Variant report

Variant	rs6834495
Chromosome Location	chr4:99275508-99275509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10001137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10003061	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10003496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10006734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10010260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10013248	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10015953	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017827	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10022073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025311	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10026222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027925	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10029895	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10032785	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10034649	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10050289	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10212883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1024127	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10470953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12331722	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13353633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16996571	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027340	0.87[EUR][1000 genomes]
rs17027388	0.80[AMR][1000 genomes]
rs17027393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027526	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027538	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027559	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027596	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027597	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373747	1.00[EUR][1000 genomes]
rs28374939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28407050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28446845	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28451188	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28455818	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28459325	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28478192	1.00[AMR][1000 genomes]
rs28494643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28497963	0.91[AMR][1000 genomes]
rs28503871	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28529663	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28558542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564255	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28589745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28647503	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28649922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651612	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28664868	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28705201	0.80[AMR][1000 genomes]
rs28731135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28806635	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28807427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28840158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28882140	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28883979	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28893208	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275691	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275693	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41525749	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55993060	0.87[EUR][1000 genomes]
rs56805018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59725407	1.00[AMR][1000 genomes]
rs60281573	0.87[EUR][1000 genomes]
rs60544326	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60638903	0.87[EUR][1000 genomes]
rs61485715	0.87[EUR][1000 genomes]
rs6831386	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832142	0.87[EUR][1000 genomes]
rs73832145	0.87[EUR][1000 genomes]
rs73832149	0.87[EUR][1000 genomes]
rs73832156	0.87[EUR][1000 genomes]
rs73832317	1.00[EUR][1000 genomes]
rs73834403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834444	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834475	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834479	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834489	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7655622	0.91[AMR][1000 genomes]
rs7656868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658383	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9307226	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9991668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9994467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9995184	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997337	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997973	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9998801	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9999779	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv999097	chr4:99271563-99304326	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1012360	chr4:99271563-99308481	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
2	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
3	chr4:99223800-99288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:99252400-99287400	Weak transcription	Aorta	Aorta
5	chr4:99254400-99286400	Weak transcription	Ovary	ovary
6	chr4:99256200-99287200	Weak transcription	Right Ventricle	heart
7	chr4:99256600-99286000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:99256800-99286400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:99258800-99286000	Weak transcription	Pancreas	Pancrea
10	chr4:99259200-99275800	Weak transcription	K562	blood
11	chr4:99260800-99276600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:99262600-99287000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:99262800-99276800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:99262800-99286000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:99262800-99286400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:99262800-99286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:99262800-99290600	Weak transcription	NH-A	brain
18	chr4:99262800-99295600	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:99262800-99333400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:99263000-99296000	Weak transcription	Brain Angular Gyrus	brain
21	chr4:99263200-99288600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:99263600-99276800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:99263800-99287200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:99264000-99287000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:99264200-99338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:99264600-99288000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:99265200-99286200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:99265200-99297800	Weak transcription	Osteobl	bone
29	chr4:99265400-99287600	Weak transcription	HSMMtube	muscle
30	chr4:99265400-99298400	Weak transcription	NHDF-Ad	bronchial
31	chr4:99265600-99276800	Weak transcription	Fetal Lung	lung
32	chr4:99266200-99287400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:99266800-99283400	Weak transcription	HSMM	muscle
34	chr4:99267400-99276600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:99267400-99284200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:99267600-99284200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:99267600-99284200	Weak transcription	NHEK	skin
38	chr4:99267600-99286000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:99267600-99286200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:99267800-99286000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:99268200-99276400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:99268400-99286000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:99269000-99275600	Weak transcription	GM12878-XiMat	blood
44	chr4:99269000-99286000	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:99269000-99286800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:99271600-99314800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:99272200-99277400	Strong transcription	Dnd41	blood
48	chr4:99272200-99286800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:99273800-99277400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:99274200-99285800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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