Variant report

Variant	rs72950076
Chromosome Location	chr11:36404523-36404524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:36404240-36405053	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:36403619-36404578	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36393103..36395662-chr11:36402907..36405828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255186	TF binding region

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];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11608110	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12418784	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421636	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12421645	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72950073	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72950079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950084	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72950090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36399800-36406800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:36399800-36411800	Weak transcription	HSMM	muscle
3	chr11:36400000-36408000	Weak transcription	Thymus	Thymus
4	chr11:36400000-36409400	Weak transcription	Adipose Nuclei	Adipose
5	chr11:36400000-36409800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:36400000-36412400	Weak transcription	Osteobl	bone
7	chr11:36400000-36415600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
9	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
10	chr11:36400200-36406800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:36400600-36404600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:36400600-36407200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:36401000-36420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:36401200-36408000	Weak transcription	Liver	Liver
18	chr11:36401400-36409000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:36401600-36405000	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:36401600-36406800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:36401800-36409400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:36402000-36404800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:36402000-36410000	Weak transcription	Placenta	Placenta
24	chr11:36402000-36424200	Weak transcription	Left Ventricle	heart
25	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:36402200-36405200	Strong transcription	Fetal Intestine Large	intestine
27	chr11:36402200-36405600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:36402800-36406000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:36402800-36406400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr11:36402800-36406600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:36403000-36405600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:36403000-36406000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:36403000-36406600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:36403000-36407600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:36403000-36409800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:36403000-36415400	Weak transcription	NHEK	skin
37	chr11:36403000-36417800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:36403000-36438200	Weak transcription	Ovary	ovary
39	chr11:36403200-36404600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:36403200-36404600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr11:36403200-36405200	Enhancers	Brain Hippocampus Middle	brain
42	chr11:36403200-36405200	Strong transcription	Fetal Intestine Small	intestine
43	chr11:36403200-36406800	Weak transcription	Small Intestine	intestine
44	chr11:36403200-36409200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr11:36403400-36406000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:36403600-36404600	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr11:36403600-36405000	Genic enhancers	Primary T cells fromperipheralblood	blood
48	chr11:36403800-36404600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:36403800-36404600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:36403800-36404800	Enhancers	Brain Angular Gyrus	brain

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