Variant report

Variant	rs12941431
Chromosome Location	chr17:45345736-45345737
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	chr17:45333610..45338031-chr17:45341654..45346712,6	K562	blood:
2	chr17:45317586..45319222-chr17:45343338..45346245,2	K562	blood:

Variant related genes	Relation type
ENSG00000238419	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10514919	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651904	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656865	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657517	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657963	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658221	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868894	0.86[ASN][1000 genomes]
rs11870620	0.95[ASN][1000 genomes]
rs12940207	0.86[ASN][1000 genomes]
rs16941776	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941780	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941802	0.83[ASN][1000 genomes]
rs2292863	0.80[EUR][1000 genomes]
rs2292864	0.85[ASN][1000 genomes]
rs2292866	0.85[ASN][1000 genomes]
rs35265764	0.85[ASN][1000 genomes]
rs3892085	0.87[ASN][1000 genomes]
rs61131650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074423	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219925	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066295	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074094	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080254	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr17:45336000-45346800	Weak transcription	Fetal Heart	heart
3	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
4	chr17:45341400-45348800	Enhancers	NHDF-Ad	bronchial
5	chr17:45342600-45345800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:45342600-45345800	Enhancers	NHLF	lung
7	chr17:45342600-45346000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:45342600-45348400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:45342800-45346200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:45342800-45346200	Enhancers	Osteobl	bone
11	chr17:45343000-45346600	Enhancers	Fetal Intestine Large	intestine
12	chr17:45343200-45345800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:45343400-45346200	Enhancers	Liver	Liver
14	chr17:45343600-45346600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr17:45343600-45352600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:45343800-45346400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:45343800-45351200	Weak transcription	Ovary	ovary
18	chr17:45343800-45351200	Weak transcription	Right Ventricle	heart
19	chr17:45343800-45352600	Weak transcription	Spleen	Spleen
20	chr17:45344000-45352600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr17:45344200-45345800	Enhancers	HepG2	liver
22	chr17:45344400-45346000	Enhancers	Duodenum Mucosa	Duodenum
23	chr17:45344600-45347400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:45344800-45346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:45344800-45346000	Enhancers	HSMM	muscle
26	chr17:45344800-45346200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr17:45344800-45346600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:45344800-45348400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45344800-45350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr17:45344800-45351800	Weak transcription	Right Atrium	heart
31	chr17:45345000-45346200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:45345000-45346400	Weak transcription	Colon Smooth Muscle	Colon
33	chr17:45345000-45347400	Weak transcription	Aorta	Aorta
34	chr17:45345000-45350600	Weak transcription	K562	blood
35	chr17:45345000-45351600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:45345000-45351800	Weak transcription	Left Ventricle	heart
37	chr17:45345200-45346000	Weak transcription	Small Intestine	intestine
38	chr17:45345200-45347200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:45345200-45347800	Weak transcription	HSMMtube	muscle
40	chr17:45345200-45350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:45345400-45346200	Enhancers	NH-A	brain
42	chr17:45345400-45351800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr17:45345600-45345800	Weak transcription	Fetal Intestine Small	intestine

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