Variant report

Variant	rs73594960
Chromosome Location	chr6:144700145-144700146
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	chr6:144687742..144689243-chr6:144697539..144700530,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12662904	0.90[ASN][1000 genomes]
rs12663172	0.84[ASN][1000 genomes]
rs12663605	0.85[ASN][1000 genomes]
rs12664421	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12665269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58104509	0.93[EUR][1000 genomes]
rs58108287	0.93[EUR][1000 genomes]
rs59862970	0.93[EUR][1000 genomes]
rs60234245	0.90[ASN][1000 genomes]
rs6570623	0.93[EUR][1000 genomes]
rs6570625	0.84[AFR][1000 genomes]
rs6903993	0.95[AFR][1000 genomes]
rs6917034	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73594936	0.99[AFR][1000 genomes]
rs73594937	0.99[AFR][1000 genomes]
rs73594958	0.93[EUR][1000 genomes]
rs73594967	0.93[EUR][1000 genomes]
rs73780544	0.99[AFR][1000 genomes]
rs7743190	0.99[AFR][1000 genomes]
rs7745285	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7761280	0.99[AFR][1000 genomes]
rs7765364	0.93[EUR][1000 genomes]
rs7770411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496950	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144683800-144704600	Weak transcription	Aorta	Aorta
2	chr6:144686600-144700800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:144690800-144712800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:144691600-144713800	Weak transcription	Thymus	Thymus
5	chr6:144692200-144701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:144692400-144702000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:144692400-144702200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:144696400-144701200	Strong transcription	Primary B cells from cord blood	blood
9	chr6:144697000-144714800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:144697200-144700400	Weak transcription	Lung	lung
11	chr6:144697200-144732600	Weak transcription	Gastric	stomach
12	chr6:144697400-144700800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:144697400-144701400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:144698000-144701200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr6:144698200-144700800	Enhancers	Psoas Muscle	Psoas
16	chr6:144698200-144700800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:144698200-144700800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:144698200-144701000	Enhancers	Fetal Heart	heart
19	chr6:144698200-144701200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:144698200-144701400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:144698400-144700800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:144698400-144700800	Enhancers	Right Atrium	heart
23	chr6:144698400-144700800	Enhancers	Spleen	Spleen
24	chr6:144698400-144700800	Enhancers	NHLF	lung
25	chr6:144698400-144701000	Enhancers	Stomach Mucosa	stomach
26	chr6:144698400-144701000	Enhancers	HSMMtube	muscle
27	chr6:144698400-144701000	Enhancers	NHDF-Ad	bronchial
28	chr6:144698600-144700600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:144698600-144700600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:144698600-144700600	Enhancers	Adipose Nuclei	Adipose
31	chr6:144698600-144700800	Enhancers	Left Ventricle	heart
32	chr6:144698600-144700800	Enhancers	Right Ventricle	heart
33	chr6:144698600-144701000	Enhancers	HMEC	breast
34	chr6:144698800-144700800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:144699000-144700400	Weak transcription	NH-A	brain
36	chr6:144699000-144700600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:144699000-144700800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:144699000-144701000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:144699000-144701000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:144699000-144701000	Enhancers	HSMM	muscle
41	chr6:144699000-144701000	Enhancers	Osteobl	bone
42	chr6:144699000-144702200	Weak transcription	Fetal Thymus	thymus
43	chr6:144699000-144708600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:144699200-144700200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:144699200-144701800	Weak transcription	Primary T cells from cord blood	blood
46	chr6:144699400-144700400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:144699400-144700800	Enhancers	Small Intestine	intestine
48	chr6:144699400-144701000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:144699400-144701200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:144699400-144704400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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