Variant report

Variant	rs9515119
Chromosome Location	chr13:110409336-110409337
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:110400836-110410122	SK-N-MC	brain:	n/a	n/a
2	MYC	chr13:110409266-110409413	NB4	blood:	n/a	chr13:110409393-110409406 chr13:110409393-110409406 chr13:110409393-110409406 chr13:110409394-110409405 chr13:110409393-110409406 chr13:110409395-110409404
3	CEBPB	chr13:110409254-110409347	A549	lung:	n/a	chr13:110409281-110409294
4	USF1	chr13:110409254-110409465	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr13:110407719-110409864	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr13:110407908-110409490	SK-N-MC	brain:	n/a	n/a
7	USF2	chr13:110409203-110409802	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr13:110408911-110409914	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr13:110407678-110409907	A549	lung:	n/a	n/a
10	USF1	chr13:110409278-110409494	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000255813	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2289046	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4547213	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4771648	0.86[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap]
rs58120907	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61358232	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs754205	0.83[ASN][1000 genomes]
rs874016	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9515116	0.86[CEU][hapmap]
rs9521508	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9521510	0.86[CEU][hapmap];0.86[CHB][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap]

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	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv526943	chr13:110393477-110421884	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110396400-110416400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:110396600-110411800	Weak transcription	Fetal Kidney	kidney
3	chr13:110396600-110412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:110396600-110412800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:110396600-110417000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:110396800-110411200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:110396800-110417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr13:110397000-110416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:110397200-110411400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:110397200-110430400	Weak transcription	NHLF	lung
12	chr13:110397400-110411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:110397400-110419400	Weak transcription	Lung	lung
14	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:110402200-110413200	Strong transcription	HSMM	muscle
16	chr13:110402600-110409600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:110403000-110410000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:110403200-110409400	Weak transcription	Psoas Muscle	Psoas
19	chr13:110403200-110416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:110403200-110430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr13:110403400-110414600	Weak transcription	Esophagus	oesophagus
22	chr13:110403600-110409400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:110404000-110409400	Strong transcription	Aorta	Aorta
24	chr13:110404000-110409400	Strong transcription	Liver	Liver
25	chr13:110404200-110409400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:110404200-110410200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr13:110404400-110409600	Strong transcription	Primary T cells from cord blood	blood
28	chr13:110404600-110411200	Weak transcription	Right Atrium	heart
29	chr13:110404600-110412400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:110404800-110410000	Weak transcription	HUVEC	blood vessel
31	chr13:110404800-110411400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr13:110405000-110412800	Weak transcription	Pancreas	Pancrea
33	chr13:110405000-110416600	Weak transcription	Small Intestine	intestine
34	chr13:110405200-110413200	Weak transcription	Right Ventricle	heart
35	chr13:110405600-110409800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:110405800-110409400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr13:110405800-110411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:110405800-110413000	Weak transcription	Gastric	stomach
39	chr13:110406200-110429400	Weak transcription	Primary B cells from cord blood	blood
40	chr13:110406800-110413400	Weak transcription	NHDF-Ad	bronchial
41	chr13:110407000-110411200	Weak transcription	Fetal Brain Male	brain
42	chr13:110407200-110409800	Strong transcription	NHEK	skin
43	chr13:110407400-110409400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr13:110407400-110409400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:110407400-110409400	Strong transcription	Brain Germinal Matrix	brain
46	chr13:110407400-110423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:110407600-110409400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr13:110407800-110409400	Strong transcription	Rectal Smooth Muscle	rectum
49	chr13:110408000-110409400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:110408400-110409400	Enhancers	Brain Substantia Nigra	brain

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