Variant report

Variant	rs7777812
Chromosome Location	chr7:129380421-129380422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129380254..129382975-chr7:129414293..129416363,2	K562	blood:
2	chr7:129372539..129374355-chr7:129379814..129381363,2	MCF-7	breast:
3	chr7:129379929..129382728-chr7:129402086..129404067,3	K562	blood:
4	chr7:129374523..129378775-chr7:129380102..129386585,8	K562	blood:
5	chr7:129380203..129383393-chr7:129464866..129467037,3	MCF-7	breast:
6	chr7:129377464..129380811-chr7:129382602..129385925,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207691	Chromatin interaction
ENSG00000199158	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10224702	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10231985	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[ASN][1000 genomes]
rs10234904	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10238665	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10245818	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs10250715	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10258498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274906	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10276606	0.86[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap];0.84[ASN][1000 genomes]
rs10279678	0.81[ASN][1000 genomes]
rs11487138	0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs12670479	0.80[ASN][1000 genomes]
rs2402964	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28480046	0.95[ASN][1000 genomes]
rs55853524	0.81[ASN][1000 genomes]
rs56099086	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs57241718	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs58660194	0.80[ASN][1000 genomes]
rs60362426	0.82[ASN][1000 genomes]
rs62489268	0.81[ASN][1000 genomes]
rs6942490	0.87[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap]
rs6953077	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6955093	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6969098	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6976507	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs73159622	0.83[ASN][1000 genomes]
rs7459234	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs753947	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs7792411	0.84[ASN][1000 genomes]
rs7796553	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.92[TSI][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]
rs7797729	0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.94[YRI][hapmap];0.84[ASN][1000 genomes]
rs7800226	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813824	chr7:129379450-129424461	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
2	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129339200-129381800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:129348200-129392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:129351600-129394800	Weak transcription	Hela-S3	cervix
4	chr7:129355200-129380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:129357000-129392400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:129360600-129394800	Weak transcription	Small Intestine	intestine
7	chr7:129361800-129392400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:129362200-129380600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:129362200-129381200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:129362200-129387800	Strong transcription	Liver	Liver
11	chr7:129364200-129397600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:129365200-129388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:129366800-129399400	Weak transcription	Fetal Kidney	kidney
14	chr7:129369200-129380600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:129369600-129399400	Weak transcription	Fetal Brain Male	brain
16	chr7:129372000-129381000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:129372000-129383400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:129372000-129390000	Weak transcription	HMEC	breast
19	chr7:129372200-129381000	Weak transcription	HepG2	liver
20	chr7:129372200-129381600	Weak transcription	Fetal Brain Female	brain
21	chr7:129372200-129387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:129372200-129390000	Weak transcription	NHEK	skin
23	chr7:129372200-129397800	Weak transcription	NH-A	brain
24	chr7:129372400-129398800	Weak transcription	NHLF	lung
25	chr7:129373200-129381000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:129373400-129389200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:129373600-129381000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:129373600-129385600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:129373800-129385200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:129373800-129392000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr7:129374400-129380800	Weak transcription	Osteobl	bone
32	chr7:129374600-129394800	Weak transcription	Gastric	stomach
33	chr7:129374800-129386600	Weak transcription	Esophagus	oesophagus
34	chr7:129374800-129390000	Weak transcription	Colonic Mucosa	Colon
35	chr7:129375000-129381400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:129375000-129386600	Weak transcription	GM12878-XiMat	blood
37	chr7:129375000-129390000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:129375000-129391600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:129375000-129394800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:129375000-129395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:129375600-129381400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:129375800-129392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:129376400-129380600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:129376400-129381000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:129376600-129384600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:129376600-129393000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr7:129376600-129397200	Strong transcription	Dnd41	blood
48	chr7:129376800-129381200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:129376800-129383600	Enhancers	Fetal Heart	heart
50	chr7:129376800-129392200	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links