Variant report

Variant	rs7209319
Chromosome Location	chr17:66462035-66462036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66459711..66462388-chr17:66755593..66757807,2	K562	blood:
2	chr17:66168267..66168840-chr17:66461918..66462847,2	MCF-7	breast:
3	chr17:66461627..66462484-chr17:66755817..66756633,3	MCF-7	breast:
4	chr17:66461422..66463069-chr17:66471744..66473719,2	K562	blood:
5	chr17:66458968..66465648-chr17:66506510..66510180,10	MCF-7	breast:
6	chr17:66243680..66245835-chr17:66460969..66462879,2	MCF-7	breast:
7	chr17:66460499..66464491-chr17:66506500..66510531,5	MCF-7	breast:
8	chr17:66393437..66396147-chr17:66461455..66462987,2	MCF-7	breast:
9	chr17:66462019..66462889-chr17:66610053..66610702,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265100	Chromatin interaction
ENSG00000108946	Chromatin interaction
ENSG00000196704	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11653260	1.00[ASW][hapmap];0.86[LWK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs12943658	0.91[YRI][hapmap]
rs2287302	0.82[CEU][hapmap]
rs2302784	0.85[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.92[ASN][1000 genomes]
rs3785612	0.85[ASN][1000 genomes]
rs55785206	0.91[ASN][1000 genomes]
rs56233149	0.91[ASN][1000 genomes]
rs62085937	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62085938	0.80[AFR][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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7209319	DDX42	cis	cerebellum	SCAN
rs7209319	LOC440461	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66454600-66464000	Weak transcription	Aorta	Aorta
2	chr17:66454600-66465200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:66454600-66470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:66454800-66462200	Weak transcription	Placenta	Placenta
5	chr17:66454800-66463600	Weak transcription	Right Atrium	heart
6	chr17:66456800-66470400	Weak transcription	Right Ventricle	heart
7	chr17:66459200-66462200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:66459200-66463000	Weak transcription	HSMMtube	muscle
9	chr17:66459200-66464000	Weak transcription	HSMM	muscle
10	chr17:66459200-66466200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:66459400-66462200	Weak transcription	Liver	Liver
12	chr17:66460000-66462200	Weak transcription	A549	lung
13	chr17:66460400-66470400	Weak transcription	Ovary	ovary
14	chr17:66461000-66462200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr17:66461400-66463200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:66461400-66465200	Enhancers	Fetal Muscle Leg	muscle
17	chr17:66461800-66462400	Enhancers	Dnd41	blood
18	chr17:66461800-66463200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr17:66461800-66463400	Enhancers	Fetal Heart	heart
20	chr17:66462000-66462200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr17:66462000-66462200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr17:66462000-66462200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr17:66462000-66462400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr17:66462000-66462400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr17:66462000-66462400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:66462000-66462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:66462000-66462400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr17:66462000-66462400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr17:66462000-66462400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr17:66462000-66462400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:66462000-66462400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr17:66462000-66462400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:66462000-66462400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:66462000-66462400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr17:66462000-66462400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:66462000-66462400	Enhancers	Adipose Nuclei	Adipose
37	chr17:66462000-66462400	Enhancers	Brain Anterior Caudate	brain
38	chr17:66462000-66462400	Enhancers	Brain Cingulate Gyrus	brain
39	chr17:66462000-66462400	Enhancers	Brain Hippocampus Middle	brain
40	chr17:66462000-66462400	Enhancers	Esophagus	oesophagus
41	chr17:66462000-66462400	Enhancers	Fetal Thymus	thymus
42	chr17:66462000-66462400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr17:66462000-66462400	Enhancers	Small Intestine	intestine
44	chr17:66462000-66462400	Enhancers	GM12878-XiMat	blood
45	chr17:66462000-66462400	Enhancers	Hela-S3	cervix
46	chr17:66462000-66462400	Enhancers	HepG2	liver
47	chr17:66462000-66462400	Enhancers	HMEC	breast
48	chr17:66462000-66462400	Enhancers	NHDF-Ad	bronchial
49	chr17:66462000-66462400	Enhancers	NHEK	skin
50	chr17:66462000-66462400	Enhancers	NHLF	lung

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