Variant report

Variant	rs6487992
Chromosome Location	chr12:31636624-31636625
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:100)

rs_ID	r²[population]
rs1012154	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs10743757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743758	0.92[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap]
rs10743759	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10771828	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10771832	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771838	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771843	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10771844	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10771845	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10771846	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10843942	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843947	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10843958	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843959	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843963	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11051418	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051435	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051439	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051441	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150953	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs1150955	0.81[CHB][hapmap]
rs11615961	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1259235	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs1259236	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1259355	0.89[ASN][1000 genomes]
rs1259356	0.81[CHB][hapmap]
rs1259359	0.81[CHB][hapmap]
rs1259428	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1259432	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1259437	0.81[CHB][hapmap]
rs1271128	0.88[ASN][1000 genomes]
rs1272773	0.81[CHB][hapmap]
rs1469673	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1677189	0.80[CHB][hapmap]
rs1716216	0.87[CHB][hapmap]
rs1996693	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2116704	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2352048	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2568884	0.82[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2617190	0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2617191	0.81[CHB][hapmap]
rs2617200	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2682680	0.82[AMR][1000 genomes]
rs2682697	0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs2888762	0.87[AMR][1000 genomes]
rs3803113	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3844573	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850965	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3898368	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4482118	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930980	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4931488	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4931501	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931506	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931507	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416254	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487989	0.87[AMR][1000 genomes]
rs66521153	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs708209	0.85[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap]
rs7133082	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7134365	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7135856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136476	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7136943	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137406	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294574	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302698	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7303447	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7303848	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7307593	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307616	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313118	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313158	0.86[AMR][1000 genomes]
rs7313689	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314417	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs793146	0.81[AMR][1000 genomes]
rs793154	0.81[ASN][1000 genomes]
rs793157	0.83[ASN][1000 genomes]
rs793174	0.81[CHB][hapmap]
rs793176	0.86[CHB][hapmap]
rs793177	0.81[CHB][hapmap]
rs793180	0.84[AMR][1000 genomes]
rs793184	0.84[AMR][1000 genomes]
rs793186	0.81[CHB][hapmap]
rs7954023	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954595	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957026	0.92[CEU][hapmap]
rs7959877	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7962896	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963161	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7967832	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7968291	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7974437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7975761	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7976644	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7977453	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899159	0.81[CHB][hapmap]
rs9738834	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats 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	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:31577800-31649400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:31583400-31662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:31585000-31642000	Weak transcription	Fetal Kidney	kidney
7	chr12:31594400-31648400	Weak transcription	Small Intestine	intestine
8	chr12:31605400-31647200	Weak transcription	Psoas Muscle	Psoas
9	chr12:31605600-31637000	Weak transcription	Fetal Stomach	stomach
10	chr12:31620200-31644800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:31627600-31638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:31628800-31643400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:31628800-31644200	Weak transcription	Pancreas	Pancrea
14	chr12:31628800-31655800	Weak transcription	Gastric	stomach
15	chr12:31629000-31645000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:31630400-31655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:31630800-31638800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:31631600-31644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:31631800-31638800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:31632000-31638600	Weak transcription	Fetal Heart	heart
21	chr12:31632600-31638400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:31632600-31640800	Weak transcription	Fetal Lung	lung
23	chr12:31632800-31637000	Weak transcription	Fetal Intestine Small	intestine
24	chr12:31632800-31638600	Weak transcription	Placenta	Placenta
25	chr12:31632800-31644400	Weak transcription	Brain Germinal Matrix	brain
26	chr12:31632800-31645200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:31633000-31638400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:31633000-31638600	Weak transcription	Brain Anterior Caudate	brain
29	chr12:31633000-31641200	Weak transcription	Primary B cells from cord blood	blood
30	chr12:31633000-31644000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:31633000-31644000	Weak transcription	HepG2	liver
32	chr12:31633000-31644200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:31633000-31644400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:31633000-31644400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:31633000-31644400	Weak transcription	HSMMtube	muscle
36	chr12:31633000-31644600	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:31633000-31645200	Weak transcription	Right Ventricle	heart
38	chr12:31633000-31648800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:31633000-31651600	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:31633000-31652400	Weak transcription	Fetal Brain Female	brain
41	chr12:31633200-31638000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:31633200-31638400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:31633200-31641400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:31633200-31642200	Weak transcription	Liver	Liver
45	chr12:31633200-31644400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:31633200-31644400	Weak transcription	HSMM	muscle
47	chr12:31633200-31644600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:31633200-31645000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:31633200-31647200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:31633200-31647200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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