Variant report

Variant	rs11600436
Chromosome Location	chr11:120419868-120419869
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	chr11:120381768..120382394-chr11:120418781..120419873,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11599940	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11601826	0.84[AMR][1000 genomes]
rs11602075	0.80[AMR][1000 genomes]
rs11602493	0.83[EUR][1000 genomes]
rs11603180	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11824600	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11827023	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1573789	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17311310	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17311317	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17311324	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3892497	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4297478	0.83[AMR][1000 genomes]
rs4500499	0.82[EUR][1000 genomes]
rs4561221	0.84[AMR][1000 genomes]
rs4936521	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4938818	0.82[EUR][1000 genomes]
rs61900897	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61900900	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73000621	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1036388	chr11:120395104-120427135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1052932	chr11:120406628-120442955	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120415800-120420800	Enhancers	Fetal Lung	lung
2	chr11:120416400-120421600	Enhancers	Ovary	ovary
3	chr11:120416400-120422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:120416600-120420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:120416600-120421000	Enhancers	NHLF	lung
6	chr11:120416600-120421400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:120416600-120422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:120416800-120426200	Enhancers	Placenta	Placenta
9	chr11:120417200-120421000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:120417200-120421600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:120417200-120422200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:120417200-120422200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:120417400-120421000	Enhancers	Brain Cingulate Gyrus	brain
14	chr11:120417400-120425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:120417600-120420400	Enhancers	Brain Anterior Caudate	brain
16	chr11:120417600-120420600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:120417600-120425600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:120417800-120420000	Enhancers	Brain Angular Gyrus	brain
19	chr11:120417800-120420600	Enhancers	Fetal Intestine Large	intestine
20	chr11:120418000-120420600	Enhancers	Fetal Muscle Leg	muscle
21	chr11:120418000-120420800	Enhancers	HSMMtube	muscle
22	chr11:120418000-120424200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:120418400-120421000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:120418400-120421000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:120418600-120420400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr11:120418600-120422000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:120418800-120420400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:120418800-120420400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:120418800-120421400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:120418800-120421800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:120419000-120420800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr11:120419000-120421400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:120419200-120420000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:120419200-120420200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:120419200-120420800	Weak transcription	Fetal Kidney	kidney
36	chr11:120419200-120421000	Enhancers	Brain Hippocampus Middle	brain
37	chr11:120419200-120421800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:120419200-120423800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:120419200-120426000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:120419400-120420400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:120419400-120420400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:120419400-120420400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:120419400-120420600	Weak transcription	Brain Germinal Matrix	brain
44	chr11:120419400-120421400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:120419400-120423200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:120419600-120420000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:120419800-120420200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:120419800-120420800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:120419800-120420800	Weak transcription	Pancreas	Pancrea
50	chr11:120419800-120423000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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