Variant report

Variant	rs11099063
Chromosome Location	chr4:131484684-131484685
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	chr4:131484407..131485248-chr4:131695339..131695944,3	MCF-7	breast:
2	chr4:131484502..131485054-chr4:131625879..131626789,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10857145	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11099064	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11723497	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730029	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731711	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734630	0.93[ASN][1000 genomes]
rs11734712	0.93[ASN][1000 genomes]
rs1531319	0.87[EUR][1000 genomes]
rs17481053	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469098	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643822	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs55664222	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55680610	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56023524	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62317037	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62317038	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62317039	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319782	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319783	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319784	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319785	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319786	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72682411	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72682412	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7657378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7662917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672122	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681380	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv595416	chr4:130998472-131834405	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1025539	chr4:131033276-131728033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv537253	chr4:131033276-131728033	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017784	chr4:131115020-131882664	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537254	chr4:131115020-131882664	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv879949	chr4:131167056-131771076	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1024734	chr4:131170043-131510150	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv537257	chr4:131170043-131510150	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1025787	chr4:131170243-131749075	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv537258	chr4:131170243-131749075	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1025689	chr4:131175545-131532766	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv537259	chr4:131175545-131532766	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131483800-131485000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:131484000-131485200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:131484200-131485200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:131484400-131484800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:131484400-131484800	Flanking Active TSS	HUVEC	blood vessel
6	chr4:131484400-131485000	Enhancers	Lung	lung
7	chr4:131484400-131485200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:131484400-131485200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:131484400-131485200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:131484400-131485200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:131484400-131485400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:131484400-131485400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:131484400-131485400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:131484400-131485800	Active TSS	Hela-S3	cervix
15	chr4:131484400-131486000	Active TSS	A549	lung
16	chr4:131484600-131484800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:131484600-131484800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:131484600-131484800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr4:131484600-131484800	Flanking Active TSS	Fetal Kidney	kidney
20	chr4:131484600-131484800	Flanking Active TSS	Fetal Lung	lung
21	chr4:131484600-131485000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:131484600-131485000	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr4:131484600-131485000	Active TSS	Colonic Mucosa	Colon
24	chr4:131484600-131485000	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr4:131484600-131485000	Active TSS	Fetal Muscle Leg	muscle
26	chr4:131484600-131485000	Enhancers	Placenta	Placenta
27	chr4:131484600-131485000	Active TSS	Stomach Smooth Muscle	stomach
28	chr4:131484600-131485000	Active TSS	HMEC	breast
29	chr4:131484600-131485000	Active TSS	HSMM	muscle
30	chr4:131484600-131485200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:131484600-131485200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:131484600-131485200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:131484600-131485200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:131484600-131485200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr4:131484600-131485200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:131484600-131485200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr4:131484600-131485200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:131484600-131485200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:131484600-131485200	Active TSS	Brain Cingulate Gyrus	brain
40	chr4:131484600-131485200	Active TSS	Duodenum Mucosa	Duodenum
41	chr4:131484600-131485200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr4:131484600-131485200	Active TSS	Fetal Intestine Small	intestine
43	chr4:131484600-131485200	Active TSS	Fetal Stomach	stomach
44	chr4:131484600-131485200	Active TSS	Pancreas	Pancrea
45	chr4:131484600-131485200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr4:131484600-131485200	Active TSS	Right Atrium	heart
47	chr4:131484600-131485200	Active TSS	NHLF	lung
48	chr4:131484600-131485200	Active TSS	Osteobl	bone
49	chr4:131484600-131485400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:131484600-131485400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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