Variant report

Variant	rs10111323
Chromosome Location	chr8:92126457-92126458
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	chr8:92117994..92121552-chr8:92125286..92129221,4	K562	blood:
2	chr8:92119859..92121552-chr8:92126272..92127780,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10100069	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10216413	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10942	0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956790	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956791	0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956792	0.81[CEU][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956793	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956794	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956795	0.86[ASN][1000 genomes]
rs11557571	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11777826	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11778758	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11783034	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11785003	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11786324	0.80[EUR][1000 genomes]
rs1180	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12334996	0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12540975	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12542178	0.80[EUR][1000 genomes]
rs12542580	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12544236	0.93[EUR][1000 genomes]
rs12545969	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12545986	0.85[CEU][hapmap]
rs12546650	0.88[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes]
rs12549426	0.85[CEU][hapmap]
rs12677214	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12679861	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13280667	0.81[CEU][hapmap]
rs28372564	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28629349	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28750250	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34520902	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34548877	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35066004	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35606777	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808378	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3885968	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3885969	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3923174	0.84[CEU][hapmap]
rs4128119	0.86[ASN][1000 genomes]
rs4129720	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4259383	0.87[EUR][1000 genomes]
rs4373488	0.81[CEU][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4419777	0.92[CEU][hapmap];0.84[CHB][hapmap]
rs4501548	0.81[CEU][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4501551	0.81[CEU][hapmap]
rs4524748	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4577919	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4596614	0.81[CEU][hapmap]
rs4620242	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5029071	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55762572	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55775840	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56004977	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56278134	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56306245	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57771593	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58278856	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60166362	0.86[ASN][1000 genomes]
rs61279214	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62526680	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62526682	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62526683	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62526685	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62526686	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62526707	0.92[EUR][1000 genomes]
rs62526730	0.87[EUR][1000 genomes]
rs62531560	0.82[AMR][1000 genomes]
rs6471268	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6987417	0.82[CEU][hapmap];0.80[CHB][hapmap]
rs6987764	0.81[CEU][hapmap];0.84[CHB][hapmap]
rs6993713	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7005674	0.87[ASN][1000 genomes]
rs7815938	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7816107	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7819178	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7820904	0.81[CEU][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7832592	0.82[CEU][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7841266	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8081	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9643319	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9918929	0.81[CEU][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
13	nsv525292	chr8:92123208-92174115	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv465736	chr8:92123208-92174115	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv611722	chr8:92123208-92174115	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv611723	chr8:92123208-92183658	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv891189	chr8:92123208-92188940	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1028288	chr8:92124763-92186057	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10111323	SLC26A7	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
3	chr8:92091200-92133800	Weak transcription	NHLF	lung
4	chr8:92091800-92137800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:92092600-92147800	Weak transcription	Right Ventricle	heart
6	chr8:92095200-92130800	Weak transcription	HSMMtube	muscle
7	chr8:92095800-92126600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:92096800-92135000	Weak transcription	Hela-S3	cervix
9	chr8:92097200-92127000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:92097400-92130800	Weak transcription	Osteobl	bone
11	chr8:92097400-92146200	Weak transcription	Psoas Muscle	Psoas
12	chr8:92100800-92130800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:92104600-92129600	Weak transcription	Brain Anterior Caudate	brain
14	chr8:92104800-92130600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:92104800-92134200	Weak transcription	Thymus	Thymus
16	chr8:92104800-92148000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:92106800-92127400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:92107200-92141000	Weak transcription	HMEC	breast
19	chr8:92109200-92147600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:92110000-92127400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:92110200-92128000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:92110800-92126800	Weak transcription	Fetal Stomach	stomach
23	chr8:92111600-92127600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:92111600-92140800	Weak transcription	Brain Substantia Nigra	brain
25	chr8:92115400-92147800	Weak transcription	Esophagus	oesophagus
26	chr8:92115600-92129600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:92117200-92140000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:92118200-92130800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:92118400-92139000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:92118600-92126600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:92120400-92146800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:92121000-92135000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:92121200-92127000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:92121200-92128400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:92121400-92148200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:92121600-92138200	Weak transcription	Left Ventricle	heart
37	chr8:92121800-92152800	Weak transcription	NHEK	skin
38	chr8:92121800-92153600	Weak transcription	Liver	Liver
39	chr8:92122000-92128600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:92123200-92130800	Weak transcription	K562	blood
41	chr8:92124000-92128400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:92124200-92126600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:92124600-92132800	Weak transcription	Aorta	Aorta
44	chr8:92124600-92154800	Weak transcription	Gastric	stomach
45	chr8:92124800-92126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:92124800-92127200	Weak transcription	Fetal Thymus	thymus
47	chr8:92124800-92129200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:92124800-92130000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:92124800-92130000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:92124800-92130800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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