Variant report

Variant	rs6988602
Chromosome Location	chr8:124788502-124788503
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	chr8:124787182..124791355-chr8:124797732..124801371,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10087476	0.91[ASN][1000 genomes]
rs10102074	0.80[ASN][1000 genomes]
rs10429369	0.92[EUR][1000 genomes]
rs10481071	0.91[ASN][1000 genomes]
rs10481072	0.91[ASN][1000 genomes]
rs10481073	0.91[ASN][1000 genomes]
rs10481151	0.91[ASN][1000 genomes]
rs11986791	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12541177	0.91[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12546891	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12549683	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12550235	0.92[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs13253599	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13261392	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13270541	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13275308	0.92[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs13278088	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13278192	0.93[EUR][1000 genomes]
rs1367829	0.85[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898871	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1835691	0.92[EUR][1000 genomes]
rs1966620	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2060112	0.87[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272683	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2385515	0.91[ASN][1000 genomes]
rs2385516	0.89[ASN][1000 genomes]
rs28495871	0.91[ASN][1000 genomes]
rs34253744	0.89[EUR][1000 genomes]
rs34354351	0.92[EUR][1000 genomes]
rs34850344	0.91[EUR][1000 genomes]
rs35420592	0.97[EUR][1000 genomes]
rs3911939	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4870867	0.92[EUR][1000 genomes]
rs4871414	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4871415	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60068098	0.89[ASN][1000 genomes]
rs6470186	0.93[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66474276	0.85[ASN][1000 genomes]
rs66515434	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67139073	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67237665	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67958403	0.85[ASN][1000 genomes]
rs6985019	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6986269	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6986384	0.91[ASN][1000 genomes]
rs6990565	0.83[AMR][1000 genomes]
rs6998271	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7004482	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7012004	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014688	0.92[CEU][hapmap];0.97[GIH][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs7015861	0.91[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7017174	0.90[EUR][1000 genomes]
rs73333742	0.92[EUR][1000 genomes]
rs73337418	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73337464	0.91[ASN][1000 genomes]
rs73337467	0.91[ASN][1000 genomes]
rs73337469	0.91[ASN][1000 genomes]
rs7815695	0.83[AMR][1000 genomes]
rs7827025	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7827665	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7828192	0.91[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.92[ASN][1000 genomes]
rs7833650	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs7846164	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs874205	0.91[ASN][1000 genomes]
rs874206	0.91[ASN][1000 genomes]
rs874207	0.91[ASN][1000 genomes]
rs9297674	0.92[EUR][1000 genomes]
rs9297675	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9297676	0.91[ASN][1000 genomes]
rs9918907	0.91[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.85[ASN][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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124781600-124790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:124781800-124788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:124781800-124796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:124782200-124791000	Weak transcription	Fetal Kidney	kidney
6	chr8:124782200-124807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:124782600-124791200	Weak transcription	Esophagus	oesophagus
8	chr8:124782600-124791400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:124782600-124793600	Weak transcription	Lung	lung
10	chr8:124782600-124795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:124782800-124789600	Weak transcription	Fetal Lung	lung
12	chr8:124782800-124797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:124783400-124789000	Weak transcription	Stomach Mucosa	stomach
14	chr8:124783400-124791400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:124783400-124796000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:124783600-124790800	Weak transcription	Brain Germinal Matrix	brain
17	chr8:124783600-124794000	Weak transcription	Psoas Muscle	Psoas
18	chr8:124783600-124795200	Weak transcription	Aorta	Aorta
19	chr8:124783600-124797400	Weak transcription	Right Ventricle	heart
20	chr8:124783600-124808000	Weak transcription	Fetal Heart	heart
21	chr8:124784800-124789000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:124785200-124790000	Strong transcription	NHLF	lung
23	chr8:124785400-124788600	Weak transcription	Pancreas	Pancrea
24	chr8:124785400-124815000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:124785600-124815000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:124786000-124789000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:124786000-124789000	Strong transcription	NHDF-Ad	bronchial
29	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
30	chr8:124786200-124788600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:124786200-124788800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:124786200-124803000	Strong transcription	HMEC	breast
33	chr8:124786200-124814400	Strong transcription	HSMM	muscle
34	chr8:124786200-124815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:124786200-124815400	Strong transcription	Dnd41	blood
36	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:124786400-124788600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:124786400-124789200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:124786400-124796200	Strong transcription	K562	blood
40	chr8:124786400-124805400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:124786400-124813800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:124786400-124815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:124786400-124815200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:124786600-124788600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:124786800-124788600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:124786800-124801200	Strong transcription	HepG2	liver
48	chr8:124786800-124814600	Strong transcription	Placenta	Placenta
49	chr8:124787000-124788600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr8:124787000-124788600	Strong transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links