Variant report

Variant	rs11611801
Chromosome Location	chr12:49814902-49814903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49659146..49661010-chr12:49813234..49815442,2	K562	blood:
2	chr12:49813994..49815760-chr12:49818302..49819938,2	K562	blood:
3	chr12:49813368..49814980-chr12:49815909..49817476,2	K562	blood:
4	chr12:49809234..49812478-chr12:49813344..49815493,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11608534	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11609027	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11609068	0.88[EUR][1000 genomes]
rs11609087	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11609549	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11609699	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11610501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11610835	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11611624	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11612426	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11613171	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11613183	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11613509	1.00[CEU][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11613622	0.89[EUR][1000 genomes]
rs11613908	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11614120	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11614479	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11614854	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11615299	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11615316	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11615383	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11829969	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11830595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830747	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11831792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834236	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11837194	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11838223	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12319484	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2091801	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55712069	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56746050	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56784507	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58082501	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60827238	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61638922	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7296220	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7296303	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7300276	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7301723	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7304456	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7309610	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7488206	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7488270	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49764200-49840200	Weak transcription	Fetal Lung	lung
2	chr12:49764400-49822200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:49766600-49822200	Weak transcription	NH-A	brain
4	chr12:49768400-49819200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:49783600-49816400	Weak transcription	Left Ventricle	heart
6	chr12:49788000-49822600	Weak transcription	HUVEC	blood vessel
7	chr12:49791400-49819200	Weak transcription	Osteobl	bone
8	chr12:49791800-49817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:49792800-49819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:49792800-49822000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:49793000-49818600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:49798000-49820800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
14	chr12:49798600-49818400	Weak transcription	Fetal Stomach	stomach
15	chr12:49798600-49821800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:49798600-49822600	Weak transcription	Fetal Thymus	thymus
17	chr12:49798600-49840000	Weak transcription	Hela-S3	cervix
18	chr12:49799400-49819000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:49807200-49817600	Enhancers	HepG2	liver
20	chr12:49807400-49818800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:49807800-49819600	Weak transcription	HMEC	breast
22	chr12:49807800-49822200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:49807800-49822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:49807800-49822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:49808200-49822400	Weak transcription	NHEK	skin
26	chr12:49809200-49816400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:49809800-49818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:49810200-49819800	Weak transcription	Dnd41	blood
29	chr12:49810800-49831400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:49812200-49822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:49812600-49829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:49812600-49849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:49812800-49816400	Enhancers	Fetal Intestine Small	intestine
34	chr12:49812800-49820600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:49812800-49822600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:49813000-49818600	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:49813000-49822000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:49813000-49822000	Weak transcription	HSMM	muscle
39	chr12:49813000-49822600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:49813400-49822600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:49813600-49815400	Weak transcription	A549	lung
42	chr12:49813600-49816200	Enhancers	Duodenum Mucosa	Duodenum
43	chr12:49813600-49822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:49813800-49822200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:49814000-49815600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:49814000-49819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:49814000-49822600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:49814400-49817000	Enhancers	Fetal Intestine Large	intestine
49	chr12:49814600-49815000	Enhancers	Small Intestine	intestine
50	chr12:49814600-49815200	Enhancers	Sigmoid Colon	Sigmoid Colon

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