Variant report

Variant	rs2930041
Chromosome Location	chr8:61535367-61535368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61534044..61535710-chr8:61537564..61539138,2	K562	blood:
2	chr8:61534210..61537266-chr8:61537564..61540249,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10504313	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11984591	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11984682	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11985737	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11987024	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11988169	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11988323	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11988389	1.00[CHB][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11991778	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11996337	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11997369	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs16926228	0.85[ASN][1000 genomes]
rs16926248	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926250	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16926256	1.00[CHB][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926277	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926304	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926305	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926308	1.00[ASN][1000 genomes]
rs16926311	1.00[ASN][1000 genomes]
rs16926338	1.00[CHB][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2326572	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930038	1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946149	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946150	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2981283	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	0.87[ASN][1000 genomes]
rs60440859	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60504642	1.00[ASN][1000 genomes]
rs61174790	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61291329	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6471887	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987831	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7000882	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7001063	1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7005259	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016173	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73243810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257409	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257414	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257427	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257433	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257434	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257435	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257440	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257481	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257484	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73257486	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257487	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257495	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257499	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259425	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259430	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259438	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259453	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259488	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259499	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261204	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261234	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261269	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7341555	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7341633	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7815886	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7816273	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7825285	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7827528	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7834982	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7839008	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
2	chr8:61517800-61537800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:61518000-61536600	Weak transcription	Aorta	Aorta
4	chr8:61518200-61535600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:61518200-61537200	Weak transcription	Gastric	stomach
6	chr8:61518200-61537400	Weak transcription	Spleen	Spleen
7	chr8:61518400-61536400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:61519000-61535800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
10	chr8:61520200-61540000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:61522000-61538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:61522000-61538400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:61522000-61538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:61522600-61538600	Weak transcription	Left Ventricle	heart
15	chr8:61522800-61538600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:61524000-61535800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:61524200-61538600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:61527200-61535400	Weak transcription	K562	blood
19	chr8:61528800-61535800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:61529200-61535600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr8:61529200-61536200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:61529200-61538200	Strong transcription	Primary B cells from cord blood	blood
23	chr8:61530200-61535600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:61530200-61536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:61530400-61536200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:61531600-61535800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:61532000-61535400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:61532000-61535400	Strong transcription	Dnd41	blood
29	chr8:61532000-61536000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:61532000-61536200	Strong transcription	Liver	Liver
31	chr8:61532400-61536000	Strong transcription	Placenta	Placenta
32	chr8:61532600-61536000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:61532600-61537200	Weak transcription	Fetal Heart	heart
34	chr8:61532600-61537200	Weak transcription	Ovary	ovary
35	chr8:61532600-61537600	Weak transcription	Brain Angular Gyrus	brain
36	chr8:61532600-61537600	Weak transcription	Small Intestine	intestine
37	chr8:61532600-61538000	Weak transcription	Fetal Kidney	kidney
38	chr8:61532600-61539200	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:61532600-61541600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:61532800-61535600	Enhancers	GM12878-XiMat	blood
41	chr8:61532800-61536200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:61532800-61536200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:61532800-61536400	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:61532800-61537400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:61532800-61537600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:61532800-61537600	Weak transcription	Fetal Lung	lung
47	chr8:61532800-61538200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:61532800-61538200	Weak transcription	Brain Anterior Caudate	brain
49	chr8:61533000-61535400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:61533000-61536000	Strong transcription	HUVEC	blood vessel

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