Variant report

Variant	rs17069288
Chromosome Location	chr6:140083416-140083417
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140081802..140083701-chr6:140096060..140098267,2	K562	blood:
2	chr6:140081301..140083675-chr6:140083815..140085974,2	MCF-7	breast:
3	chr6:140082225..140084956-chr6:140088541..140090075,2	K562	blood:
4	chr6:139694058..139697860-chr6:140083167..140088670,5	MCF-7	breast:
5	chr6:140077496..140081190-chr6:140083108..140086275,5	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3015436	0.93[JPT][hapmap]
rs56310140	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6916734	0.88[EUR][1000 genomes]
rs7753700	1.00[LWK][hapmap]
rs9484315	0.88[EUR][1000 genomes]
rs9495580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9495581	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv464065	chr6:140027836-140085873	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604766	chr6:140027836-140085873	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17069288	ADAT2	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140070200-140085200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:140073000-140089400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:140075000-140085400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:140075200-140083800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:140076000-140085200	Weak transcription	Left Ventricle	heart
6	chr6:140076400-140085000	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:140076400-140085200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:140076800-140085000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:140076800-140085200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:140077000-140085000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:140077000-140085800	Weak transcription	Fetal Kidney	kidney
12	chr6:140077200-140085000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:140077400-140085800	Weak transcription	Pancreas	Pancrea
14	chr6:140078200-140083600	Weak transcription	HUVEC	blood vessel
15	chr6:140079400-140083600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:140079400-140085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:140079600-140083800	Weak transcription	NHLF	lung
18	chr6:140079600-140085000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:140079600-140085400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:140079800-140084000	Weak transcription	A549	lung
21	chr6:140079800-140085000	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:140079800-140090400	Weak transcription	Aorta	Aorta
23	chr6:140080000-140083600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:140080800-140083800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:140081200-140085400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:140081400-140083600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:140081400-140085600	Weak transcription	Ovary	ovary
28	chr6:140081800-140084200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:140082400-140083600	Weak transcription	K562	blood
30	chr6:140082400-140085000	Weak transcription	Right Atrium	heart
31	chr6:140082400-140085600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:140082400-140089400	Weak transcription	Psoas Muscle	Psoas
33	chr6:140083000-140086600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:140083200-140083800	Enhancers	Fetal Lung	lung
35	chr6:140083200-140084000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:140083200-140084000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:140083200-140084200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:140083200-140084600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:140083200-140085200	Enhancers	Osteobl	bone
40	chr6:140083200-140085400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:140083200-140085800	Enhancers	NHDF-Ad	bronchial
42	chr6:140083200-140086400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:140083200-140086400	Enhancers	Fetal Heart	heart
44	chr6:140083200-140087400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:140083200-140088200	Enhancers	HSMM	muscle
46	chr6:140083400-140084200	Enhancers	GM12878-XiMat	blood
47	chr6:140083400-140084600	Enhancers	Adipose Nuclei	Adipose
48	chr6:140083400-140085400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:140083400-140085400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:140083400-140088200	Enhancers	HSMMtube	muscle

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