Variant report

Variant	rs331433
Chromosome Location	chr11:36488651-36488652
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	chr11:36484356..36487106-chr11:36488282..36491848,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs331434	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331435	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs331436	0.96[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5030411	0.92[CEU][hapmap]
rs5030487	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs566797	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs570676	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6484858	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7106522	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7122638	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7128283	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7931252	0.88[CEU][hapmap]

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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36471800-36506800	Weak transcription	Gastric	stomach
2	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
3	chr11:36473200-36505600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:36474800-36511000	Weak transcription	Fetal Kidney	kidney
5	chr11:36478000-36488800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:36478000-36489400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:36478200-36489800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:36478200-36508800	Weak transcription	Fetal Brain Female	brain
9	chr11:36478400-36491600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:36478600-36488800	Weak transcription	HMEC	breast
11	chr11:36478600-36490800	Weak transcription	Right Atrium	heart
12	chr11:36478600-36506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:36478800-36488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:36478800-36489400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:36478800-36489400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:36478800-36491200	Weak transcription	NHDF-Ad	bronchial
17	chr11:36478800-36491600	Weak transcription	Brain Anterior Caudate	brain
18	chr11:36478800-36492200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:36478800-36505400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:36478800-36510400	Weak transcription	Right Ventricle	heart
21	chr11:36478800-36512200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:36480600-36490800	Weak transcription	Lung	lung
23	chr11:36481800-36508600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:36482400-36489000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:36482600-36489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:36482800-36489600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:36482800-36491200	Weak transcription	Fetal Lung	lung
28	chr11:36484400-36489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:36484400-36492200	Weak transcription	Aorta	Aorta
30	chr11:36484400-36506800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:36484600-36489200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:36484800-36491400	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:36484800-36505600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:36485000-36499400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:36485400-36489400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr11:36485600-36489000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:36485600-36489000	Weak transcription	NHEK	skin
38	chr11:36485600-36491600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:36485600-36501400	Weak transcription	Ovary	ovary
40	chr11:36485600-36504800	Weak transcription	Fetal Stomach	stomach
41	chr11:36485800-36489600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:36485800-36490600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:36485800-36490800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:36485800-36491200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:36485800-36491400	Weak transcription	Adipose Nuclei	Adipose
46	chr11:36485800-36506600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:36486000-36489000	Weak transcription	HSMM	muscle
48	chr11:36486000-36491200	Weak transcription	HSMMtube	muscle
49	chr11:36486000-36505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:36486600-36489000	Strong transcription	Primary hematopoietic stem cells	blood

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