Variant report

Variant	rs11675656
Chromosome Location	chr2:187387638-187387639
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187386798..187388432-chr2:187393071..187395661,2	K562	blood:
2	chr2:187309177..187311666-chr2:187386026..187388228,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10177153	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10181681	0.89[EUR][1000 genomes]
rs10190003	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10198525	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10200749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497671	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497672	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs11675633	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11678950	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690758	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11692347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11888432	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901465	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11903027	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12621915	1.00[YRI][hapmap]
rs13392819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13394241	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13401304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428033	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1448848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1448849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1448855	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16827968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16827994	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17334436	1.00[YRI][hapmap]
rs1868383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1869031	0.93[EUR][1000 genomes]
rs2084488	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2197139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2370688	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2887826	0.82[ASN][1000 genomes]
rs35642346	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56137171	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61434493	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6434174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6709401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs6717525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6728382	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6731567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72893450	0.92[AFR][1000 genomes]
rs72895449	0.82[ASN][1000 genomes]
rs72897386	0.82[EUR][1000 genomes]
rs72901315	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901322	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579259	0.82[ASN][1000 genomes]
rs7584137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7603088	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917285	0.81[EUR][1000 genomes];0.82[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11675656	ZC3H15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:187363000-187387800	Weak transcription	Pancreas	Pancrea
3	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
5	chr2:187367200-187396800	Weak transcription	Gastric	stomach
6	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:187371000-187389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
9	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
11	chr2:187373600-187388000	Weak transcription	Psoas Muscle	Psoas
12	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
13	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:187373800-187387800	Weak transcription	Right Ventricle	heart
15	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
16	chr2:187374000-187388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:187374400-187389800	Weak transcription	Brain Germinal Matrix	brain
18	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:187374800-187387800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:187374800-187388400	Weak transcription	NHLF	lung
22	chr2:187377200-187397200	Weak transcription	HUVEC	blood vessel
23	chr2:187379000-187387800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:187379000-187388000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:187379000-187397400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:187380400-187389200	Weak transcription	Fetal Lung	lung
27	chr2:187381800-187406600	Weak transcription	NHEK	skin
28	chr2:187383000-187397000	Weak transcription	K562	blood
29	chr2:187383400-187388600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:187383400-187397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:187384200-187388200	Weak transcription	NHDF-Ad	bronchial
32	chr2:187384200-187397800	Weak transcription	A549	lung
33	chr2:187386200-187387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:187386200-187387800	Weak transcription	Fetal Thymus	thymus
35	chr2:187386200-187387800	Weak transcription	Dnd41	blood
36	chr2:187386200-187387800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:187386200-187388000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:187386200-187388000	Weak transcription	Spleen	Spleen
39	chr2:187386200-187388200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:187386200-187388400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:187386200-187388400	Weak transcription	Left Ventricle	heart
42	chr2:187386200-187388400	Weak transcription	Ovary	ovary
43	chr2:187386200-187388600	Weak transcription	Aorta	Aorta
44	chr2:187386200-187392600	Weak transcription	Thymus	Thymus
45	chr2:187386200-187395800	Weak transcription	NH-A	brain
46	chr2:187386200-187397000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:187386200-187397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:187386200-187398400	Weak transcription	Liver	Liver
49	chr2:187386200-187405200	Weak transcription	HSMM	muscle
50	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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