800-77056400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:77043800-77071400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:77043800-77088400	Weak transcription	Colonic Mucosa	Colon
41	chr11:77044000-77055800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:77044000-77056400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:77044000-77057800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:77044000-77061800	Weak transcription	Stomach Mucosa	stomach
45	chr11:77044000-77062000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:77044200-77062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:77044200-77075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:77044600-77071600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:77045400-77055000	Strong transcription	HSMM	muscle
50	chr11:77045400-77056200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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