Variant report

Variant	rs2631604
Chromosome Location	chr7:129494710-129494711
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129493067..129496024-chr7:129500943..129503078,3	K562	blood:
2	chr7:129490885..129492602-chr7:129494075..129495817,2	MCF-7	breast:
3	chr7:129493067..129496024-chr7:129500943..129503078,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1725079	1.00[EUR][1000 genomes]
rs2255639	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs2631609	0.91[AFR][1000 genomes]
rs2693722	1.00[GIH][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2693740	1.00[EUR][1000 genomes]
rs2693741	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693742	1.00[EUR][1000 genomes]
rs2693743	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693747	1.00[GIH][hapmap];0.89[MKK][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2693748	1.00[EUR][1000 genomes]
rs2708641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727459	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727461	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727465	1.00[EUR][1000 genomes]
rs2727467	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs2727476	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs2727480	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727481	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727485	1.00[EUR][1000 genomes]
rs2727494	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727495	1.00[EUR][1000 genomes]
rs2727501	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727506	0.81[AFR][1000 genomes]
rs73469781	1.00[EUR][1000 genomes]
rs73469795	1.00[EUR][1000 genomes]
rs7804954	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
2	chr7:129477800-129495400	Weak transcription	HepG2	liver
3	chr7:129477800-129498400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:129479200-129495600	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
6	chr7:129481400-129499800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:129481400-129510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:129484000-129497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:129484200-129495400	Weak transcription	Fetal Stomach	stomach
10	chr7:129484200-129498600	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:129484200-129503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:129485400-129498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:129485400-129503800	Weak transcription	Lung	lung
14	chr7:129485600-129495400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:129485600-129495400	Weak transcription	Fetal Thymus	thymus
16	chr7:129485600-129496000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:129485600-129502400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:129486000-129495800	Weak transcription	GM12878-XiMat	blood
19	chr7:129486400-129502400	Weak transcription	Esophagus	oesophagus
20	chr7:129486400-129505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:129486600-129501400	Weak transcription	Right Ventricle	heart
22	chr7:129486800-129499200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:129487200-129502400	Weak transcription	Ovary	ovary
24	chr7:129487800-129495600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:129488200-129499600	Weak transcription	Left Ventricle	heart
26	chr7:129488600-129496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:129488600-129496400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:129490600-129495800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:129490800-129496000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr7:129491600-129510000	Weak transcription	Fetal Intestine Large	intestine
31	chr7:129491800-129495200	Weak transcription	Brain Anterior Caudate	brain
32	chr7:129491800-129502000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:129492000-129497000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:129492000-129498800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:129492000-129499400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:129492000-129501200	Weak transcription	Stomach Mucosa	stomach
37	chr7:129492000-129509200	Weak transcription	Fetal Intestine Small	intestine
38	chr7:129492200-129496800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:129492200-129499200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:129492200-129501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:129492200-129502400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:129492600-129495800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:129492600-129502400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:129492800-129494800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:129492800-129495200	Enhancers	Colon Smooth Muscle	Colon
46	chr7:129492800-129495400	Enhancers	Adipose Nuclei	Adipose
47	chr7:129492800-129495800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:129492800-129496400	Enhancers	Fetal Brain Female	brain
49	chr7:129492800-129496800	Enhancers	NHLF	lung
50	chr7:129493000-129494800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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