Variant report

Variant	rs4794331
Chromosome Location	chr17:46040395-46040396
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr17:46040352-46040561	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr17:46040276-46040596	K562	blood:	n/a	n/a
3	USF1	chr17:46040249-46040591	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF2	chr17:46040380-46040567	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46039770..46041622-chr17:46043476..46045276,2	K562	blood:
2	chr17:46025428..46027974-chr17:46037892..46040881,2	K562	blood:
3	chr17:46039634..46045111-chr17:46046533..46049867,10	K562	blood:
4	chr17:46030056..46036320-chr17:46039939..46045055,5	K562	blood:

No data

Variant related genes	Relation type
CDK5RAP3	TF binding region
ENSG00000264019	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11079800	1.00[YRI][hapmap]
rs11079802	0.92[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11651753	0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs16949418	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs16949720	0.88[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2002136	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2255814	0.98[EUR][1000 genomes]
rs2256020	0.91[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2325748	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs2428608	0.92[ASN][1000 genomes]
rs2525083	0.97[EUR][1000 genomes]
rs2525095	0.96[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2525097	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs2525109	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2525110	0.96[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2597164	0.82[EUR][1000 genomes]
rs2597169	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2597178	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs2737	0.91[CEU][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]
rs2875735	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3764398	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3826396	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4793738	0.94[ASN][1000 genomes]
rs57768342	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61665404	0.95[ASN][1000 genomes]
rs7207225	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7220104	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs72823505	0.99[ASN][1000 genomes]
rs736387	0.91[CEU][hapmap];0.82[YRI][hapmap];0.85[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	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	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46019800-46047600	Weak transcription	Aorta	Aorta
2	chr17:46027200-46047200	Weak transcription	Spleen	Spleen
3	chr17:46027600-46047400	Weak transcription	Right Ventricle	heart
4	chr17:46027600-46047600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:46028000-46047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:46028000-46047600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:46030200-46045800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:46035000-46047400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:46036000-46047200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:46036200-46043400	Weak transcription	A549	lung
11	chr17:46036600-46047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:46036800-46047400	Weak transcription	Thymus	Thymus
13	chr17:46037800-46042400	Weak transcription	Placenta	Placenta
14	chr17:46037800-46047400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:46037800-46047400	Enhancers	Fetal Intestine Small	intestine
16	chr17:46037800-46047800	Enhancers	Fetal Intestine Large	intestine
17	chr17:46038000-46040600	Enhancers	Stomach Mucosa	stomach
18	chr17:46038000-46043000	Weak transcription	Esophagus	oesophagus
19	chr17:46038000-46043800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr17:46038000-46046400	Weak transcription	K562	blood
21	chr17:46038400-46040800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr17:46038400-46042400	Weak transcription	HepG2	liver
23	chr17:46038600-46043400	Enhancers	Colonic Mucosa	Colon
24	chr17:46039200-46042800	Weak transcription	Gastric	stomach
25	chr17:46039200-46043000	Weak transcription	Pancreas	Pancrea
26	chr17:46039400-46041600	Weak transcription	Small Intestine	intestine
27	chr17:46039400-46042400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:46039600-46042800	Weak transcription	Ovary	ovary
29	chr17:46039600-46047600	Weak transcription	Primary T cells from cord blood	blood
30	chr17:46040000-46040400	Enhancers	Duodenum Mucosa	Duodenum

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