Variant report

Variant	rs1996693
Chromosome Location	chr12:31684330-31684331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10743757	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10743759	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771827	0.82[EUR][1000 genomes]
rs10771828	0.85[EUR][1000 genomes]
rs10771832	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771838	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10771843	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771844	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10771845	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771846	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843942	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10843958	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843959	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051418	0.85[EUR][1000 genomes]
rs11051435	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051437	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051439	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051441	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11615961	0.85[EUR][1000 genomes]
rs1259355	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1259428	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1259432	0.88[ASN][1000 genomes]
rs1271128	0.93[ASN][1000 genomes]
rs1469673	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2116704	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2352048	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2617190	0.81[EUR][1000 genomes]
rs2888762	0.83[EUR][1000 genomes]
rs3803113	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844573	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3850965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3853626	0.85[EUR][1000 genomes]
rs3898368	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4482118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931488	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4931501	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4931506	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4931507	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6416254	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6487989	0.81[EUR][1000 genomes]
rs6487992	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6487996	0.90[EUR][1000 genomes]
rs66521153	0.84[EUR][1000 genomes]
rs7133082	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7134365	0.85[EUR][1000 genomes]
rs7135856	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7136476	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136943	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7137406	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7294574	0.85[EUR][1000 genomes]
rs7302698	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7303447	0.85[EUR][1000 genomes]
rs7303848	0.84[EUR][1000 genomes]
rs7307593	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307616	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313118	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313158	0.81[EUR][1000 genomes]
rs7313689	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7314417	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs793184	0.80[EUR][1000 genomes]
rs7954023	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957026	0.90[EUR][1000 genomes]
rs7959877	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7962896	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963161	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7967832	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7968291	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7974437	0.92[ASN][1000 genomes]
rs7975761	0.85[EUR][1000 genomes]
rs7976644	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7977453	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9738834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31667800-31687600	Weak transcription	Pancreas	Pancrea
2	chr12:31673000-31684600	Weak transcription	Aorta	Aorta
3	chr12:31673000-31685200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:31673400-31688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:31675600-31689000	Weak transcription	Small Intestine	intestine
6	chr12:31676000-31685800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:31676400-31684600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:31678000-31686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:31678200-31686400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:31678800-31684600	Weak transcription	HSMM	muscle
11	chr12:31679000-31688800	Weak transcription	Psoas Muscle	Psoas
12	chr12:31679000-31691400	Weak transcription	Fetal Intestine Large	intestine
13	chr12:31679400-31687600	Weak transcription	Primary B cells from cord blood	blood
14	chr12:31679600-31684600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:31679600-31686400	Weak transcription	Fetal Intestine Small	intestine
16	chr12:31679800-31686000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:31679800-31692000	Weak transcription	GM12878-XiMat	blood
18	chr12:31680200-31684600	Weak transcription	Fetal Kidney	kidney
19	chr12:31680200-31684600	Weak transcription	Hela-S3	cervix
20	chr12:31680200-31686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:31680400-31684800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:31680400-31685200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:31680400-31685800	Weak transcription	Adipose Nuclei	Adipose
24	chr12:31680400-31685800	Weak transcription	HepG2	liver
25	chr12:31680400-31686400	Weak transcription	Fetal Heart	heart
26	chr12:31680400-31686400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:31680600-31685200	Weak transcription	Right Ventricle	heart
28	chr12:31680600-31687800	Weak transcription	Left Ventricle	heart
29	chr12:31681200-31686600	Enhancers	A549	lung
30	chr12:31681200-31691000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:31681200-31691600	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:31681400-31685800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:31681400-31686600	Weak transcription	Brain Anterior Caudate	brain
34	chr12:31682400-31684600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:31683600-31684800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:31683600-31685200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:31683600-31685400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:31683600-31687000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:31684000-31684400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:31684000-31685400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:31684000-31685800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:31684000-31686400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:31684200-31685200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:31684200-31685400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:31684200-31686600	Enhancers	Ovary	ovary

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