Variant report

Variant	rs10931247
Chromosome Location	chr2:187387117-187387118
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187386798..187388432-chr2:187393071..187395661,2	K562	blood:
2	chr2:187309177..187311666-chr2:187386026..187388228,2	K562	blood:
3	chr2:187381247..187383306-chr2:187384727..187387311,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10200873	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10804005	0.83[EUR][1000 genomes]
rs11685403	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11695304	0.80[ASN][1000 genomes]
rs11891731	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693452	0.80[EUR][1000 genomes]
rs12693453	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1372649	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1376783	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1584695	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17333648	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17333690	0.80[ASN][1000 genomes]
rs17333717	0.80[ASN][1000 genomes]
rs1868384	0.80[AMR][1000 genomes]
rs2083678	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099849	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119861	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2119863	0.80[ASN][1000 genomes]
rs4144784	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4365424	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4544390	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666706	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667104	0.91[ASN][1000 genomes]
rs58300265	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66647013	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66694735	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6717629	0.80[ASN][1000 genomes]
rs6717871	0.80[ASN][1000 genomes]
rs6741214	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6755033	0.80[ASN][1000 genomes]
rs68022965	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68161763	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719071	0.91[ASN][1000 genomes]
rs719072	0.91[ASN][1000 genomes]
rs72897347	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7572236	0.80[ASN][1000 genomes]
rs7577962	0.87[ASN][1000 genomes]
rs7588772	0.82[EUR][1000 genomes];0.93[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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:187363000-187387800	Weak transcription	Pancreas	Pancrea
4	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
6	chr2:187367200-187396800	Weak transcription	Gastric	stomach
7	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:187371000-187389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
10	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
12	chr2:187373600-187388000	Weak transcription	Psoas Muscle	Psoas
13	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
14	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:187373800-187387800	Weak transcription	Right Ventricle	heart
16	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
17	chr2:187374000-187388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:187374400-187389800	Weak transcription	Brain Germinal Matrix	brain
19	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:187374800-187387800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:187374800-187388400	Weak transcription	NHLF	lung
23	chr2:187376000-187387600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:187377200-187397200	Weak transcription	HUVEC	blood vessel
25	chr2:187377800-187387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:187378400-187387600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:187378600-187387400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:187378800-187387200	Weak transcription	GM12878-XiMat	blood
29	chr2:187379000-187387800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:187379000-187388000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:187379000-187397400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:187380400-187389200	Weak transcription	Fetal Lung	lung
33	chr2:187381400-187387600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:187381400-187387600	Weak transcription	HMEC	breast
35	chr2:187381800-187406600	Weak transcription	NHEK	skin
36	chr2:187383000-187387400	Weak transcription	Primary B cells from cord blood	blood
37	chr2:187383000-187397000	Weak transcription	K562	blood
38	chr2:187383200-187387200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:187383400-187388600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:187383400-187397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:187384000-187387600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:187384200-187388200	Weak transcription	NHDF-Ad	bronchial
43	chr2:187384200-187397800	Weak transcription	A549	lung
44	chr2:187385200-187387600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:187385600-187387400	Strong transcription	Fetal Intestine Small	intestine
46	chr2:187386200-187387200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:187386200-187387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:187386200-187387800	Weak transcription	Fetal Thymus	thymus
49	chr2:187386200-187387800	Weak transcription	Dnd41	blood
50	chr2:187386200-187387800	Weak transcription	Monocytes-CD14+_RO01746	blood

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