Variant report

Variant	rs2204508
Chromosome Location	chr11:36217884-36217885
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36215356..36218000-chr11:36222542..36225082,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10466393	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11033468	1.00[JPT][hapmap]
rs1105373	1.00[JPT][hapmap]
rs17813639	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34758421	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4450151	1.00[JPT][hapmap]
rs4755442	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4755443	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4756288	1.00[JPT][hapmap]
rs4756289	1.00[JPT][hapmap]
rs4756295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756296	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6484826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111128	1.00[JPT][hapmap]
rs7481996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7931368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931896	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7943733	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7946514	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36184400-36220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:36200400-36223800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:36203400-36218000	Weak transcription	NHLF	lung
4	chr11:36206800-36219400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:36207800-36222800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:36208400-36220000	Weak transcription	Esophagus	oesophagus
7	chr11:36208600-36219000	Weak transcription	HSMM	muscle
8	chr11:36208600-36219400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:36208600-36220000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:36208600-36220000	Weak transcription	NHEK	skin
11	chr11:36208600-36231600	Weak transcription	HMEC	breast
12	chr11:36209600-36219200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:36211800-36219000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:36212400-36225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:36212600-36219000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:36214600-36219400	Weak transcription	Fetal Intestine Small	intestine
17	chr11:36214800-36219600	Weak transcription	Fetal Intestine Large	intestine
18	chr11:36214800-36219600	Weak transcription	HSMMtube	muscle
19	chr11:36215000-36219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:36215000-36219600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:36215200-36219000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:36215400-36218400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:36215800-36219600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:36216000-36219200	Enhancers	Fetal Lung	lung
25	chr11:36216000-36219200	Enhancers	Fetal Muscle Leg	muscle
26	chr11:36216400-36218000	Enhancers	Brain Anterior Caudate	brain
27	chr11:36216600-36218800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr11:36216600-36219200	Enhancers	Fetal Stomach	stomach
29	chr11:36216600-36231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:36216800-36218200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:36216800-36218600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:36216800-36218800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:36216800-36219200	Enhancers	Brain Substantia Nigra	brain
34	chr11:36216800-36219200	Enhancers	Fetal Brain Female	brain
35	chr11:36217000-36218600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:36217000-36219000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:36217000-36219000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:36217200-36218000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:36217200-36218400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:36217200-36218400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:36217200-36218400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:36217200-36218600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:36217200-36218600	Enhancers	Brain Angular Gyrus	brain
44	chr11:36217200-36218600	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:36217200-36218800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:36217200-36219200	Enhancers	Fetal Brain Male	brain
47	chr11:36217400-36218200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:36217400-36218200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:36217400-36218400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:36217400-36218400	Enhancers	HUES64 Cell Line	embryonic stem cell

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