Variant report

Variant	rs1991114
Chromosome Location	chr12:29392082-29392083
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10047562	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1035604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771507	0.83[EUR][1000 genomes]
rs10771508	0.86[EUR][1000 genomes]
rs10843361	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843366	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843367	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843371	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843373	0.88[EUR][1000 genomes]
rs10843375	0.87[EUR][1000 genomes]
rs10843377	0.90[ASN][1000 genomes]
rs10843382	0.84[ASN][1000 genomes]
rs10843384	0.81[ASN][1000 genomes]
rs11050151	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11050152	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050153	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11050157	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11050161	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050162	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050163	0.88[EUR][1000 genomes]
rs11050167	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050170	0.90[ASN][1000 genomes]
rs11050181	0.82[ASN][1000 genomes]
rs11050187	0.81[ASN][1000 genomes]
rs11050189	0.80[ASN][1000 genomes]
rs12366505	0.80[ASN][1000 genomes]
rs12366527	0.80[ASN][1000 genomes]
rs16934135	0.80[ASN][1000 genomes]
rs2042511	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194518	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2194519	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2194520	0.87[EUR][1000 genomes]
rs2216853	0.87[EUR][1000 genomes]
rs2216854	0.87[EUR][1000 genomes]
rs2349975	0.81[ASN][1000 genomes]
rs3782506	0.84[ASN][1000 genomes]
rs3782509	0.85[ASN][1000 genomes]
rs4331146	0.84[ASN][1000 genomes]
rs6487790	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6487796	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6487805	0.84[ASN][1000 genomes]
rs6487808	0.82[ASN][1000 genomes]
rs67146951	0.84[ASN][1000 genomes]
rs67150462	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67517901	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7131987	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7139273	0.82[EUR][1000 genomes]
rs7299861	0.87[EUR][1000 genomes]
rs7301188	0.80[ASN][1000 genomes]
rs7302129	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308125	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7311912	0.80[ASN][1000 genomes]
rs7312164	0.80[ASN][1000 genomes]
rs7316004	0.87[EUR][1000 genomes]
rs737160	0.83[EUR][1000 genomes]
rs7954278	0.84[ASN][1000 genomes]
rs7954871	0.84[ASN][1000 genomes]
rs7957339	0.84[ASN][1000 genomes]
rs7958210	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7970390	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7973786	0.82[ASN][1000 genomes]
rs7974221	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7976961	0.82[ASN][1000 genomes]
rs918873	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs962866	0.82[EUR][1000 genomes]
rs9738721	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:29379000-29393400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:29379600-29394600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:29381000-29393200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:29381800-29394600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:29381800-29394800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:29382200-29393400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:29384000-29393200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:29384400-29393200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:29388600-29394800	Weak transcription	NHEK	skin
11	chr12:29388800-29394600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:29390200-29394800	Enhancers	HUVEC	blood vessel
13	chr12:29390400-29394400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:29391600-29393400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:29391600-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:29391800-29392200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:29391800-29392200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:29391800-29392200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:29391800-29392400	Enhancers	NH-A	brain
20	chr12:29391800-29392400	Enhancers	NHDF-Ad	bronchial
21	chr12:29391800-29392600	Enhancers	Osteobl	bone
22	chr12:29391800-29393400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:29391800-29394600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:29391800-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:29392000-29392400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr12:29392000-29392400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:29392000-29392400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:29392000-29392400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:29392000-29392400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr12:29392000-29392400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:29392000-29392400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:29392000-29392400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:29392000-29392400	Enhancers	Adipose Nuclei	Adipose
34	chr12:29392000-29393000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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