Variant report

Variant	rs230485
Chromosome Location	chr11:36481912-36481913
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	chr11:36477306..36479015-chr11:36479369..36482198,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1515062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2173394	1.00[EUR][1000 genomes]
rs2458930	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]
rs331431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331438	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331449	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]
rs331458	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331473	0.91[YRI][hapmap];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]
rs496289	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs510479	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs520074	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60287310	1.00[EUR][1000 genomes]
rs6484862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs693068	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]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36470600-36482800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:36471800-36506800	Weak transcription	Gastric	stomach
3	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
4	chr11:36473000-36488000	Weak transcription	Liver	Liver
5	chr11:36473200-36505600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:36474200-36486800	Weak transcription	Small Intestine	intestine
7	chr11:36474400-36483800	Weak transcription	Aorta	Aorta
8	chr11:36474800-36511000	Weak transcription	Fetal Kidney	kidney
9	chr11:36475200-36486000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:36475400-36482200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:36475800-36482000	Weak transcription	Thymus	Thymus
12	chr11:36476400-36485000	Strong transcription	Spleen	Spleen
13	chr11:36477600-36482000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:36477800-36484600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:36477800-36485800	Strong transcription	Fetal Intestine Small	intestine
16	chr11:36477800-36488200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:36478000-36482000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:36478000-36485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:36478000-36485800	Strong transcription	Fetal Intestine Large	intestine
20	chr11:36478000-36487400	Weak transcription	Esophagus	oesophagus
21	chr11:36478000-36488400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:36478000-36488800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:36478000-36489400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:36478200-36489800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:36478200-36508800	Weak transcription	Fetal Brain Female	brain
26	chr11:36478400-36484400	Weak transcription	NHEK	skin
27	chr11:36478400-36485600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:36478400-36485600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr11:36478400-36486000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr11:36478400-36488000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:36478400-36491600	Weak transcription	Brain Angular Gyrus	brain
32	chr11:36478600-36483400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:36478600-36483600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:36478600-36484600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:36478600-36484600	Weak transcription	HSMM	muscle
36	chr11:36478600-36485200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:36478600-36485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:36478600-36487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:36478600-36488800	Weak transcription	HMEC	breast
40	chr11:36478600-36490800	Weak transcription	Right Atrium	heart
41	chr11:36478600-36506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:36478800-36482400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:36478800-36483800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:36478800-36484000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:36478800-36484800	Weak transcription	NHLF	lung
46	chr11:36478800-36485000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:36478800-36487200	Weak transcription	Placenta	Placenta
48	chr11:36478800-36487400	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:36478800-36488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:36478800-36489400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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