Variant report

Variant	rs71378929
Chromosome Location	chr17:66453410-66453411
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66030966..66032993-chr17:66452479..66455259,2	K562	blood:
2	chr17:66030471..66033206-chr17:66450900..66454415,3	MCF-7	breast:
3	chr17:66286038..66290193-chr17:66450658..66456945,10	MCF-7	breast:
4	chr17:66242276..66246117-chr17:66451301..66455927,10	MCF-7	breast:
5	chr17:66286653..66288832-chr17:66452442..66454123,2	K562	blood:
6	chr17:66451996..66456192-chr17:66506725..66511948,5	MCF-7	breast:
7	chr17:65820769..65822418-chr17:66451010..66453920,2	MCF-7	breast:
8	chr17:66394957..66397009-chr17:66453203..66454984,2	K562	blood:
9	chr17:66286653..66290195-chr17:66452394..66455654,6	K562	blood:
10	chr11:61099775..61100323-chr17:66453381..66454210,2	Hela-S3	cervix:
11	chr17:66244200..66246851-chr17:66452530..66455268,2	K562	blood:
12	chr17:66452513..66457853-chr17:66506674..66510981,7	MCF-7	breast:
13	chr17:65988743..65991174-chr17:66452610..66455269,2	MCF-7	breast:
14	chr17:66241762..66247031-chr17:66451924..66454846,13	MCF-7	breast:
15	chr17:66341305..66343019-chr17:66452901..66454766,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182481	Chromatin interaction
ENSG00000108946	Chromatin interaction
ENSG00000167986	Chromatin interaction
ENSG00000265100	Chromatin interaction
ENSG00000108932	Chromatin interaction
ENSG00000196704	Chromatin interaction
ENSG00000186665	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000171634	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11656906	0.81[AFR][1000 genomes]
rs1808333	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2287301	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2302782	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909212	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909214	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2952291	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs869657	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs883620	0.85[EUR][1000 genomes]
rs918167	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3344280	chr17:66452382-66455230	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 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	chr17:66450800-66454400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:66450800-66454800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:66451400-66454400	Active TSS	NHLF	lung
4	chr17:66451600-66454800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:66451600-66454800	Active TSS	Right Atrium	heart
6	chr17:66451800-66454000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:66451800-66454400	Active TSS	NHDF-Ad	bronchial
8	chr17:66452000-66454200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:66452000-66454400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:66452000-66454400	Active TSS	Brain Angular Gyrus	brain
11	chr17:66452000-66454600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:66452000-66454600	Active TSS	Aorta	Aorta
13	chr17:66452000-66454800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:66452000-66454800	Active TSS	Right Ventricle	heart
15	chr17:66452200-66454600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:66452200-66454600	Active TSS	Ovary	ovary
17	chr17:66452400-66453600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr17:66452400-66453600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:66452400-66453600	Flanking Active TSS	Liver	Liver
20	chr17:66452400-66453600	Flanking Active TSS	Dnd41	blood
21	chr17:66452400-66454400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:66452400-66454400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr17:66452400-66454400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:66452400-66454400	Active TSS	Lung	lung
25	chr17:66452400-66454600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr17:66452600-66453600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:66452600-66453600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr17:66452600-66454200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:66452600-66454200	Active TSS	Small Intestine	intestine
30	chr17:66452600-66454400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr17:66452600-66454400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:66452600-66454400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr17:66452600-66454400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:66452600-66454400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr17:66452600-66454400	Active TSS	Esophagus	oesophagus
36	chr17:66452600-66454400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr17:66452600-66454400	Active TSS	Gastric	stomach
38	chr17:66452600-66454600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr17:66452600-66454600	Active TSS	Colonic Mucosa	Colon
40	chr17:66452800-66453600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr17:66452800-66453600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:66452800-66453600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:66452800-66453600	Active TSS	Fetal Heart	heart
44	chr17:66452800-66453600	Active TSS	Placenta Amnion	Placenta Amnion
45	chr17:66452800-66454000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr17:66452800-66454200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:66452800-66454200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:66452800-66454200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:66452800-66454200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr17:66452800-66454200	Active TSS	Muscle Satellite Cultured Cells	--

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