Variant report

Variant	rs6656819
Chromosome Location	chr1:94923833-94923834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94923038..94925155-chr1:94932732..94934568,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1023058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11165150	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12080254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12094329	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12142995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12404710	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12750904	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1415758	0.85[ASN][1000 genomes]
rs4148045	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4148046	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148051	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4424519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4579764	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6660167	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs724829	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7528491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871097	chr1:94850443-94941890	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv546851	chr1:94916649-94941376	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94910600-94928600	Weak transcription	A549	lung
2	chr1:94913800-94974200	Weak transcription	Psoas Muscle	Psoas
3	chr1:94914200-94951800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:94914800-94985800	Weak transcription	NHLF	lung
5	chr1:94915400-94929800	Weak transcription	Hela-S3	cervix
6	chr1:94915400-94930400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:94915400-94934000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
9	chr1:94915800-94924600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:94915800-94925400	Weak transcription	Fetal Kidney	kidney
11	chr1:94915800-94925400	Weak transcription	HMEC	breast
12	chr1:94915800-94929400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:94915800-94930600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:94915800-94935000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:94915800-94955400	Weak transcription	NHDF-Ad	bronchial
16	chr1:94915800-94956600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:94916000-94928400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:94916000-94928600	Weak transcription	Colonic Mucosa	Colon
19	chr1:94916000-94930000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:94916000-94932000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:94916000-94941800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:94916000-94957200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:94916000-94969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:94916000-94970000	Weak transcription	Ovary	ovary
25	chr1:94916000-94970000	Weak transcription	Spleen	Spleen
26	chr1:94916000-94973800	Weak transcription	Pancreas	Pancrea
27	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
28	chr1:94916200-94968400	Weak transcription	Gastric	stomach
29	chr1:94916200-94971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:94916200-94974200	Weak transcription	Lung	lung
31	chr1:94916400-94925800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:94916400-94929400	Weak transcription	Fetal Stomach	stomach
33	chr1:94916400-94930000	Weak transcription	Osteobl	bone
34	chr1:94917200-94964400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:94917600-94925400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:94917600-94928800	Weak transcription	HUVEC	blood vessel
37	chr1:94917600-94929000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:94917600-94930000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:94917800-94971800	Weak transcription	NHEK	skin
40	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:94918000-94924800	Weak transcription	Primary B cells from cord blood	blood
42	chr1:94918000-94924800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:94918000-94924800	Weak transcription	Fetal Lung	lung
44	chr1:94918000-94924800	Weak transcription	HSMM	muscle
45	chr1:94918000-94928000	Weak transcription	Stomach Mucosa	stomach
46	chr1:94918000-94929800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:94918000-94942000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:94918000-94957000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:94918200-94930400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:94918800-94924600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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