Variant report

Variant	rs3803114
Chromosome Location	chr12:31723862-31723863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10771826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10771830	0.82[EUR][1000 genomes]
rs10771833	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs10771835	0.85[EUR][1000 genomes]
rs10771837	0.84[EUR][1000 genomes]
rs10843937	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10843938	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10843953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs10843954	0.84[EUR][1000 genomes]
rs10843957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843962	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10843966	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843968	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843971	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843972	0.91[EUR][1000 genomes]
rs11051417	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11051428	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11051440	0.88[EUR][1000 genomes]
rs11051446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051454	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051461	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051467	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051472	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051476	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11051478	0.84[EUR][1000 genomes]
rs1150949	0.85[ASN][1000 genomes]
rs12368987	0.91[EUR][1000 genomes]
rs12369701	0.89[ASN][1000 genomes]
rs12371432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1259360	0.85[ASN][1000 genomes]
rs1268747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1677193	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs16918740	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1879385	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2163730	0.80[EUR][1000 genomes]
rs2351921	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2351922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2351923	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34498192	0.83[EUR][1000 genomes]
rs3741877	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3741878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3850966	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3887250	0.92[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3898712	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4931499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes]
rs4931511	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4931512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4931513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61097018	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6487991	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6487995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7132688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7136559	0.85[EUR][1000 genomes]
rs7297507	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297997	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7300106	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[EUR][1000 genomes]
rs7301326	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7302695	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73080572	0.81[EUR][1000 genomes]
rs7308202	0.82[EUR][1000 genomes]
rs7311970	0.92[EUR][1000 genomes]
rs7313889	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7314404	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7960380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7963764	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7980274	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	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
7	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
8	nsv975410	chr12:31717422-31725241	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv52934	chr12:31721932-31731107	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31709200-31727600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:31711000-31727400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:31714200-31726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:31714200-31728600	Weak transcription	Psoas Muscle	Psoas
5	chr12:31716600-31724000	Weak transcription	Gastric	stomach
6	chr12:31719000-31731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:31720000-31727600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:31720000-31731400	Weak transcription	Brain Germinal Matrix	brain
9	chr12:31720200-31727400	Weak transcription	Brain Anterior Caudate	brain
10	chr12:31721000-31724000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:31721000-31726400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:31721600-31742400	Weak transcription	Aorta	Aorta
13	chr12:31721800-31726200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:31722000-31726600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:31722200-31724600	Weak transcription	Right Ventricle	heart
16	chr12:31722200-31731000	Weak transcription	HSMM	muscle
17	chr12:31722800-31727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:31722800-31727600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:31722800-31727800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:31722800-31730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:31722800-31735200	Weak transcription	Spleen	Spleen
22	chr12:31723200-31724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:31723600-31724000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:31723600-31724000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:31723600-31724200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:31723600-31724200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:31723600-31724200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr12:31723600-31724200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:31723600-31724200	Enhancers	Fetal Intestine Small	intestine
30	chr12:31723600-31724200	Enhancers	Fetal Kidney	kidney
31	chr12:31723600-31724200	Enhancers	Fetal Lung	lung
32	chr12:31723600-31724200	Flanking Active TSS	A549	lung
33	chr12:31723600-31724200	Enhancers	NH-A	brain
34	chr12:31723600-31724400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:31723600-31724400	Enhancers	HepG2	liver
36	chr12:31723600-31724600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:31723600-31724600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:31723600-31724600	Enhancers	Fetal Heart	heart
39	chr12:31723600-31728400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:31723800-31724000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:31723800-31724000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:31723800-31724000	Enhancers	Fetal Intestine Large	intestine
43	chr12:31723800-31724000	Enhancers	Stomach Mucosa	stomach
44	chr12:31723800-31724000	Enhancers	HSMMtube	muscle
45	chr12:31723800-31724200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:31723800-31724200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr12:31723800-31724200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:31723800-31724200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:31723800-31724200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:31723800-31724200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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