Variant report

Variant	rs6688009
Chromosome Location	chr1:56995324-56995325
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	chr1:56967555..56969959-chr1:56994759..56997021,2	K562	blood:
2	chr1:56968459..56970187-chr1:56994690..56997021,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1041602	0.89[CEU][hapmap]
rs1418977	0.89[CEU][hapmap]
rs17470169	0.84[CEU][hapmap]
rs1759753	0.90[CEU][hapmap]
rs1777279	0.90[CEU][hapmap]
rs1819750	0.90[CEU][hapmap]
rs3927760	0.94[CEU][hapmap]
rs41487448	0.89[CEU][hapmap]
rs6674131	0.89[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56977800-56999200	Weak transcription	A549	lung
3	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
5	chr1:56990000-57004000	Genic enhancers	Liver	Liver
6	chr1:56990200-56998600	Enhancers	Brain Substantia Nigra	brain
7	chr1:56990400-56996200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:56990600-56995400	Enhancers	Small Intestine	intestine
9	chr1:56990600-56996600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:56990600-56997800	Enhancers	Brain Anterior Caudate	brain
11	chr1:56990800-56996600	Genic enhancers	NHLF	lung
12	chr1:56990800-56997000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:56990800-56997200	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:56990800-56997400	Enhancers	Brain Hippocampus Middle	brain
15	chr1:56991000-56996200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:56991200-56996600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:56991600-56995600	Enhancers	Colon Smooth Muscle	Colon
18	chr1:56991800-56996800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:56992000-56995600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:56992000-57001200	Weak transcription	Spleen	Spleen
21	chr1:56992200-56995400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:56992600-56997400	Weak transcription	Lung	lung
23	chr1:56992800-56997800	Weak transcription	HSMMtube	muscle
24	chr1:56992800-56998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:56992800-56998800	Weak transcription	Gastric	stomach
26	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
27	chr1:56993000-56998800	Enhancers	Ovary	ovary
28	chr1:56993000-56999800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:56993000-57004600	Weak transcription	Hela-S3	cervix
30	chr1:56993200-56995800	Strong transcription	HepG2	liver
31	chr1:56993200-57001400	Enhancers	Right Atrium	heart
32	chr1:56993600-57007800	Weak transcription	Primary B cells from cord blood	blood
33	chr1:56993800-56998000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:56993800-56998200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:56993800-57004200	Weak transcription	NH-A	brain
36	chr1:56994000-56995800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:56994000-56995800	Weak transcription	Brain Angular Gyrus	brain
38	chr1:56994000-56996000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:56994000-56996000	Weak transcription	Pancreas	Pancrea
40	chr1:56994000-56997800	Weak transcription	Esophagus	oesophagus
41	chr1:56994000-56997800	Weak transcription	Thymus	Thymus
42	chr1:56994000-56998600	Weak transcription	Colonic Mucosa	Colon
43	chr1:56994000-56999000	Weak transcription	Aorta	Aorta
44	chr1:56994000-57000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:56994000-57001200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:56994000-57004000	Weak transcription	HUVEC	blood vessel
47	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
48	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
49	chr1:56994200-56998000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:56994200-56998800	Weak transcription	Rectal Mucosa Donor 31	rectum

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