Variant report

Variant	rs72950084
Chromosome Location	chr11:36407507-36407508
allele	C/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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421636	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72950073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950076	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72950079	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72950090	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36399800-36411800	Weak transcription	HSMM	muscle
2	chr11:36400000-36408000	Weak transcription	Thymus	Thymus
3	chr11:36400000-36409400	Weak transcription	Adipose Nuclei	Adipose
4	chr11:36400000-36409800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:36400000-36412400	Weak transcription	Osteobl	bone
6	chr11:36400000-36415600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
8	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
9	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:36401000-36420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:36401200-36408000	Weak transcription	Liver	Liver
14	chr11:36401400-36409000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:36401800-36409400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:36402000-36410000	Weak transcription	Placenta	Placenta
17	chr11:36402000-36424200	Weak transcription	Left Ventricle	heart
18	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:36403000-36407600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:36403000-36409800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:36403000-36415400	Weak transcription	NHEK	skin
22	chr11:36403000-36417800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:36403000-36438200	Weak transcription	Ovary	ovary
24	chr11:36403200-36409200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:36403800-36407600	Enhancers	Brain Substantia Nigra	brain
26	chr11:36404200-36415400	Weak transcription	Colonic Mucosa	Colon
27	chr11:36404400-36408000	Weak transcription	Spleen	Spleen
28	chr11:36404400-36409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:36404400-36409200	Weak transcription	Brain Anterior Caudate	brain
30	chr11:36404400-36409400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:36404400-36409800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:36404600-36415400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:36405000-36407600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:36405000-36408000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:36405000-36417800	Weak transcription	HMEC	breast
36	chr11:36405800-36407600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr11:36405800-36407800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr11:36405800-36408000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:36406000-36407600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:36406000-36408800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:36406200-36407600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:36406200-36410000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:36406400-36407600	Enhancers	Brain Hippocampus Middle	brain
44	chr11:36406400-36407600	Enhancers	Fetal Stomach	stomach
45	chr11:36406400-36408400	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr11:36406400-36408400	Genic enhancers	Rectal Mucosa Donor 31	rectum
47	chr11:36406400-36410200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:36406600-36407600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr11:36406600-36407600	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:36406600-36408400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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