Variant report

Variant	rs73985214
Chromosome Location	chr17:37907846-37907847
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 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	chr17:37907336..37908918-chr17:37910848..37912777,2	MCF-7	breast:
6	chr17:37881164..37883310-chr17:37907132..37908826,2	MCF-7	breast:
7	chr17:37772682..37776519-chr17:37907348..37911982,7	MCF-7	breast:
8	chr17:37886591..37888354-chr17:37907462..37910071,2	K562	blood:
9	chr17:37878383..37881370-chr17:37906332..37908876,2	K562	blood:
10	chr17:37778310..37780085-chr17:37905969..37908685,2	K562	blood:
11	chr17:37893564..37896965-chr17:37905023..37908050,4	K562	blood:
12	chr17:37895465..37903504-chr17:37904751..37910787,10	K562	blood:
13	chr17:37892158..37901988-chr17:37904094..37913282,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214546	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000265178	Chromatin interaction
ENSG00000141741	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12942343	1.00[EUR][1000 genomes]
rs12947955	1.00[EUR][1000 genomes]
rs1810131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016793	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985215	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985216	1.00[EUR][1000 genomes]
rs73985217	1.00[EUR][1000 genomes]
rs73985219	1.00[EUR][1000 genomes]
rs9652839	1.00[EUR][1000 genomes]
rs9674624	1.00[AMR][1000 genomes];1.00[EUR][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37897200-37909400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37897800-37910000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:37901600-37908400	Weak transcription	Fetal Kidney	kidney
4	chr17:37902200-37910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:37902800-37908200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:37903200-37909400	Weak transcription	HUVEC	blood vessel
7	chr17:37903400-37909400	Weak transcription	Colonic Mucosa	Colon
8	chr17:37903400-37910000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:37903600-37908000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr17:37903800-37908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:37904000-37908200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr17:37904000-37910000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr17:37904200-37908200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:37904400-37908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:37905000-37908800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr17:37906000-37909000	Enhancers	Fetal Heart	heart
17	chr17:37906200-37908200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:37906200-37910000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:37906400-37908200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:37906400-37908400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr17:37906400-37908400	Enhancers	A549	lung
22	chr17:37906400-37908600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr17:37906400-37909000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr17:37906400-37909800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr17:37906400-37909800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:37906600-37909200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr17:37906600-37909400	Weak transcription	Colon Smooth Muscle	Colon
28	chr17:37906600-37909400	Weak transcription	Fetal Intestine Small	intestine
29	chr17:37906600-37909800	Weak transcription	NH-A	brain
30	chr17:37906800-37909200	Weak transcription	Spleen	Spleen
31	chr17:37906800-37909400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:37906800-37909800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:37907000-37909400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:37907000-37909400	Weak transcription	Adipose Nuclei	Adipose
35	chr17:37907000-37909400	Weak transcription	Liver	Liver
36	chr17:37907000-37909400	Weak transcription	Fetal Intestine Large	intestine
37	chr17:37907000-37909400	Weak transcription	Gastric	stomach
38	chr17:37907000-37909400	Weak transcription	Left Ventricle	heart
39	chr17:37907000-37909400	Weak transcription	Right Atrium	heart
40	chr17:37907000-37909800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:37907200-37908000	Weak transcription	Fetal Thymus	thymus
42	chr17:37907200-37909400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr17:37907200-37909600	Weak transcription	Stomach Mucosa	stomach
44	chr17:37907200-37910000	Weak transcription	Lung	lung
45	chr17:37907400-37908000	Weak transcription	Esophagus	oesophagus
46	chr17:37907400-37908000	Weak transcription	Right Ventricle	heart
47	chr17:37907400-37909000	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr17:37907400-37909400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:37907400-37909400	Weak transcription	Placenta	Placenta
50	chr17:37907400-37909400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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