Variant report

Variant	rs6690687
Chromosome Location	chr1:56938667-56938668
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56937800..56940373-chr1:56942225..56944887,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10789023	0.82[ASN][1000 genomes]
rs10789024	0.80[ASN][1000 genomes]
rs10888973	0.81[EUR][1000 genomes]
rs11206812	0.90[EUR][1000 genomes]
rs11206813	0.81[EUR][1000 genomes]
rs11206816	0.85[ASN][1000 genomes]
rs11206817	0.85[ASN][1000 genomes]
rs11206818	0.85[ASN][1000 genomes]
rs11206822	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11206823	0.86[ASN][1000 genomes]
rs11206825	0.84[ASN][1000 genomes]
rs11206826	0.80[EUR][1000 genomes]
rs12128107	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12138516	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140958	0.84[EUR][1000 genomes]
rs12739002	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12755498	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12755655	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2780866	0.82[EUR][1000 genomes]
rs4128921	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912291	0.86[ASN][1000 genomes]
rs6676745	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6682210	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682251	0.83[EUR][1000 genomes]
rs6684123	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7418187	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7522127	0.83[EUR][1000 genomes]
rs7525717	0.82[ASN][1000 genomes]
rs7539463	0.83[EUR][1000 genomes]
rs9803955	0.81[EUR][1000 genomes]

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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
3	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
4	chr1:56926800-56939000	Weak transcription	Esophagus	oesophagus
5	chr1:56929400-56942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56931400-56939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:56932000-56943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:56934400-56942400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:56934400-56942600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:56934600-56942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:56934800-56939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:56934800-56943000	Weak transcription	Psoas Muscle	Psoas
13	chr1:56935000-56939800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:56935000-56939800	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:56935200-56938800	Weak transcription	Fetal Stomach	stomach
16	chr1:56935200-56939000	Weak transcription	Right Atrium	heart
17	chr1:56935200-56939400	Weak transcription	Left Ventricle	heart
18	chr1:56935200-56939800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:56935200-56942400	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:56935400-56939600	Weak transcription	Lung	lung
21	chr1:56935800-56939400	Enhancers	HepG2	liver
22	chr1:56936000-56942600	Weak transcription	Osteobl	bone
23	chr1:56936200-56939000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:56936200-56939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:56936400-56938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:56936400-56939000	Weak transcription	Brain Germinal Matrix	brain
27	chr1:56936400-56939000	Weak transcription	Spleen	Spleen
28	chr1:56936400-56939000	Weak transcription	NHLF	lung
29	chr1:56936400-56939200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:56936400-56939400	Weak transcription	Fetal Heart	heart
31	chr1:56936400-56942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:56936600-56939000	Weak transcription	NHDF-Ad	bronchial
33	chr1:56936600-56942600	Weak transcription	Fetal Kidney	kidney
34	chr1:56937000-56938800	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:56937200-56938800	Weak transcription	Stomach Mucosa	stomach
36	chr1:56937400-56939000	Weak transcription	Adipose Nuclei	Adipose
37	chr1:56937400-56939400	Weak transcription	Fetal Lung	lung
38	chr1:56937600-56939600	Enhancers	Primary B cells from cord blood	blood
39	chr1:56937800-56939000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:56937800-56939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:56937800-56939200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:56938000-56939400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:56938200-56939200	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:56938200-56939400	Weak transcription	Brain Angular Gyrus	brain
45	chr1:56938400-56939000	Enhancers	Duodenum Mucosa	Duodenum
46	chr1:56938400-56939200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr1:56938600-56938800	Enhancers	Brain Anterior Caudate	brain
48	chr1:56938600-56938800	Enhancers	Brain Hippocampus Middle	brain
49	chr1:56938600-56938800	Enhancers	GM12878-XiMat	blood
50	chr1:56938600-56940200	Enhancers	Liver	Liver

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