Variant report

Variant	rs8073827
Chromosome Location	chr17:45344662-45344663
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45333610..45338031-chr17:45341654..45346712,6	K562	blood:
2	chr17:45317586..45319222-chr17:45343338..45346245,2	K562	blood:
3	chr17:45342339..45344820-chr17:45354708..45356639,2	K562	blood:

Variant related genes	Relation type
ENSG00000238419	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1000232	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11656809	0.87[EUR][1000 genomes]
rs12949936	0.87[EUR][1000 genomes]
rs15908	0.91[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs16941801	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2015729	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs2292699	0.91[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs2292863	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2292865	0.90[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs3851807	0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4634	0.87[EUR][1000 genomes]
rs4642	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs56327427	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7209700	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7212751	0.84[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7214468	0.86[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap]
rs7217710	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7218632	0.80[EUR][1000 genomes]
rs7219925	0.81[YRI][hapmap]
rs8074348	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs884696	0.81[YRI][hapmap]
rs999323	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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:57 , 50 per page) page: 1 2

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	chr17:45339400-45345000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45341000-45345000	Enhancers	K562	blood
6	chr17:45341400-45348800	Enhancers	NHDF-Ad	bronchial
7	chr17:45342000-45345200	Enhancers	Small Intestine	intestine
8	chr17:45342600-45345000	Enhancers	Colon Smooth Muscle	Colon
9	chr17:45342600-45345800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45342600-45345800	Enhancers	NHLF	lung
11	chr17:45342600-45346000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:45342600-45348400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:45342800-45344800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:45342800-45345000	Enhancers	HMEC	breast
15	chr17:45342800-45345000	Enhancers	HUVEC	blood vessel
16	chr17:45342800-45345000	Enhancers	NH-A	brain
17	chr17:45342800-45345200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:45342800-45345200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr17:45342800-45345600	Enhancers	Fetal Intestine Small	intestine
20	chr17:45342800-45346200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:45342800-45346200	Enhancers	Osteobl	bone
22	chr17:45343000-45346600	Enhancers	Fetal Intestine Large	intestine
23	chr17:45343200-45344800	Enhancers	Right Atrium	heart
24	chr17:45343200-45345200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:45343200-45345200	Enhancers	Hela-S3	cervix
26	chr17:45343200-45345200	Enhancers	HSMMtube	muscle
27	chr17:45343200-45345400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr17:45343200-45345800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:45343400-45344800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:45343400-45345000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr17:45343400-45345000	Enhancers	NHEK	skin
32	chr17:45343400-45345200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:45343400-45346200	Enhancers	Liver	Liver
34	chr17:45343600-45345000	Enhancers	Aorta	Aorta
35	chr17:45343600-45345200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:45343600-45346600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr17:45343600-45352600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr17:45343800-45345200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:45343800-45346400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr17:45343800-45351200	Weak transcription	Ovary	ovary
41	chr17:45343800-45351200	Weak transcription	Right Ventricle	heart
42	chr17:45343800-45352600	Weak transcription	Spleen	Spleen
43	chr17:45344000-45344800	Weak transcription	Gastric	stomach
44	chr17:45344000-45344800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:45344000-45352600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:45344200-45345200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr17:45344200-45345800	Enhancers	HepG2	liver
48	chr17:45344400-45344800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:45344400-45344800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr17:45344400-45344800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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