Variant report

Variant	rs73296034
Chromosome Location	chr17:19858210-19858211
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	chr17:19849218..19850772-chr17:19856829..19859320,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12325682	0.95[AFR][1000 genomes]
rs12325689	0.86[AFR][1000 genomes]
rs59774597	0.95[AFR][1000 genomes]
rs60818106	0.88[AFR][1000 genomes]
rs61093861	0.95[AFR][1000 genomes]
rs61612850	0.90[AFR][1000 genomes]
rs61648246	0.85[AFR][1000 genomes]
rs61655182	0.95[AFR][1000 genomes]
rs73296042	0.95[AFR][1000 genomes]
rs73296051	0.93[AFR][1000 genomes]
rs73296074	0.95[AFR][1000 genomes]
rs73296078	0.90[AFR][1000 genomes]
rs73303985	0.95[AFR][1000 genomes]
rs9652900	0.90[AFR][1000 genomes]
rs9652901	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19840000-19879200	Weak transcription	Fetal Brain Male	brain
2	chr17:19844600-19859200	Weak transcription	NHDF-Ad	bronchial
3	chr17:19844800-19859600	Weak transcription	HSMMtube	muscle
4	chr17:19844800-19861000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr17:19846800-19875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:19850600-19861000	Weak transcription	NH-A	brain
7	chr17:19850600-19861400	Weak transcription	Gastric	stomach
8	chr17:19850600-19861600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr17:19850600-19879200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:19850600-19880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:19850600-19880200	Weak transcription	Aorta	Aorta
12	chr17:19851600-19858600	Weak transcription	NHEK	skin
13	chr17:19851600-19859200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr17:19851600-19859200	Weak transcription	HSMM	muscle
15	chr17:19851600-19859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:19851600-19859800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr17:19851600-19871600	Weak transcription	Colonic Mucosa	Colon
18	chr17:19851800-19859200	Weak transcription	Osteobl	bone
19	chr17:19852000-19861200	Weak transcription	NHLF	lung
20	chr17:19852000-19871000	Weak transcription	Small Intestine	intestine
21	chr17:19852200-19858600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:19852200-19858800	Weak transcription	Liver	Liver
23	chr17:19852200-19859000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:19852200-19859400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:19852200-19859400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:19852200-19861000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:19852200-19861000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr17:19852200-19861200	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:19852200-19861200	Weak transcription	Brain Substantia Nigra	brain
30	chr17:19852200-19861200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:19852200-19861400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr17:19852200-19862200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:19852200-19865000	Weak transcription	Ovary	ovary
34	chr17:19852200-19866000	Weak transcription	Spleen	Spleen
35	chr17:19852200-19879400	Weak transcription	Esophagus	oesophagus
36	chr17:19852200-19879600	Weak transcription	Right Ventricle	heart
37	chr17:19852200-19880000	Weak transcription	Psoas Muscle	Psoas
38	chr17:19852400-19858400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr17:19852400-19859200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr17:19852400-19859200	Weak transcription	Brain Angular Gyrus	brain
41	chr17:19852400-19859200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr17:19852400-19859200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr17:19852400-19859600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:19852400-19861000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr17:19852400-19861000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr17:19852400-19861000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr17:19852400-19861000	Weak transcription	HMEC	breast
48	chr17:19852400-19861200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:19852600-19859000	Weak transcription	Hela-S3	cervix
50	chr17:19852600-19859000	Weak transcription	HUVEC	blood vessel

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