Variant report

Variant	rs12986816
Chromosome Location	chr2:151091729-151091730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151091178..151094148-chr2:151094539..151097319,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10170246	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10174836	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10184785	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10190277	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10195650	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10207680	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1031212	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1031213	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1031214	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1031215	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1031216	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155072	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11682154	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11687868	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11694747	0.97[EUR][1000 genomes]
rs11886061	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11886070	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12692632	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12692633	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12692644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12996112	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13024074	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13024803	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13028397	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13419478	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13430267	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1348741	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1374157	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2376603	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4260269	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4283445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4295034	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4296450	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4318407	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4434022	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4435478	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4461280	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4464296	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4481007	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4560135	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4597551	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4597552	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4600677	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4629182	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4667341	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667343	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62170020	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6432680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432682	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432683	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6432700	0.86[EUR][1000 genomes]
rs6650776	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6733918	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7422660	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7557353	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7564853	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7566441	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7575612	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7580941	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7581265	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7581723	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7586530	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592745	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7600792	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7604483	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9678528	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs974902	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151088200-151092800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:151090400-151092200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:151090400-151092200	Enhancers	Fetal Stomach	stomach
4	chr2:151090400-151092200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr2:151090400-151092400	Enhancers	Fetal Lung	lung
6	chr2:151090800-151092000	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:151090800-151092000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:151090800-151092000	Enhancers	HUVEC	blood vessel
9	chr2:151090800-151092400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:151091000-151091800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:151091000-151091800	Enhancers	Brain Hippocampus Middle	brain
12	chr2:151091000-151091800	Enhancers	Fetal Intestine Large	intestine
13	chr2:151091000-151092000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:151091000-151092000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:151091000-151092000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:151091000-151092200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:151091200-151091800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:151091200-151091800	Enhancers	Brain Anterior Caudate	brain
19	chr2:151091200-151091800	Flanking Active TSS	HSMM	muscle
20	chr2:151091200-151091800	Flanking Active TSS	NH-A	brain
21	chr2:151091200-151091800	Flanking Active TSS	Osteobl	bone
22	chr2:151091200-151092000	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr2:151091200-151092000	Enhancers	Fetal Intestine Small	intestine
24	chr2:151091400-151091800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:151091400-151091800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:151091400-151091800	Enhancers	Brain Angular Gyrus	brain
27	chr2:151091400-151091800	Flanking Active TSS	Fetal Brain Female	brain
28	chr2:151091400-151091800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:151091400-151091800	Flanking Active TSS	HSMMtube	muscle
30	chr2:151091400-151092200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:151091400-151092200	Enhancers	NHEK	skin
32	chr2:151091600-151091800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:151091600-151091800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:151091600-151091800	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr2:151091600-151091800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:151091600-151091800	Flanking Active TSS	NHDF-Ad	bronchial
37	chr2:151091600-151092000	Flanking Active TSS	Fetal Brain Male	brain
38	chr2:151091600-151092000	Enhancers	Stomach Mucosa	stomach
39	chr2:151091600-151092200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:151091600-151092400	Enhancers	HMEC	breast
41	chr2:151091600-151092400	Enhancers	NHLF	lung
42	chr2:151091600-151092800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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