Variant report

Variant	rs72950090
Chromosome Location	chr11:36408567-36408568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10836544	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11608110	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12418784	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421636	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12421645	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72950073	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72950076	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950084	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36399800-36411800	Weak transcription	HSMM	muscle
2	chr11:36400000-36409400	Weak transcription	Adipose Nuclei	Adipose
3	chr11:36400000-36409800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:36400000-36412400	Weak transcription	Osteobl	bone
5	chr11:36400000-36415600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
7	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
8	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:36401000-36420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:36401400-36409000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:36401800-36409400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:36402000-36410000	Weak transcription	Placenta	Placenta
15	chr11:36402000-36424200	Weak transcription	Left Ventricle	heart
16	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:36403000-36409800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:36403000-36415400	Weak transcription	NHEK	skin
19	chr11:36403000-36417800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:36403000-36438200	Weak transcription	Ovary	ovary
21	chr11:36403200-36409200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:36404200-36415400	Weak transcription	Colonic Mucosa	Colon
23	chr11:36404400-36409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:36404400-36409200	Weak transcription	Brain Anterior Caudate	brain
25	chr11:36404400-36409400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:36404400-36409800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:36404600-36415400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:36405000-36417800	Weak transcription	HMEC	breast
29	chr11:36406000-36408800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:36406200-36410000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:36406400-36410200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:36406600-36408800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:36406600-36409200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:36406600-36409200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:36406800-36411000	Enhancers	Fetal Lung	lung
36	chr11:36406800-36415400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:36407000-36411000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:36407200-36412000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:36407200-36412000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:36407400-36408800	Strong transcription	Fetal Intestine Large	intestine
42	chr11:36407400-36411000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:36407400-36411800	Weak transcription	GM12878-XiMat	blood
44	chr11:36407400-36412200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:36407400-36412400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:36407400-36412400	Weak transcription	Brain Angular Gyrus	brain
47	chr11:36407400-36415400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:36407400-36415600	Weak transcription	NH-A	brain
49	chr11:36407400-36417600	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:36407400-36425800	Weak transcription	Small Intestine	intestine

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