Variant report

Variant	rs3764398
Chromosome Location	chr17:46018117-46018118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46018026-46020127	HepG2	liver:	n/a	n/a
2	MXI1	chr17:46017389-46019935	SK-N-SH	brain:	n/a	chr17:46019019-46019028

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45920681..45922665-chr17:46015895..46018695,2	K562	blood:
2	chr17:46018061..46020719-chr17:46045036..46046879,2	K562	blood:
3	chr17:45968434..45977260-chr17:46017847..46029594,27	MCF-7	breast:
4	chr17:45927242..45929769-chr17:46017796..46019388,2	MCF-7	breast:
5	chr17:45906214..45908869-chr17:46017254..46019863,3	MCF-7	breast:
6	chr17:46017765..46021634-chr17:46045854..46051133,6	MCF-7	breast:
7	chr17:45971510..45977679-chr17:46016123..46021422,20	MCF-7	breast:
8	chr17:45886985..45889138-chr17:46015655..46018408,2	K562	blood:
9	chr17:45897782..45899976-chr17:46017642..46019403,2	MCF-7	breast:
10	chr17:45973201..45977546-chr17:46016018..46021091,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263798	TF binding region
PNPO	TF binding region
ENSG00000108465	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000189120	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11079802	0.92[ASN][1000 genomes]
rs11650395	0.86[ASN][1000 genomes]
rs11651753	0.86[ASN][1000 genomes]
rs11653445	0.85[ASN][1000 genomes]
rs12939572	0.84[ASN][1000 genomes]
rs16949418	0.86[ASN][1000 genomes]
rs16949720	0.84[ASN][1000 genomes]
rs2002136	0.92[ASN][1000 genomes]
rs2255814	0.89[EUR][1000 genomes]
rs2325748	0.85[ASN][1000 genomes]
rs2428608	0.84[ASN][1000 genomes]
rs2525083	0.89[EUR][1000 genomes]
rs2525095	0.91[ASN][1000 genomes]
rs2525109	0.86[ASN][1000 genomes]
rs2525110	0.86[ASN][1000 genomes]
rs2597169	0.89[ASN][1000 genomes]
rs2875735	0.89[ASN][1000 genomes]
rs3764394	0.85[ASN][1000 genomes]
rs3826396	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4793738	0.88[ASN][1000 genomes]
rs4794331	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57768342	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59811700	0.85[ASN][1000 genomes]
rs61665404	0.89[ASN][1000 genomes]
rs71377324	0.83[ASN][1000 genomes]
rs7207225	0.85[ASN][1000 genomes]
rs72823505	0.93[ASN][1000 genomes]
rs72833491	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72840233	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9899097	0.86[ASN][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
4	nsv1062503	chr17:45977445-46021384	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv2072	chr17:45998637-46019626	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45983200-46018200	Weak transcription	Fetal Brain Male	brain
2	chr17:45999200-46018200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:46003200-46018400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:46004600-46018200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr17:46005400-46018200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:46007000-46018200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:46007000-46018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr17:46007200-46018200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:46007600-46018200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr17:46007600-46018600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:46007800-46018200	Weak transcription	Colonic Mucosa	Colon
12	chr17:46007800-46018400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr17:46007800-46018800	Weak transcription	Gastric	stomach
14	chr17:46008000-46018200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:46008000-46018200	Weak transcription	Fetal Intestine Large	intestine
16	chr17:46008000-46018200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:46008000-46018400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:46008000-46018400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr17:46008200-46018200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr17:46008200-46018200	Weak transcription	Primary B cells from cord blood	blood
21	chr17:46008200-46018200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr17:46008200-46018200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:46008200-46018200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:46008200-46018200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr17:46008200-46018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr17:46008200-46018400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:46008200-46018400	Weak transcription	Aorta	Aorta
28	chr17:46008400-46018200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr17:46008400-46018400	Weak transcription	Brain Germinal Matrix	brain
30	chr17:46009600-46018200	Weak transcription	Primary T cells from cord blood	blood
31	chr17:46009600-46018200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:46009600-46018400	Weak transcription	Placenta	Placenta
33	chr17:46009800-46018200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:46010400-46018600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:46011000-46018400	Weak transcription	Thymus	Thymus
36	chr17:46011200-46018200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr17:46011200-46018400	Weak transcription	Fetal Lung	lung
38	chr17:46012800-46018200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:46012800-46018200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr17:46013600-46018200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:46013600-46018200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr17:46013600-46018200	Weak transcription	HUVEC	blood vessel
43	chr17:46013600-46018200	Weak transcription	NHLF	lung
44	chr17:46013600-46018400	Weak transcription	NH-A	brain
45	chr17:46013800-46018200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:46013800-46018200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:46013800-46018200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr17:46013800-46018200	Weak transcription	Fetal Intestine Small	intestine
49	chr17:46013800-46018200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr17:46013800-46018200	Weak transcription	NHDF-Ad	bronchial

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