Variant report

Variant	rs62526680
Chromosome Location	chr8:92123030-92123031
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	chr8:92120884..92123955-chr8:92135517..92137332,3	K562	blood:
2	chr8:92120884..92123342-chr8:92135640..92137332,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10100069	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10111323	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10216413	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10942	0.85[AMR][1000 genomes]
rs10956790	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10956791	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10956792	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10956793	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10956794	0.92[EUR][1000 genomes]
rs11557571	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11777826	0.92[EUR][1000 genomes]
rs11778758	0.92[EUR][1000 genomes]
rs11783034	0.92[EUR][1000 genomes]
rs11785003	0.92[EUR][1000 genomes]
rs1180	0.85[AMR][1000 genomes]
rs12334996	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12540975	0.92[EUR][1000 genomes]
rs12542580	0.85[AMR][1000 genomes]
rs12544236	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12545969	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12546650	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679861	0.86[AMR][1000 genomes]
rs28372564	0.90[EUR][1000 genomes]
rs28629349	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28750250	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34520902	0.92[EUR][1000 genomes]
rs34548877	0.91[EUR][1000 genomes]
rs35066004	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35606777	0.91[EUR][1000 genomes]
rs3808378	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3885968	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3885969	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4129720	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4259383	0.84[EUR][1000 genomes]
rs4373488	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4501548	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4524748	0.90[EUR][1000 genomes]
rs4577919	0.92[EUR][1000 genomes]
rs4620242	0.92[EUR][1000 genomes]
rs5029071	0.90[EUR][1000 genomes]
rs55762572	0.91[EUR][1000 genomes]
rs55775840	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56004977	0.92[EUR][1000 genomes]
rs56084507	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56278134	0.86[AMR][1000 genomes]
rs56306245	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57771593	0.92[EUR][1000 genomes]
rs58278856	0.85[AMR][1000 genomes]
rs61279214	0.92[EUR][1000 genomes]
rs62526682	0.92[EUR][1000 genomes]
rs62526683	0.92[EUR][1000 genomes]
rs62526685	0.92[EUR][1000 genomes]
rs62526686	0.92[EUR][1000 genomes]
rs62526707	0.89[EUR][1000 genomes]
rs62526730	0.84[EUR][1000 genomes]
rs62531560	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6471268	0.88[EUR][1000 genomes]
rs6993713	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7816107	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7819178	0.86[AMR][1000 genomes]
rs7832592	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7841266	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8081	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9643319	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9918929	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv611721	chr8:92107070-92183658	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv891186	chr8:92110936-92187738	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv891187	chr8:92110936-92188940	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891188	chr8:92110936-92191011	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv533559	chr8:92116009-92175700	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1027865	chr8:92118995-92179965	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1024251	chr8:92118995-92186057	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62526680	SLC26A7	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
4	chr8:92084000-92124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:92085000-92125800	Weak transcription	Small Intestine	intestine
6	chr8:92091200-92133800	Weak transcription	NHLF	lung
7	chr8:92091800-92137800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:92092600-92147800	Weak transcription	Right Ventricle	heart
9	chr8:92092800-92124400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:92094200-92125200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:92095200-92124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:92095200-92130800	Weak transcription	HSMMtube	muscle
13	chr8:92095800-92126600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:92096800-92135000	Weak transcription	Hela-S3	cervix
15	chr8:92097200-92127000	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:92097400-92126400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:92097400-92130800	Weak transcription	Osteobl	bone
18	chr8:92097400-92146200	Weak transcription	Psoas Muscle	Psoas
19	chr8:92098200-92124600	Weak transcription	HUVEC	blood vessel
20	chr8:92100800-92130800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:92104400-92124400	Weak transcription	Gastric	stomach
22	chr8:92104600-92126000	Weak transcription	Fetal Intestine Large	intestine
23	chr8:92104600-92129600	Weak transcription	Brain Anterior Caudate	brain
24	chr8:92104800-92124400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:92104800-92124400	Weak transcription	Ovary	ovary
26	chr8:92104800-92125400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:92104800-92126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:92104800-92130600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:92104800-92134200	Weak transcription	Thymus	Thymus
30	chr8:92104800-92148000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:92105800-92125800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:92106000-92125800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:92106000-92126400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:92106800-92127400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:92107200-92141000	Weak transcription	HMEC	breast
36	chr8:92107400-92123200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:92108400-92124400	Weak transcription	GM12878-XiMat	blood
38	chr8:92109200-92147600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:92109600-92124400	Weak transcription	NHDF-Ad	bronchial
40	chr8:92110000-92124600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:92110000-92124800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:92110000-92127400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:92110200-92128000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:92110400-92125600	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:92110800-92126800	Weak transcription	Fetal Stomach	stomach
46	chr8:92111000-92126400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:92111400-92123800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:92111600-92123200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:92111600-92125400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:92111600-92127600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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