Variant report

Variant	rs939347
Chromosome Location	chr17:38256693-38256694
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38255224..38257824-chr17:38294998..38297075,3	MCF-7	breast:
2	chr17:38255995..38257777-chr17:38317199..38319011,2	K562	blood:
3	chr17:38254925..38257007-chr17:38334127..38336173,2	MCF-7	breast:
4	chr17:38225724..38230590-chr17:38252636..38256998,6	K562	blood:
5	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
6	chr17:38136308..38139120-chr17:38254735..38257246,2	MCF-7	breast:
7	chr1:149858343..149859055-chr17:38256691..38257650,2	Hela-S3	cervix:
8	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
9	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
10	chr17:38253967..38258330-chr17:38333170..38336526,4	MCF-7	breast:
11	chr17:38218447..38220778-chr17:38254476..38256846,3	K562	blood:
12	chr17:38256255..38256921-chr3:196668897..196669849,2	HCT-116	colon:
13	chr17:37822718..37824685-chr17:38254119..38256837,4	K562	blood:
14	chr17:38223608..38228220-chr17:38255265..38258726,4	MCF-7	breast:
15	chr17:38080996..38082970-chr17:38254753..38256927,2	MCF-7	breast:
16	chr17:38179137..38180988-chr17:38255359..38257668,2	MCF-7	breast:
17	chr17:38169185..38171597-chr17:38253858..38256821,3	K562	blood:
18	chr17:38219115..38220777-chr17:38255846..38258790,2	MCF-7	breast:
19	chr17:38255988..38258755-chr17:38294920..38298049,5	MCF-7	breast:
20	chr17:38255479..38257597-chr17:38472863..38476032,4	MCF-7	breast:
21	chr17:38209724..38212564-chr17:38253281..38256740,3	K562	blood:
22	chr17:38224768..38231268-chr17:38252636..38258126,7	K562	blood:
23	chr17:37822718..37824669-chr17:38254202..38256837,3	K562	blood:
24	chr17:38171795..38174739-chr17:38253717..38256695,2	K562	blood:
25	chr17:38255561..38257319-chr17:38599585..38601482,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000131759	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000141753	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000114503	Chromatin interaction
ENSG00000265799	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000270170	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12941465	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12941497	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12942647	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12947874	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071570	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2314338	0.83[MEX][hapmap]
rs4795424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082192	0.84[MEX][hapmap]

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	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv520636	chr17:38254689-38264197	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv528369	chr17:38256693-38289003	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38254200-38257400	Active TSS	Ovary	ovary
2	chr17:38254200-38257600	Flanking Active TSS	Dnd41	blood
3	chr17:38254200-38257800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr17:38254400-38257400	Flanking Active TSS	Fetal Thymus	thymus
5	chr17:38254400-38257800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:38254600-38257400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr17:38254600-38257600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr17:38254600-38257600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr17:38254600-38257600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr17:38254800-38256800	Flanking Active TSS	Thymus	Thymus
11	chr17:38254800-38257200	Active TSS	Right Ventricle	heart
12	chr17:38254800-38257400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr17:38254800-38257800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:38254800-38257800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:38255000-38256800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:38255000-38256800	Flanking Active TSS	Placenta	Placenta
17	chr17:38255000-38257200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr17:38255000-38257200	Active TSS	Brain Cingulate Gyrus	brain
19	chr17:38255000-38257200	Active TSS	Placenta Amnion	Placenta Amnion
20	chr17:38255000-38257600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:38255000-38257600	Active TSS	Psoas Muscle	Psoas
22	chr17:38255000-38257800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr17:38255200-38257000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:38255200-38257000	Active TSS	Stomach Mucosa	stomach
25	chr17:38255200-38257000	Active TSS	HSMMtube	muscle
26	chr17:38255200-38257200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:38255200-38257200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:38255200-38257200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:38255200-38257200	Active TSS	Brain Angular Gyrus	brain
30	chr17:38255200-38257200	Active TSS	Brain Hippocampus Middle	brain
31	chr17:38255200-38257200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr17:38255200-38257200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr17:38255200-38257200	Active TSS	Brain Substantia Nigra	brain
34	chr17:38255200-38257200	Active TSS	Colon Smooth Muscle	Colon
35	chr17:38255200-38257200	Active TSS	Duodenum Mucosa	Duodenum
36	chr17:38255200-38257200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr17:38255200-38257200	Active TSS	Rectal Smooth Muscle	rectum
38	chr17:38255200-38257200	Active TSS	Right Atrium	heart
39	chr17:38255200-38257200	Active TSS	Hela-S3	cervix
40	chr17:38255200-38257200	Active TSS	HMEC	breast
41	chr17:38255200-38257200	Active TSS	NHEK	skin
42	chr17:38255200-38257200	Active TSS	NHLF	lung
43	chr17:38255200-38257200	Active TSS	Osteobl	bone
44	chr17:38255200-38257400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:38255200-38257400	Active TSS	Esophagus	oesophagus
46	chr17:38255200-38257400	Active TSS	NHDF-Ad	bronchial
47	chr17:38255200-38257600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:38255200-38257600	Active TSS	Left Ventricle	heart
49	chr17:38255400-38257600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr17:38255600-38256800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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