Variant report

Variant	rs11562701
Chromosome Location	chr8:119031021-119031022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119015841..119017947-chr8:119030340..119032884,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11562672	1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11562700	1.00[AMR][1000 genomes]
rs11562729	1.00[AMR][1000 genomes]
rs11562732	1.00[AMR][1000 genomes]
rs11562734	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562767	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476463	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505283	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984750	1.00[AMR][1000 genomes]
rs6997044	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119018000-119033200	Weak transcription	Spleen	Spleen
2	chr8:119021800-119036000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:119024200-119038000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:119024600-119031600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:119024600-119033800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:119024800-119031600	Weak transcription	Psoas Muscle	Psoas
7	chr8:119024800-119036000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:119024800-119036600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:119024800-119037000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:119025000-119038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:119026000-119031800	Weak transcription	Thymus	Thymus
12	chr8:119026200-119034400	Enhancers	Small Intestine	intestine
13	chr8:119027000-119034400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:119028600-119032400	Enhancers	HSMM	muscle
15	chr8:119028800-119032200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:119028800-119032400	Flanking Active TSS	NHEK	skin
17	chr8:119029000-119032000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:119029000-119032200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:119029000-119036000	Weak transcription	Right Ventricle	heart
20	chr8:119029000-119038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:119029200-119031600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:119029200-119031600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:119029200-119034400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:119029200-119036000	Weak transcription	Esophagus	oesophagus
25	chr8:119029400-119032000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:119029400-119032000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:119029400-119032000	Enhancers	Stomach Mucosa	stomach
28	chr8:119029400-119032000	Enhancers	HepG2	liver
29	chr8:119029600-119031800	Enhancers	Fetal Kidney	kidney
30	chr8:119029600-119032400	Enhancers	HSMMtube	muscle
31	chr8:119029600-119033600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:119029600-119034600	Enhancers	Fetal Intestine Large	intestine
33	chr8:119029800-119031600	Active TSS	Aorta	Aorta
34	chr8:119029800-119032200	Enhancers	Colon Smooth Muscle	Colon
35	chr8:119029800-119034600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:119029800-119034600	Enhancers	Liver	Liver
37	chr8:119030000-119031400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:119030000-119031400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr8:119030000-119032000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:119030000-119032200	Enhancers	Adipose Nuclei	Adipose
41	chr8:119030000-119036000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:119030000-119040600	Enhancers	Fetal Intestine Small	intestine
43	chr8:119030200-119031200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:119030200-119031400	Enhancers	Brain Germinal Matrix	brain
45	chr8:119030200-119032000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:119030200-119032200	Flanking Active TSS	A549	lung
47	chr8:119030200-119035600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:119030200-119035600	Weak transcription	Left Ventricle	heart
49	chr8:119030200-119037400	Weak transcription	Pancreas	Pancrea
50	chr8:119030400-119031400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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