Variant report

Variant	rs2292864
Chromosome Location	chr17:45367681-45367682
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	chr17:45363175..45368028-chr17:45369299..45373237,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10514919	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11651904	0.85[ASN][1000 genomes]
rs11656865	0.85[ASN][1000 genomes]
rs11657517	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11657963	0.85[ASN][1000 genomes]
rs11658221	0.93[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11868894	0.86[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11870620	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12940207	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12941431	0.85[ASN][1000 genomes]
rs12950632	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16941776	0.85[ASN][1000 genomes]
rs16941780	0.85[ASN][1000 genomes]
rs16941802	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16941908	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs1969269	0.98[EUR][1000 genomes]
rs2292866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292867	1.00[ASW][hapmap];0.85[LWK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35265764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35735886	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36046953	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3785872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3892085	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61131650	0.85[ASN][1000 genomes]
rs62074423	0.85[ASN][1000 genomes]
rs67696888	0.81[AFR][1000 genomes]
rs7219925	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs72825627	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8066295	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8074094	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8080254	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45354600-45372000	Weak transcription	Esophagus	oesophagus
2	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
3	chr17:45357200-45371600	Weak transcription	Right Ventricle	heart
4	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
5	chr17:45357800-45369400	Weak transcription	Fetal Intestine Small	intestine
6	chr17:45358200-45371800	Weak transcription	Colonic Mucosa	Colon
7	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:45358600-45371000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:45359000-45371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:45359000-45372000	Weak transcription	Left Ventricle	heart
11	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:45359800-45371200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr17:45360400-45371800	Strong transcription	Colon Smooth Muscle	Colon
14	chr17:45360600-45373800	Strong transcription	Fetal Stomach	stomach
15	chr17:45360800-45371800	Strong transcription	Fetal Muscle Leg	muscle
16	chr17:45361400-45370000	Strong transcription	Aorta	Aorta
17	chr17:45361400-45371400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr17:45361800-45368200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:45362800-45370800	Weak transcription	HUVEC	blood vessel
20	chr17:45363200-45368000	Weak transcription	Liver	Liver
21	chr17:45364400-45371800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:45364600-45369400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:45365800-45370800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:45366000-45369800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr17:45366000-45371400	Weak transcription	GM12878-XiMat	blood
26	chr17:45366200-45368200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:45366200-45370600	Weak transcription	Primary B cells from cord blood	blood
28	chr17:45366200-45371400	Weak transcription	HSMM	muscle
29	chr17:45366200-45372200	Weak transcription	Small Intestine	intestine
30	chr17:45366400-45368200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:45366400-45368200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:45366400-45368600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:45366400-45368600	Enhancers	K562	blood
34	chr17:45366400-45369000	Weak transcription	Fetal Heart	heart
35	chr17:45366400-45369400	Weak transcription	Ovary	ovary
36	chr17:45366400-45369600	Weak transcription	Gastric	stomach
37	chr17:45366400-45371400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr17:45366400-45371600	Weak transcription	Hela-S3	cervix
39	chr17:45366400-45371800	Weak transcription	Lung	lung
40	chr17:45366600-45367800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:45366600-45368000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:45366600-45371200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:45366600-45371200	Weak transcription	NH-A	brain
44	chr17:45366600-45371800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr17:45366600-45371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:45366600-45371800	Weak transcription	Right Atrium	heart
47	chr17:45366800-45371800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:45367200-45368200	Strong transcription	Osteobl	bone
49	chr17:45367400-45368800	Strong transcription	HSMMtube	muscle
50	chr17:45367600-45368000	Strong transcription	Adipose Nuclei	Adipose

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