Variant report

Variant	rs1046864
Chromosome Location	chr11:36510547-36510548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36506176..36507964-chr11:36509718..36511671,2	K562	blood:
2	chr11:36510096..36512978-chr11:36521901..36524593,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10836567	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033623	1.00[MEX][hapmap]
rs11033641	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033644	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033647	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033650	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033651	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11600757	1.00[MEX][hapmap]
rs12281565	1.00[MEX][hapmap]
rs12294785	0.83[CEU][hapmap]
rs2201845	0.91[CEU][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs2303439	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs331457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331459	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331463	0.89[EUR][1000 genomes]
rs44883	0.83[CEU][hapmap];0.80[GIH][hapmap]
rs4755453	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs502243	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030403	0.90[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5030409	0.91[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs5030437	1.00[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs5030445	1.00[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs5030470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030472	0.91[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[ASN][1000 genomes]
rs5030482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5030485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5030486	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs540386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552140	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109169	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111402	0.83[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs7127484	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs792239	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7927299	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs890258	1.00[MEX][hapmap];0.83[TSI][hapmap]
rs981981	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs981982	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36474800-36511000	Weak transcription	Fetal Kidney	kidney
2	chr11:36478800-36512200	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:36489200-36510600	Weak transcription	Colonic Mucosa	Colon
4	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
5	chr11:36491000-36511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:36499200-36512800	Weak transcription	Fetal Lung	lung
7	chr11:36500800-36522400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:36502200-36523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:36504400-36510600	Weak transcription	K562	blood
10	chr11:36504400-36511000	Weak transcription	Hela-S3	cervix
11	chr11:36504400-36524000	Weak transcription	Stomach Mucosa	stomach
12	chr11:36504800-36514000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:36504800-36517400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:36504800-36517600	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:36504800-36521200	Strong transcription	Fetal Intestine Large	intestine
16	chr11:36504800-36521600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:36504800-36521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:36504800-36522800	Strong transcription	Liver	Liver
19	chr11:36504800-36523000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:36505000-36512200	Strong transcription	Fetal Intestine Small	intestine
21	chr11:36505200-36511200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:36505200-36513200	Weak transcription	Fetal Heart	heart
23	chr11:36505200-36516400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:36505200-36521600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:36505400-36520800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:36505400-36521600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr11:36505400-36523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:36505600-36510600	Weak transcription	HepG2	liver
29	chr11:36505600-36514600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:36505600-36517200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr11:36505800-36517200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:36505800-36520800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:36506000-36511600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:36506000-36520400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:36506000-36520800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:36506400-36512400	Strong transcription	Fetal Stomach	stomach
37	chr11:36506400-36517600	Strong transcription	HSMMtube	muscle
38	chr11:36506600-36511200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:36506600-36514200	Strong transcription	NHEK	skin
40	chr11:36506600-36523200	Strong transcription	Placenta	Placenta
41	chr11:36506800-36514000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:36506800-36515000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:36507200-36511200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:36507200-36511200	Weak transcription	Ovary	ovary
45	chr11:36507200-36511200	Weak transcription	Small Intestine	intestine
46	chr11:36507200-36513400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:36507400-36511200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:36507400-36511200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:36507400-36511200	Weak transcription	Brain Substantia Nigra	brain
50	chr11:36507400-36524800	Weak transcription	Psoas Muscle	Psoas

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