Variant report

Variant	rs6990243
Chromosome Location	chr8:105516853-105516854
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105516524..105518143-chr8:105519671..105521566,2	K562	blood:
2	chr8:105513176..105515465-chr8:105516605..105518606,2	K562	blood:
3	chr8:105515044..105518143-chr8:105519451..105521196,3	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10505062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808392	0.88[ASN][1000 genomes]
rs10955352	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs11775166	0.81[EUR][1000 genomes]
rs11775331	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11776230	0.84[EUR][1000 genomes]
rs11777528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11779233	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11781863	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782169	0.83[EUR][1000 genomes]
rs11782457	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11782889	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11783063	0.86[EUR][1000 genomes]
rs11783104	0.84[EUR][1000 genomes]
rs11783651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11784193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11785071	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786825	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11787202	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996303	0.88[ASN][1000 genomes]
rs12675273	0.86[EUR][1000 genomes]
rs12675605	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12676758	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12677524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12677793	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12678904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12678962	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12680652	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12681898	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12682004	0.94[ASN][1000 genomes]
rs13249169	1.00[JPT][hapmap]
rs13250948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13259268	0.81[EUR][1000 genomes]
rs13262954	0.86[EUR][1000 genomes]
rs13264598	1.00[JPT][hapmap]
rs13265309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs13266739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13268122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs13270263	0.86[EUR][1000 genomes]
rs13279448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837203	0.86[EUR][1000 genomes]
rs2880074	0.86[EUR][1000 genomes]
rs3018438	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs33999897	0.86[EUR][1000 genomes]
rs34008887	0.81[EUR][1000 genomes]
rs34145689	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34155810	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34155867	0.86[EUR][1000 genomes]
rs34255383	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34299626	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34306176	0.86[EUR][1000 genomes]
rs34435802	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34493777	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34556973	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34695252	0.84[EUR][1000 genomes]
rs34873943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34881302	0.86[EUR][1000 genomes]
rs34971735	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35013911	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140929	0.86[EUR][1000 genomes]
rs35263244	0.84[EUR][1000 genomes]
rs35349928	0.94[ASN][1000 genomes]
rs35379160	0.81[EUR][1000 genomes]
rs35394104	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35467682	0.81[EUR][1000 genomes]
rs35517423	0.83[EUR][1000 genomes]
rs35635659	0.83[EUR][1000 genomes]
rs35649342	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35767747	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35795037	0.86[EUR][1000 genomes]
rs4263729	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs4288345	0.86[EUR][1000 genomes]
rs4552868	0.86[EUR][1000 genomes]
rs4593510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734803	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs6468939	1.00[JPT][hapmap]
rs67089516	0.81[EUR][1000 genomes]
rs67555988	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6984152	0.83[EUR][1000 genomes]
rs6993149	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs6994764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6995010	0.83[EUR][1000 genomes]
rs7004507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009594	0.86[EUR][1000 genomes]
rs71520889	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520892	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520893	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520897	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520900	0.86[EUR][1000 genomes]
rs71520901	0.86[EUR][1000 genomes]
rs731126	0.81[EUR][1000 genomes]
rs7821181	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs7823671	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs7824500	0.81[EUR][1000 genomes]
rs7834086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7842204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105491400-105517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
3	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:105500800-105519800	Strong transcription	Dnd41	blood
5	chr8:105501400-105517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:105501400-105517400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:105501600-105520800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:105501800-105518800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:105501800-105521000	Weak transcription	NHEK	skin
10	chr8:105502000-105518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:105503600-105519000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:105503600-105520800	Weak transcription	Pancreas	Pancrea
13	chr8:105503600-105525800	Weak transcription	HUVEC	blood vessel
14	chr8:105503800-105525000	Weak transcription	Fetal Stomach	stomach
15	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
16	chr8:105505400-105521800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:105506000-105520800	Weak transcription	Brain Angular Gyrus	brain
18	chr8:105506400-105520000	Weak transcription	Right Ventricle	heart
19	chr8:105509600-105535800	Weak transcription	Aorta	Aorta
20	chr8:105510200-105519800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:105510200-105520400	Weak transcription	Lung	lung
22	chr8:105510200-105521200	Weak transcription	Brain Substantia Nigra	brain
23	chr8:105510200-105524600	Weak transcription	NHLF	lung
24	chr8:105510200-105525400	Weak transcription	Primary T cells from cord blood	blood
25	chr8:105510200-105546200	Weak transcription	HMEC	breast
26	chr8:105510400-105521600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
28	chr8:105510800-105531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:105511000-105517400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:105511000-105522200	Weak transcription	Fetal Kidney	kidney
31	chr8:105511000-105525800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:105511000-105527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:105511000-105529800	Weak transcription	Fetal Lung	lung
34	chr8:105511200-105518400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:105511200-105519400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:105511200-105525200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:105511400-105518600	Weak transcription	Brain Anterior Caudate	brain
38	chr8:105511400-105518800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:105511600-105518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:105511600-105518800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:105511600-105519400	Weak transcription	Brain Germinal Matrix	brain
42	chr8:105511600-105520000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:105511600-105525600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:105511600-105525600	Weak transcription	GM12878-XiMat	blood
45	chr8:105511800-105518800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:105511800-105519600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:105511800-105520200	Weak transcription	NH-A	brain
48	chr8:105511800-105520400	Weak transcription	Fetal Intestine Large	intestine
49	chr8:105511800-105524600	Weak transcription	Osteobl	bone
50	chr8:105511800-105527000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links