Variant report

Variant	rs7940646
Chromosome Location	chr11:10669228-10669229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10662421..10664986-chr11:10669210..10672158,2	K562	blood:
2	chr11:10655188..10657860-chr11:10668660..10671375,2	MCF-7	breast:
3	chr11:10661837..10665351-chr11:10668716..10672933,3	K562	blood:

Variant related genes	Relation type
ENSG00000072952	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1035691	1.00[JPT][hapmap]
rs10840453	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840457	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042902	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11042906	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603178	1.00[JPT][hapmap]
rs1462940	1.00[JPT][hapmap]
rs1544861	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16908001	1.00[JPT][hapmap]
rs16927077	1.00[CHB][hapmap];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[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863244	1.00[JPT][hapmap]
rs1979367	1.00[JPT][hapmap]
rs2052690	0.88[AMR][1000 genomes]
rs2052691	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052692	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2098839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4025	1.00[JPT][hapmap]
rs41464450	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4442541	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909945	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910160	1.00[JPT][hapmap]
rs4910165	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484437	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936275	0.82[AMR][1000 genomes]
rs881869	1.00[JPT][hapmap]
rs903822	1.00[JPT][hapmap]
rs903823	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

Variant related diseases (count:1)

Disease	PMID	Source
Platelet aggregation	20526338	GWAS catalog

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10646000-10679000	Weak transcription	Fetal Lung	lung
2	chr11:10646200-10679200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:10650400-10678600	Weak transcription	Right Ventricle	heart
4	chr11:10651800-10670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:10658800-10676600	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:10661200-10673600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:10662400-10672000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:10663600-10670200	Weak transcription	NHDF-Ad	bronchial
9	chr11:10664200-10672000	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:10664200-10678800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:10664400-10675000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:10664600-10670600	Weak transcription	Primary B cells from cord blood	blood
13	chr11:10665000-10670000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:10665600-10672200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:10666400-10669400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:10666400-10671800	Genic enhancers	Stomach Smooth Muscle	stomach
17	chr11:10666800-10669400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:10666800-10669400	Genic enhancers	Aorta	Aorta
19	chr11:10667400-10669600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:10667600-10669400	Enhancers	Brain Substantia Nigra	brain
21	chr11:10667600-10669400	Enhancers	Lung	lung
22	chr11:10667600-10671400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:10667800-10669400	Enhancers	Brain Hippocampus Middle	brain
24	chr11:10668000-10669400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:10668200-10670400	Strong transcription	Fetal Stomach	stomach
26	chr11:10668200-10671000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:10668200-10671000	Weak transcription	Ovary	ovary
28	chr11:10668200-10673200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:10668200-10673400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:10668400-10670400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:10668400-10671600	Genic enhancers	Colon Smooth Muscle	Colon
32	chr11:10668400-10672200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:10668400-10673200	Weak transcription	Left Ventricle	heart
34	chr11:10668400-10673800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:10668600-10669600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:10668600-10669600	Enhancers	Fetal Intestine Large	intestine
37	chr11:10668600-10669600	Enhancers	HMEC	breast
38	chr11:10668600-10669800	Enhancers	A549	lung
39	chr11:10668600-10670200	Weak transcription	Right Atrium	heart
40	chr11:10668600-10670800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:10668600-10671200	Enhancers	Placenta	Placenta
42	chr11:10668600-10672600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:10668600-10673400	Weak transcription	Spleen	Spleen
44	chr11:10668600-10674200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:10668600-10674400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:10668800-10669600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:10668800-10669600	Enhancers	NHEK	skin
48	chr11:10668800-10670200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr11:10668800-10670200	Enhancers	K562	blood
50	chr11:10668800-10671400	Enhancers	Skeletal Muscle Male	skeletal muscle

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