Variant report

Variant	rs11562731
Chromosome Location	chr8:119047389-119047390
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	chr8:119039290..119041869-chr8:119044899..119048314,3	MCF-7	breast:
2	chr8:119046491..119049181-chr8:119099094..119101026,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SAMD12-5	chr8:119047209-119047786	NONHSAT128403

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11562661	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562723	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17476574	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476672	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17476812	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17505352	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505471	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17505506	0.93[AFR][1000 genomes]
rs58730454	0.93[AFR][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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119039200-119049000	Weak transcription	HUVEC	blood vessel
2	chr8:119040600-119052600	Weak transcription	Left Ventricle	heart
3	chr8:119041400-119049800	Enhancers	NHDF-Ad	bronchial
4	chr8:119041800-119049800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:119042400-119052000	Weak transcription	Adipose Nuclei	Adipose
6	chr8:119043000-119048400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:119043200-119048400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:119043200-119050800	Enhancers	HMEC	breast
9	chr8:119043400-119054400	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:119043400-119054400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:119044200-119049000	Weak transcription	HepG2	liver
12	chr8:119044400-119051200	Weak transcription	Fetal Kidney	kidney
13	chr8:119044600-119049400	Weak transcription	Liver	Liver
14	chr8:119044600-119056600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:119044800-119048400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:119044800-119053000	Weak transcription	Fetal Intestine Large	intestine
17	chr8:119045000-119047800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:119045800-119048000	Enhancers	Aorta	Aorta
19	chr8:119046200-119048600	Enhancers	A549	lung
20	chr8:119046400-119047400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:119046400-119047600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:119046400-119047600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:119046400-119047600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:119046400-119051200	Enhancers	NHLF	lung
25	chr8:119046600-119047400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:119046600-119047400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:119046600-119047400	Flanking Active TSS	NHEK	skin
28	chr8:119046600-119047600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr8:119046600-119047600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:119046600-119047600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:119046600-119047600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:119046600-119047600	Enhancers	Esophagus	oesophagus
33	chr8:119046600-119047600	Enhancers	Fetal Muscle Leg	muscle
34	chr8:119046600-119047600	Enhancers	Pancreas	Pancrea
35	chr8:119046600-119047600	Enhancers	Rectal Smooth Muscle	rectum
36	chr8:119046600-119048600	Enhancers	Fetal Lung	lung
37	chr8:119046600-119049200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:119046600-119049200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:119046600-119049400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:119046600-119049600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:119046600-119051000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:119046800-119047400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:119046800-119047600	Enhancers	Fetal Brain Female	brain
44	chr8:119046800-119047600	Enhancers	Lung	lung
45	chr8:119046800-119047600	Enhancers	Ovary	ovary
46	chr8:119046800-119047600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr8:119046800-119049600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:119047000-119047400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:119047000-119047400	Flanking Active TSS	NH-A	brain
50	chr8:119047000-119047600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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