Variant report

Variant	rs7557063
Chromosome Location	chr2:11738378-11738379
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	chr2:11737451..11740720-chr2:11742097..11745716,3	MCF-7	breast:
2	chr2:11734732..11736294-chr2:11737996..11740139,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11681838	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11688915	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11689869	0.90[ASN][1000 genomes]
rs13431704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13432243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1435547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865575	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36030386	0.95[ASN][1000 genomes]
rs4669756	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62118318	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6736604	0.95[ASN][1000 genomes]
rs6744817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7559835	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7576944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7596162	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs880858	0.95[ASN][1000 genomes]
rs9287733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11694800-11755200	Weak transcription	Gastric	stomach
3	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
4	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
5	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:11719400-11750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:11723000-11740400	Weak transcription	Liver	Liver
9	chr2:11723400-11740000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:11723600-11738600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:11724400-11738600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:11724600-11741000	Weak transcription	Brain Anterior Caudate	brain
14	chr2:11724600-11766800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11724600-11766800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:11724800-11749600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:11725000-11743800	Weak transcription	Fetal Kidney	kidney
18	chr2:11725400-11742400	Strong transcription	Ovary	ovary
19	chr2:11725600-11766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:11733400-11750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:11733600-11750600	Weak transcription	Pancreas	Pancrea
22	chr2:11733600-11784000	Strong transcription	HepG2	liver
23	chr2:11735200-11738400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:11735200-11744600	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr2:11735200-11746400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:11735600-11745000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:11735600-11746600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:11736000-11743000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:11736200-11738400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:11736200-11738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:11736200-11741000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:11736200-11765000	Weak transcription	Fetal Lung	lung
33	chr2:11736400-11740000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:11736400-11755400	Weak transcription	Brain Substantia Nigra	brain
35	chr2:11736600-11741000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:11736600-11750600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:11736800-11762800	Weak transcription	Fetal Heart	heart
38	chr2:11737000-11744600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:11737400-11739200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:11737400-11741600	Strong transcription	Brain Hippocampus Middle	brain
41	chr2:11737600-11742000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:11737600-11744400	Strong transcription	Fetal Stomach	stomach
43	chr2:11737800-11738800	Enhancers	Psoas Muscle	Psoas
44	chr2:11737800-11738800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr2:11737800-11739000	Enhancers	Hela-S3	cervix
46	chr2:11737800-11740200	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr2:11737800-11745000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:11737800-11746400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:11738000-11739000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:11738000-11739000	Strong transcription	Pancreatic Islets	Pancreatic Islet

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