Variant report

Variant	rs776951
Chromosome Location	chr8:107688733-107688734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107677870..107679876-chr8:107686793..107689768,2	MCF-7	breast:
2	chr8:107675484..107677313-chr8:107687976..107690913,2	K562	blood:
3	chr8:107686163..107688960-chr8:107711945..107714088,2	K562	blood:
4	chr8:107667927..107672716-chr8:107687873..107691651,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164830	Chromatin interaction
ENSG00000253582	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1580289	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1601249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681879	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1681886	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs1681904	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1681905	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1784469	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1784472	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1784473	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1784480	0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs1784492	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1784494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2126581	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2282509	0.81[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2627788	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2627790	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs725906	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776933	1.00[CEU][hapmap];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]
rs776934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776939	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs776941	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776944	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776946	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs776948	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776949	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs776950	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776954	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776960	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs776961	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776963	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776965	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1799660	chr8:107679505-107689755	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107671200-107697200	Weak transcription	HSMM	muscle
2	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
3	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
6	chr8:107674400-107696000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:107676200-107697400	Weak transcription	Left Ventricle	heart
8	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
9	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
11	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
12	chr8:107681600-107696600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:107682200-107696600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:107683600-107692800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:107683800-107718800	Weak transcription	Hela-S3	cervix
16	chr8:107684800-107688800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:107686000-107697000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:107686000-107709200	Weak transcription	Gastric	stomach
19	chr8:107686200-107709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:107686400-107690000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:107686400-107691200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:107686400-107695200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:107686400-107695800	Weak transcription	Adipose Nuclei	Adipose
24	chr8:107686400-107696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:107686400-107697400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:107686400-107709000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:107686400-107709000	Weak transcription	Esophagus	oesophagus
28	chr8:107686400-107709000	Weak transcription	Spleen	Spleen
29	chr8:107686600-107696000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:107686600-107696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:107686600-107697400	Weak transcription	Fetal Intestine Large	intestine
32	chr8:107686600-107709000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:107686600-107709000	Weak transcription	Fetal Stomach	stomach
34	chr8:107686600-107711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:107686800-107696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:107687000-107696000	Weak transcription	Primary T cells from cord blood	blood
37	chr8:107687000-107696400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:107687200-107691200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr8:107687200-107695800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:107687200-107696000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:107687200-107697400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:107687200-107697400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:107687200-107707600	Weak transcription	Fetal Intestine Small	intestine
44	chr8:107687200-107709000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:107687600-107692600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr8:107687800-107692800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:107687800-107696400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:107688000-107689000	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr8:107688000-107713000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:107688200-107688800	Enhancers	Primary T helper cells PMA-I stimulated	--

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