Variant report

Variant	rs505296
Chromosome Location	chr11:36510618-36510619
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: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1515062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2173394	1.00[EUR][1000 genomes]
rs230485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2458930	0.94[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2673017	1.00[EUR][1000 genomes]
rs2673018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331430	0.80[AFR][1000 genomes]
rs331431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331449	0.85[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs331451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331456	0.85[GIH][hapmap];1.00[TSI][hapmap]
rs331458	0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331461	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331475	1.00[AMR][1000 genomes]
rs34340782	1.00[EUR][1000 genomes]
rs34574486	1.00[EUR][1000 genomes]
rs34608958	1.00[EUR][1000 genomes]
rs35691292	0.85[GIH][hapmap]
rs4756327	0.83[GIH][hapmap];1.00[TSI][hapmap]
rs496289	1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs510479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs520074	1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60287310	1.00[EUR][1000 genomes]
rs61475582	1.00[EUR][1000 genomes]
rs6484862	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692743	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs693068	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109588	1.00[EUR][1000 genomes]
rs7125448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs962353	0.85[GIH][hapmap];1.00[TSI][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	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	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
4	chr11:36491000-36511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:36499200-36512800	Weak transcription	Fetal Lung	lung
6	chr11:36500800-36522400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:36502200-36523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:36504400-36511000	Weak transcription	Hela-S3	cervix
9	chr11:36504400-36524000	Weak transcription	Stomach Mucosa	stomach
10	chr11:36504800-36514000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:36504800-36517400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:36504800-36517600	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:36504800-36521200	Strong transcription	Fetal Intestine Large	intestine
14	chr11:36504800-36521600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:36504800-36521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:36504800-36522800	Strong transcription	Liver	Liver
17	chr11:36504800-36523000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:36505000-36512200	Strong transcription	Fetal Intestine Small	intestine
19	chr11:36505200-36511200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:36505200-36513200	Weak transcription	Fetal Heart	heart
21	chr11:36505200-36516400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:36505200-36521600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:36505400-36520800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:36505400-36521600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:36505400-36523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:36505600-36514600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:36505600-36517200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:36505800-36517200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:36505800-36520800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:36506000-36511600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:36506000-36520400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:36506000-36520800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:36506400-36512400	Strong transcription	Fetal Stomach	stomach
34	chr11:36506400-36517600	Strong transcription	HSMMtube	muscle
35	chr11:36506600-36511200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:36506600-36514200	Strong transcription	NHEK	skin
37	chr11:36506600-36523200	Strong transcription	Placenta	Placenta
38	chr11:36506800-36514000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:36506800-36515000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr11:36507200-36511200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:36507200-36511200	Weak transcription	Ovary	ovary
42	chr11:36507200-36511200	Weak transcription	Small Intestine	intestine
43	chr11:36507200-36513400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:36507400-36511200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:36507400-36511200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:36507400-36511200	Weak transcription	Brain Substantia Nigra	brain
47	chr11:36507400-36524800	Weak transcription	Psoas Muscle	Psoas
48	chr11:36507600-36521800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:36507800-36511200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:36507800-36511200	Weak transcription	Gastric	stomach

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