Variant report

Variant	rs7017780
Chromosome Location	chr8:121616369-121616370
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	chr8:121608620..121610687-chr8:121614325..121616979,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10089944	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10099784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10102980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10103010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10104248	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104255	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113166	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808513	0.89[MEX][hapmap];0.81[AMR][1000 genomes]
rs28415690	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28561998	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28716772	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4259452	0.93[ASN][1000 genomes]
rs4329308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4409430	0.87[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4448320	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4514023	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521809	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4556123	0.86[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4610796	0.90[ASN][1000 genomes]
rs4870735	0.82[AMR][1000 genomes]
rs55646138	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55704534	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57500848	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57589495	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57622256	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57854118	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57931690	0.82[EUR][1000 genomes]
rs58181006	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58342310	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58929354	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59896584	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60307797	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61312574	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6469936	0.87[CHB][hapmap];1.00[CHD][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6981454	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6999024	0.87[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7008488	0.94[MEX][hapmap]
rs7010052	0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680550	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72680551	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680552	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680553	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72680554	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680556	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72680558	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680559	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680560	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680561	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680564	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680565	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680599	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73705090	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73707305	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73708912	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7812594	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814782	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7816034	0.80[CEU][hapmap]
rs7824154	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7824846	0.87[CHB][hapmap];1.00[CHD][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7826902	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7827232	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7827807	0.85[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7828280	0.82[EUR][1000 genomes]
rs7835353	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845125	0.87[CHB][hapmap];0.94[CHD][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7845469	0.85[CEU][hapmap];0.87[CHB][hapmap];0.90[EUR][1000 genomes];0.90[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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv612113	chr8:121616345-121635396	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
5	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
7	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:121605800-121644400	Weak transcription	Gastric	stomach
9	chr8:121606200-121626200	Weak transcription	HSMMtube	muscle
10	chr8:121607400-121623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
12	chr8:121608400-121618600	Strong transcription	HepG2	liver
13	chr8:121609600-121641000	Weak transcription	Lung	lung
14	chr8:121609800-121629000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:121609800-121629000	Weak transcription	Fetal Stomach	stomach
16	chr8:121610200-121623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:121610400-121627400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:121610600-121619800	Weak transcription	Primary T cells from cord blood	blood
19	chr8:121610800-121629800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:121611400-121624400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:121612800-121619800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:121613200-121621600	Weak transcription	Spleen	Spleen
23	chr8:121613200-121622800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:121613200-121623000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
26	chr8:121613400-121617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:121613400-121617600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:121613400-121617600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:121613400-121637200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:121614200-121618000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:121614600-121617400	Weak transcription	Osteobl	bone
32	chr8:121614800-121617400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:121614800-121617400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:121614800-121617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:121614800-121617600	Weak transcription	NHLF	lung
36	chr8:121614800-121627600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:121615000-121617400	Weak transcription	NHDF-Ad	bronchial
38	chr8:121615400-121624400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:121615600-121616600	Strong transcription	Liver	Liver
40	chr8:121615800-121616600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:121616000-121637200	Weak transcription	HSMM	muscle

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