Variant report

Variant	rs545651071
Chromosome Location	chr8:61493693-61493694
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	chr8:61479439..61481118-chr8:61492027..61494400,2	K562	blood:
2	chr8:61491953..61494205-chr8:61500253..61502240,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv6218	chr8:61485410-61530933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
6	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
7	chr8:61469000-61495000	Weak transcription	Brain Germinal Matrix	brain
8	chr8:61473600-61493800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:61473600-61495000	Weak transcription	Spleen	Spleen
10	chr8:61473600-61497800	Weak transcription	Lung	lung
11	chr8:61474200-61504000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:61474600-61496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:61474600-61496400	Weak transcription	Thymus	Thymus
14	chr8:61474800-61496000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:61474800-61504000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:61475000-61495600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:61475400-61494600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:61475400-61498200	Weak transcription	A549	lung
19	chr8:61476200-61495400	Weak transcription	Hela-S3	cervix
20	chr8:61476200-61504800	Weak transcription	NHLF	lung
21	chr8:61476200-61517000	Weak transcription	Brain Angular Gyrus	brain
22	chr8:61476400-61495400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:61476400-61496400	Weak transcription	Brain Substantia Nigra	brain
24	chr8:61476600-61495400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:61476800-61495200	Weak transcription	Brain Anterior Caudate	brain
26	chr8:61477000-61495000	Weak transcription	Ovary	ovary
27	chr8:61477200-61494600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:61477400-61497600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:61477800-61496400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:61480800-61496600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:61481000-61496800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:61481000-61497800	Weak transcription	Gastric	stomach
33	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
34	chr8:61481200-61504200	Weak transcription	HMEC	breast
35	chr8:61482200-61496200	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:61482800-61496400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:61482800-61498000	Weak transcription	Aorta	Aorta
38	chr8:61482800-61504000	Weak transcription	HSMMtube	muscle
39	chr8:61482800-61505800	Weak transcription	Esophagus	oesophagus
40	chr8:61483000-61495000	Weak transcription	Pancreas	Pancrea
41	chr8:61483000-61501200	Weak transcription	NHEK	skin
42	chr8:61483400-61505800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:61483600-61496400	Weak transcription	HUVEC	blood vessel
44	chr8:61483800-61515800	Weak transcription	Colonic Mucosa	Colon
45	chr8:61485400-61515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:61485800-61504400	Weak transcription	Small Intestine	intestine
47	chr8:61486200-61494600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:61486400-61493800	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:61487000-61494600	Weak transcription	NHDF-Ad	bronchial
50	chr8:61487000-61495000	Weak transcription	Dnd41	blood

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