Variant report

Variant	rs7009612
Chromosome Location	chr8:103788755-103788756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103786553..103789448-chr8:103790120..103793289,3	K562	blood:
2	chr8:103786553..103789448-chr8:103790011..103792533,3	K562	blood:
3	chr8:103664425..103672321-chr8:103786823..103809844,55	MCF-7	breast:
4	chr8:103665334..103669593-chr8:103787545..103791450,4	K562	blood:
5	chr8:103786719..103790690-chr8:103792046..103795484,6	MCF-7	breast:
6	chr8:103656072..103671156-chr8:103783158..103810200,133	MCF-7	breast:
7	chr8:103785972..103788764-chr8:103800319..103802177,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10100732	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs28608974	0.90[ASN][1000 genomes]
rs62522567	0.84[EUR][1000 genomes]
rs62524041	0.93[ASN][1000 genomes]
rs72685182	0.93[ASN][1000 genomes]
rs72685183	0.95[ASN][1000 genomes]
rs7841186	0.89[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv519814	chr8:103778809-103806914	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103776600-103790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:103780400-103791600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103780600-103789000	Weak transcription	Gastric	stomach
4	chr8:103780600-103794800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:103781200-103788800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:103781200-103788800	Weak transcription	Esophagus	oesophagus
7	chr8:103781600-103793800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:103782600-103789000	Weak transcription	Spleen	Spleen
9	chr8:103782800-103794600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:103783000-103793800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:103783600-103788800	Weak transcription	Pancreas	Pancrea
12	chr8:103783800-103789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:103785400-103789400	Enhancers	Fetal Intestine Small	intestine
14	chr8:103785600-103789200	Enhancers	Fetal Intestine Large	intestine
15	chr8:103785600-103789200	Enhancers	K562	blood
16	chr8:103786200-103788800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:103786400-103790400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:103786800-103793800	Weak transcription	Aorta	Aorta
19	chr8:103786800-103793800	Weak transcription	Right Ventricle	heart
20	chr8:103786800-103801000	Weak transcription	Small Intestine	intestine
21	chr8:103787000-103789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:103787000-103794200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:103787200-103789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:103787200-103789600	Enhancers	Liver	Liver
25	chr8:103787200-103799800	Weak transcription	HMEC	breast
26	chr8:103787400-103793400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:103787600-103788800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:103787600-103793800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:103787800-103789400	Enhancers	Fetal Thymus	thymus
30	chr8:103787800-103789600	Enhancers	A549	lung
31	chr8:103787800-103795000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:103788000-103789600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:103788200-103789400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr8:103788400-103788800	Enhancers	Duodenum Mucosa	Duodenum
35	chr8:103788400-103789000	Enhancers	Primary B cells from cord blood	blood
36	chr8:103788400-103789000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr8:103788400-103789200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:103788400-103789200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr8:103788400-103789400	Enhancers	Psoas Muscle	Psoas
40	chr8:103788400-103789400	Flanking Active TSS	HepG2	liver
41	chr8:103788400-103789600	Enhancers	Adipose Nuclei	Adipose
42	chr8:103788400-103789600	Enhancers	Fetal Lung	lung
43	chr8:103788400-103789600	Enhancers	Left Ventricle	heart
44	chr8:103788400-103790400	Enhancers	Fetal Muscle Leg	muscle
45	chr8:103788600-103789200	Enhancers	Lung	lung
46	chr8:103788600-103789400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:103788600-103789400	Enhancers	Colon Smooth Muscle	Colon
48	chr8:103788600-103789400	Enhancers	Fetal Heart	heart
49	chr8:103788600-103789400	Enhancers	Placenta	Placenta
50	chr8:103788600-103789400	Enhancers	Fetal Stomach	stomach

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