Variant report

Variant	rs1863245
Chromosome Location	chr11:10695946-10695947
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10688135..10690797-chr11:10695097..10696777,2	K562	blood:
2	chr11:10694517..10697367-chr11:10731815..10734225,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1035691	1.00[JPT][hapmap]
rs10770131	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10840457	1.00[JPT][hapmap]
rs11042902	1.00[JPT][hapmap]
rs11603178	1.00[JPT][hapmap]
rs1390571	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390575	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462940	1.00[JPT][hapmap]
rs16908001	1.00[JPT][hapmap]
rs16927077	1.00[JPT][hapmap]
rs17318955	1.00[JPT][hapmap]
rs17403439	1.00[JPT][hapmap]
rs17403460	1.00[JPT][hapmap]
rs17403795	1.00[JPT][hapmap]
rs17403942	1.00[JPT][hapmap]
rs17403977	1.00[JPT][hapmap]
rs1863243	1.00[JPT][hapmap]
rs1863244	1.00[JPT][hapmap]
rs1874443	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874445	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979367	1.00[JPT][hapmap]
rs2098839	1.00[JPT][hapmap]
rs4025	1.00[JPT][hapmap]
rs41464450	1.00[JPT][hapmap]
rs4442541	1.00[JPT][hapmap]
rs4909945	1.00[JPT][hapmap]
rs4910160	1.00[JPT][hapmap]
rs4910165	1.00[JPT][hapmap]
rs733534	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925193	0.86[YRI][hapmap]
rs7940646	1.00[JPT][hapmap]
rs7947953	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7951153	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs881869	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890115	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903822	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903823	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903824	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2753762	chr11:10688217-10701438	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv7676	chr11:10689144-10734139	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1863245	OR6A2	cis	parietal	SCAN
rs1863245	STK33	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10680600-10696200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:10691000-10696000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:10691000-10696200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:10691000-10697200	Weak transcription	Stomach Mucosa	stomach
5	chr11:10691600-10696200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:10691800-10696200	Weak transcription	Right Ventricle	heart
7	chr11:10692000-10696000	Weak transcription	Fetal Intestine Small	intestine
8	chr11:10692000-10696200	Weak transcription	Ovary	ovary
9	chr11:10692200-10696800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:10692200-10697000	Weak transcription	Aorta	Aorta
11	chr11:10693600-10696200	Enhancers	NHDF-Ad	bronchial
12	chr11:10694400-10697600	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:10694400-10698000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:10694600-10696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:10694600-10697200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:10694600-10698400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:10694600-10698800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:10695000-10698000	Enhancers	NHLF	lung
19	chr11:10695200-10696200	Enhancers	Brain Hippocampus Middle	brain
20	chr11:10695200-10697400	Enhancers	Brain Angular Gyrus	brain
21	chr11:10695200-10697400	Enhancers	Brain Substantia Nigra	brain
22	chr11:10695400-10696000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:10695400-10696000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr11:10695400-10696000	Enhancers	Fetal Lung	lung
25	chr11:10695400-10696000	Enhancers	Osteobl	bone
26	chr11:10695400-10696200	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:10695400-10696200	Enhancers	Psoas Muscle	Psoas
28	chr11:10695400-10696600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
29	chr11:10695400-10696800	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr11:10695400-10696800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:10695400-10697200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:10695400-10697400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:10695400-10699000	Enhancers	Spleen	Spleen
34	chr11:10695600-10696000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:10695600-10696000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:10695600-10696000	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:10695600-10696000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:10695600-10696000	Flanking Active TSS	Colonic Mucosa	Colon
39	chr11:10695600-10696200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr11:10695600-10696200	Enhancers	Small Intestine	intestine
41	chr11:10695600-10696200	Enhancers	A549	lung
42	chr11:10695600-10696600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:10695600-10696800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:10695600-10697000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:10695600-10697000	Enhancers	Gastric	stomach
46	chr11:10695600-10697000	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr11:10695600-10697200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:10695600-10697200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:10695600-10697200	Enhancers	Liver	Liver
50	chr11:10695600-10697200	Enhancers	Fetal Muscle Leg	muscle

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