Variant report

Variant	rs66639406
Chromosome Location	chr17:37906359-37906360
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37892523..37898235-chr17:37904182..37913977,22	MCF-7	breast:
2	chr17:37905061..37908397-chr17:37908549..37911938,4	MCF-7	breast:
3	chr17:37897334..37903790-chr17:37903988..37910787,11	K562	blood:
4	chr17:37789471..37791960-chr17:37905766..37908053,2	MCF-7	breast:
5	chr17:37878383..37881370-chr17:37906332..37908876,2	K562	blood:
6	chr17:37903978..37906952-chr17:37910372..37912419,2	K562	blood:
7	chr17:37778310..37780085-chr17:37905969..37908685,2	K562	blood:
8	chr17:37893564..37896965-chr17:37905023..37908050,4	K562	blood:
9	chr17:37895465..37903504-chr17:37904751..37910787,10	K562	blood:
10	chr17:37905278..37906793-chr17:37908372..37910022,2	K562	blood:
11	chr17:37892158..37901988-chr17:37904094..37913282,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141738	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12943460	0.97[AFR][1000 genomes]
rs12945567	1.00[AMR][1000 genomes]
rs12952222	1.00[AMR][1000 genomes]
rs34145888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34406947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34715089	1.00[AMR][1000 genomes]
rs34869948	1.00[AMR][1000 genomes]
rs34872040	1.00[AMR][1000 genomes]
rs34894549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35226954	1.00[AMR][1000 genomes]
rs35708591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35802901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35932672	1.00[AMR][1000 genomes]
rs5644	1.00[AMR][1000 genomes]
rs57074971	1.00[AMR][1000 genomes]
rs58627150	1.00[AMR][1000 genomes]
rs59016861	1.00[AMR][1000 genomes]
rs59294054	1.00[AMR][1000 genomes]
rs66788250	1.00[AMR][1000 genomes]
rs67599922	1.00[AMR][1000 genomes]
rs67919571	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294102	1.00[AMR][1000 genomes]
rs73302113	1.00[AMR][1000 genomes]
rs73302117	1.00[AMR][1000 genomes]
rs73308310	1.00[AMR][1000 genomes]
rs73308323	1.00[AMR][1000 genomes]
rs73308329	1.00[AMR][1000 genomes]
rs73308333	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37897200-37909400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37897800-37906400	Weak transcription	Right Ventricle	heart
3	chr17:37897800-37910000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:37899400-37906400	Weak transcription	Spleen	Spleen
5	chr17:37901400-37906400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:37901600-37906400	Weak transcription	A549	lung
7	chr17:37901600-37908400	Weak transcription	Fetal Kidney	kidney
8	chr17:37902200-37906400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:37902200-37906400	Weak transcription	Lung	lung
10	chr17:37902200-37910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:37902400-37906400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:37902600-37906400	Weak transcription	Hela-S3	cervix
13	chr17:37902800-37908200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr17:37903200-37906400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr17:37903200-37909400	Weak transcription	HUVEC	blood vessel
16	chr17:37903400-37906400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:37903400-37906400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:37903400-37909400	Weak transcription	Colonic Mucosa	Colon
19	chr17:37903400-37910000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr17:37903600-37908000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:37903800-37908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:37904000-37906400	Weak transcription	Liver	Liver
23	chr17:37904000-37908200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr17:37904000-37910000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr17:37904200-37906600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr17:37904200-37908200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr17:37904400-37906400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr17:37904400-37906400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:37904400-37906400	Weak transcription	Esophagus	oesophagus
30	chr17:37904400-37906400	Weak transcription	Fetal Intestine Large	intestine
31	chr17:37904400-37906400	Weak transcription	Gastric	stomach
32	chr17:37904400-37906800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr17:37904400-37907400	Enhancers	Placenta	Placenta
34	chr17:37904400-37908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:37904600-37906400	Enhancers	HepG2	liver
36	chr17:37905000-37908800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr17:37905800-37906400	Weak transcription	Right Atrium	heart
38	chr17:37905800-37907800	Enhancers	Pancreas	Pancrea
39	chr17:37906000-37906600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:37906000-37906600	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr17:37906000-37907000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:37906000-37907000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:37906000-37907000	Enhancers	Left Ventricle	heart
44	chr17:37906000-37907400	Enhancers	HMEC	breast
45	chr17:37906000-37909000	Enhancers	Fetal Heart	heart
46	chr17:37906200-37906800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:37906200-37906800	Enhancers	NHEK	skin
48	chr17:37906200-37907200	Enhancers	Stomach Mucosa	stomach
49	chr17:37906200-37908200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:37906200-37910000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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