Variant report

Variant	rs11870620
Chromosome Location	chr17:45349499-45349500
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45331567..45334832-chr17:45348369..45350446,3	K562	blood:
2	chr17:45339119..45341339-chr17:45349037..45350870,2	K562	blood:
3	chr17:45349283..45353321-chr17:45355036..45358362,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10514919	0.95[ASN][1000 genomes]
rs11651904	0.95[ASN][1000 genomes]
rs11656865	0.95[ASN][1000 genomes]
rs11657517	0.95[ASN][1000 genomes]
rs11657963	0.95[ASN][1000 genomes]
rs11658221	0.95[ASN][1000 genomes]
rs11868894	0.91[ASN][1000 genomes]
rs12940207	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12941431	0.95[ASN][1000 genomes]
rs12950632	0.83[ASN][1000 genomes]
rs16941776	0.95[ASN][1000 genomes]
rs16941780	0.95[ASN][1000 genomes]
rs16941802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1969269	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2292864	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292866	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35265764	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35735886	0.83[ASN][1000 genomes]
rs36046953	0.83[ASN][1000 genomes]
rs3785872	0.84[ASN][1000 genomes]
rs3892085	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61131650	0.95[ASN][1000 genomes]
rs62074423	0.95[ASN][1000 genomes]
rs67696888	0.84[EUR][1000 genomes]
rs7219925	0.95[ASN][1000 genomes]
rs8066295	0.95[ASN][1000 genomes]
rs8074094	0.95[ASN][1000 genomes]
rs8080254	0.95[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
2	chr17:45343600-45352600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:45343800-45351200	Weak transcription	Ovary	ovary
4	chr17:45343800-45351200	Weak transcription	Right Ventricle	heart
5	chr17:45343800-45352600	Weak transcription	Spleen	Spleen
6	chr17:45344000-45352600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:45344800-45350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:45344800-45351800	Weak transcription	Right Atrium	heart
9	chr17:45345000-45350600	Weak transcription	K562	blood
10	chr17:45345000-45351600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr17:45345000-45351800	Weak transcription	Left Ventricle	heart
12	chr17:45345200-45350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:45345400-45351800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:45345800-45350800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:45345800-45352000	Weak transcription	NHLF	lung
16	chr17:45346000-45351000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:45346200-45353200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:45346600-45352200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:45346800-45352600	Weak transcription	Fetal Intestine Small	intestine
20	chr17:45346800-45353200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:45347800-45349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:45347800-45351200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr17:45348000-45350600	Weak transcription	Fetal Heart	heart
24	chr17:45348200-45349800	Enhancers	Primary B cells from peripheral blood	blood
25	chr17:45348200-45350600	Weak transcription	Aorta	Aorta
26	chr17:45348400-45350600	Weak transcription	Colon Smooth Muscle	Colon
27	chr17:45348400-45351600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:45348400-45351800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:45348400-45351800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:45348400-45352200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:45348600-45352000	Weak transcription	Osteobl	bone
32	chr17:45348800-45351600	Weak transcription	NHDF-Ad	bronchial
33	chr17:45348800-45352400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr17:45349200-45350400	Weak transcription	Fetal Kidney	kidney
35	chr17:45349200-45350600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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