Variant report

Variant	rs72950073
Chromosome Location	chr11:36401922-36401923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36400346..36402601-chr11:36405590..36407328,2	MCF-7	breast:

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];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421636	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[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];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72950084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950090	0.88[AMR][1000 genomes];0.93[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36397600-36402000	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:36397600-36402200	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr11:36399400-36402200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
4	chr11:36399800-36403200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:36399800-36406800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:36399800-36411800	Weak transcription	HSMM	muscle
7	chr11:36400000-36402600	Weak transcription	Ovary	ovary
8	chr11:36400000-36402800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:36400000-36402800	Enhancers	Brain Substantia Nigra	brain
10	chr11:36400000-36403400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:36400000-36403600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:36400000-36403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:36400000-36403800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:36400000-36403800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:36400000-36403800	Weak transcription	Spleen	Spleen
16	chr11:36400000-36403800	Weak transcription	HMEC	breast
17	chr11:36400000-36404200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:36400000-36408000	Weak transcription	Thymus	Thymus
19	chr11:36400000-36409400	Weak transcription	Adipose Nuclei	Adipose
20	chr11:36400000-36409800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:36400000-36412400	Weak transcription	Osteobl	bone
22	chr11:36400000-36415600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
24	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
25	chr11:36400200-36402000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:36400200-36403600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:36400200-36406800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:36400600-36402000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:36400600-36403000	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr11:36400600-36403800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:36400600-36404600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:36400600-36407200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:36400800-36403000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:36400800-36403200	Weak transcription	Brain Anterior Caudate	brain
37	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:36401000-36402200	Genic enhancers	Fetal Intestine Large	intestine
39	chr11:36401000-36403000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:36401000-36404000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:36401000-36420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:36401200-36402000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr11:36401200-36402200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
44	chr11:36401200-36403200	Enhancers	Small Intestine	intestine
45	chr11:36401200-36408000	Weak transcription	Liver	Liver
46	chr11:36401400-36402000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:36401400-36402000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr11:36401400-36402000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:36401400-36402200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:36401400-36402200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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