Variant report

Variant	rs35449013
Chromosome Location	chr8:120741479-120741480
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120731614..120734170-chr8:120741119..120743235,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10086913	0.80[ASN][1000 genomes]
rs10087723	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10095282	0.95[ASN][1000 genomes]
rs10096486	0.81[ASN][1000 genomes]
rs10096846	0.96[ASN][1000 genomes]
rs10101278	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10102038	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103886	0.96[ASN][1000 genomes]
rs10109513	0.81[ASN][1000 genomes]
rs10109718	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10109808	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10109901	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10109951	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10110061	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10110601	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10113252	0.80[ASN][1000 genomes]
rs10113562	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10505374	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11985300	0.86[EUR][1000 genomes]
rs11989053	0.93[EUR][1000 genomes]
rs12542706	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12543087	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12545479	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12707876	0.99[ASN][1000 genomes]
rs12707880	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13252708	0.96[ASN][1000 genomes]
rs13253139	0.96[ASN][1000 genomes]
rs13255420	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13255850	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13257002	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13261032	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262434	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268676	0.81[ASN][1000 genomes]
rs13270831	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13272852	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs14027	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1433951	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1433952	0.82[ASN][1000 genomes]
rs1433953	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1469755	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509348	0.82[ASN][1000 genomes]
rs1567358	0.82[ASN][1000 genomes]
rs1567359	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16893025	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16893027	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16893071	0.99[ASN][1000 genomes]
rs16893077	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16893101	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16893104	0.97[ASN][1000 genomes]
rs16893109	0.96[ASN][1000 genomes]
rs16893113	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16893140	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1960438	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1976575	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2043430	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2043431	0.99[ASN][1000 genomes]
rs2048239	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063282	0.96[ASN][1000 genomes]
rs2136374	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289011	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326377	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2326378	0.96[ASN][1000 genomes]
rs2634	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28421406	0.97[ASN][1000 genomes]
rs28486074	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28576821	0.97[ASN][1000 genomes]
rs28634937	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28665481	0.97[ASN][1000 genomes]
rs28711081	0.95[ASN][1000 genomes]
rs28715681	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28736344	0.93[EUR][1000 genomes]
rs28756749	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34070855	0.96[ASN][1000 genomes]
rs34718068	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35103910	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35496588	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35521072	0.96[ASN][1000 genomes]
rs35660840	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35679846	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35954443	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812463	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4380974	0.83[ASN][1000 genomes]
rs4870931	0.81[ASN][1000 genomes]
rs4870955	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871528	0.88[ASN][1000 genomes]
rs4871578	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871595	0.82[ASN][1000 genomes]
rs4871599	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871629	0.81[ASN][1000 genomes]
rs4871634	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871640	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871642	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871659	0.86[EUR][1000 genomes]
rs62526565	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469841	0.97[ASN][1000 genomes]
rs6469846	0.81[ASN][1000 genomes]
rs6469849	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6469852	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67905698	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6992632	0.95[ASN][1000 genomes]
rs6994604	0.97[ASN][1000 genomes]
rs6997976	0.97[ASN][1000 genomes]
rs6998058	0.89[ASN][1000 genomes]
rs7005200	0.95[ASN][1000 genomes]
rs7009073	0.94[ASN][1000 genomes]
rs7011974	0.96[ASN][1000 genomes]
rs7012791	0.94[ASN][1000 genomes]
rs7017045	0.81[ASN][1000 genomes]
rs7017279	0.86[EUR][1000 genomes]
rs7813438	0.81[ASN][1000 genomes]
rs7813651	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7821501	0.81[ASN][1000 genomes]
rs7825803	0.96[ASN][1000 genomes]
rs7829390	0.91[ASN][1000 genomes]
rs7833112	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7837213	0.97[ASN][1000 genomes]
rs7837589	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7839110	0.81[ASN][1000 genomes]
rs7843304	0.94[ASN][1000 genomes]
rs9297603	0.94[ASN][1000 genomes]
rs9297604	0.99[ASN][1000 genomes]
rs9693207	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120730400-120743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:120730600-120743800	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:120730600-120750800	Weak transcription	HSMMtube	muscle
5	chr8:120730800-120744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:120730800-120753600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:120731400-120742800	Weak transcription	Osteobl	bone
8	chr8:120731800-120741600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:120731800-120743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:120733800-120741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:120733800-120768600	Weak transcription	Colonic Mucosa	Colon
12	chr8:120734200-120743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:120734200-120743800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:120734400-120743400	Weak transcription	Left Ventricle	heart
15	chr8:120734400-120743600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:120734400-120743600	Weak transcription	Hela-S3	cervix
17	chr8:120734400-120744000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:120734600-120742000	Weak transcription	HSMM	muscle
19	chr8:120734600-120743600	Weak transcription	Fetal Lung	lung
20	chr8:120734600-120743800	Weak transcription	Ovary	ovary
21	chr8:120734600-120747400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:120734600-120779600	Weak transcription	Gastric	stomach
23	chr8:120734800-120742600	Weak transcription	Liver	Liver
24	chr8:120734800-120743600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:120735000-120753800	Weak transcription	NHDF-Ad	bronchial
26	chr8:120735200-120743600	Weak transcription	HepG2	liver
27	chr8:120735200-120743600	Weak transcription	HUVEC	blood vessel
28	chr8:120735200-120754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:120735200-120756400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:120735400-120742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:120735400-120743000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:120735400-120743400	Weak transcription	Fetal Intestine Large	intestine
33	chr8:120735400-120743600	Weak transcription	Adipose Nuclei	Adipose
34	chr8:120735600-120742800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:120735600-120743600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:120735600-120744000	Weak transcription	Small Intestine	intestine
37	chr8:120735600-120748200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:120736200-120743800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:120736200-120743800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:120736400-120767200	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:120736600-120743400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:120736600-120743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:120736600-120746200	Weak transcription	Brain Substantia Nigra	brain
44	chr8:120736600-120779600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:120736600-120779800	Weak transcription	Aorta	Aorta
46	chr8:120736600-120779800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:120736800-120743600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:120736800-120743600	Weak transcription	K562	blood
49	chr8:120736800-120752000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:120736800-120752200	Weak transcription	HMEC	breast

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