Variant report

Variant	rs2016793
Chromosome Location	chr17:37909273-37909274
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37892523..37898235-chr17:37904182..37913977,22	MCF-7	breast:
2	chr17:37897334..37903790-chr17:37903988..37910787,11	K562	blood:
3	chr17:37823262..37824838-chr17:37908595..37910545,2	K562	blood:
4	chr17:37772682..37776519-chr17:37907348..37911982,7	MCF-7	breast:
5	chr17:37885072..37889612-chr17:37908286..37912584,6	MCF-7	breast:
6	chr17:37907935..37911541-chr17:37914774..37918367,3	K562	blood:
7	chr17:37909095..37912398-chr17:37915882..37918594,4	MCF-7	breast:
8	chr17:37886591..37888354-chr17:37907462..37910071,2	K562	blood:
9	chr17:37885422..37887892-chr17:37909148..37911946,2	MCF-7	breast:
10	chr17:37905061..37908397-chr17:37908549..37911938,4	MCF-7	breast:
11	chr17:37908803..37910895-chr17:38473942..38476553,2	MCF-7	breast:
12	chr17:37908772..37911030-chr17:38098767..38100390,2	K562	blood:
13	chr17:37854770..37856284-chr17:37908500..37910494,2	MCF-7	breast:
14	chr17:37908791..37912830-chr17:37925750..37930091,5	K562	blood:
15	chr17:37905278..37906793-chr17:37908372..37910022,2	K562	blood:
16	chr17:37777309..37780105-chr17:37909118..37911531,3	MCF-7	breast:
17	chr17:37616757..37620297-chr17:37908971..37911945,3	K562	blood:
18	chr17:37778262..37779269-chr17:37908489..37909454,3	K562	blood:
19	chr17:37909023..37911172-chr17:38018730..38020894,2	K562	blood:
20	chr17:37895465..37903504-chr17:37904751..37910787,10	K562	blood:
21	chr17:37892158..37901988-chr17:37904094..37913282,26	MCF-7	breast:
22	chr17:37803422..37805216-chr17:37908761..37911561,2	K562	blood:
23	chr17:37823299..37826049-chr17:37908764..37910653,3	K562	blood:
24	chr17:37828636..37830492-chr17:37908075..37910484,2	K562	blood:
25	chr17:37775146..37779845-chr17:37909073..37911911,5	K562	blood:
26	chr17:37790735..37794088-chr17:37909085..37913282,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214546	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000161405	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 17 )
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985213	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985214	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985215	0.93[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:6 , 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
6	esv3360194	chr17:37909251-37911799	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 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	chr17:37902200-37910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:37903200-37909400	Weak transcription	HUVEC	blood vessel
5	chr17:37903400-37909400	Weak transcription	Colonic Mucosa	Colon
6	chr17:37903400-37910000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:37904000-37910000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:37906200-37910000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:37906400-37909800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr17:37906400-37909800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:37906600-37909400	Weak transcription	Colon Smooth Muscle	Colon
12	chr17:37906600-37909400	Weak transcription	Fetal Intestine Small	intestine
13	chr17:37906600-37909800	Weak transcription	NH-A	brain
14	chr17:37906800-37909400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:37906800-37909800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:37907000-37909400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:37907000-37909400	Weak transcription	Adipose Nuclei	Adipose
18	chr17:37907000-37909400	Weak transcription	Liver	Liver
19	chr17:37907000-37909400	Weak transcription	Fetal Intestine Large	intestine
20	chr17:37907000-37909400	Weak transcription	Gastric	stomach
21	chr17:37907000-37909400	Weak transcription	Left Ventricle	heart
22	chr17:37907000-37909400	Weak transcription	Right Atrium	heart
23	chr17:37907000-37909800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:37907200-37909400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr17:37907200-37909600	Weak transcription	Stomach Mucosa	stomach
26	chr17:37907200-37910000	Weak transcription	Lung	lung
27	chr17:37907400-37909400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:37907400-37909400	Weak transcription	Placenta	Placenta
29	chr17:37907400-37909400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:37907400-37909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:37907400-37910000	Weak transcription	HMEC	breast
32	chr17:37907600-37909400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:37907600-37910000	Weak transcription	HSMMtube	muscle
34	chr17:37907800-37909400	Weak transcription	Pancreas	Pancrea
35	chr17:37907800-37910000	Enhancers	Primary B cells from cord blood	blood
36	chr17:37908000-37909400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr17:37908000-37909600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr17:37908000-37909600	Enhancers	Fetal Thymus	thymus
39	chr17:37908200-37909400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:37908200-37909400	Weak transcription	Esophagus	oesophagus
41	chr17:37908200-37909400	Weak transcription	Right Ventricle	heart
42	chr17:37908200-37909600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:37908200-37909800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr17:37908200-37909800	Enhancers	Primary B cells from peripheral blood	blood
45	chr17:37908400-37909400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr17:37908400-37909400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr17:37908400-37909400	Weak transcription	A549	lung
48	chr17:37908400-37910000	Enhancers	Fetal Muscle Trunk	muscle
49	chr17:37908400-37910000	Enhancers	HepG2	liver
50	chr17:37908600-37909400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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