Variant report

Variant	rs17121936
Chromosome Location	chr10:91218305-91218306
allele	C/T
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	JUND	chr10:91218079-91218624	SK-N-SH	brain:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
2	BRCA1	chr10:91218184-91218430	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr10:91218212-91218733	Hela-S3	cervix:	n/a	chr10:91218667-91218678
4	STAT3	chr10:91218278-91218844	MCF10A-Er-Src	breast:	n/a	chr10:91218667-91218678
5	NFIC	chr10:91217918-91218594	ECC-1	luminal epithelium:	n/a	n/a
6	FOS	chr10:91218124-91218451	Hela-S3	cervix:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
7	FOS	chr10:91218146-91218479	MCF10A-Er-Src	breast:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
8	RFX5	chr10:91218148-91218431	Hela-S3	cervix:	n/a	n/a
9	ELK4	chr10:91218159-91218492	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr10:91218141-91218419	SK-N-SH	brain:	n/a	n/a
11	FOS	chr10:91218001-91218624	HUVEC	blood vessel:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
12	FOS	chr10:91218092-91218669	MCF10A-Er-Src	breast:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
13	TEAD4	chr10:91217998-91218836	ECC-1	luminal epithelium:	n/a	n/a
14	JUND	chr10:91218033-91218688	SK-N-SH	brain:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
15	STAT3	chr10:91218279-91218835	MCF10A-Er-Src	breast:	n/a	chr10:91218667-91218678
16	JUND	chr10:91217923-91218512	Hela-S3	cervix:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
17	FOSL2	chr10:91218030-91218511	SK-N-SH	brain:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
18	FOS	chr10:91218138-91218448	MCF10A-Er-Src	breast:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
19	JUND	chr10:91218032-91218505	HCT-116	colon:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
20	NFIC	chr10:91217841-91218567	ECC-1	luminal epithelium:	n/a	n/a
21	JUN	chr10:91218117-91218490	HUVEC	blood vessel:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
22	EP300	chr10:91218131-91218516	Hela-S3	cervix:	n/a	chr10:91218186-91218200
23	NFIC	chr10:91217988-91218498	SK-N-SH	brain:	n/a	n/a
24	MAFK	chr10:91218137-91218397	IMR90	lung:	n/a	n/a
25	STAT3	chr10:91218177-91218313	MCF10A-Er-Src	breast:	n/a	n/a
26	GATA3	chr10:91217978-91218590	SK-N-SH	brain:	n/a	n/a
27	FOS	chr10:91218126-91218477	MCF10A-Er-Src	breast:	n/a	chr10:91218285-91218292 chr10:91218285-91218293 chr10:91218279-91218288
28	EP300	chr10:91218093-91218483	SK-N-SH_RA	brain:	n/a	chr10:91218186-91218200

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:91218263-91218313	PFSK-1	brain:	n/a
2	chr10:91218263-91218313	Jurkat	blood:	n/a
3	chr10:91218263-91218313	AG04449	skin:	fetal
4	chr10:91218263-91218313	LNCaP	prostate:	n/a
5	chr10:91218263-91218313	NHBE	bronchial:	n/a
6	chr10:91218263-91218313	HUVEC	blood vessel:	n/a
7	chr10:91218263-91218313	GM12891	blood:	n/a
8	chr10:91218263-91218313	GM19239	blood:	n/a
9	chr10:91218263-91218313	HEK293	kidney:	embryo
10	chr10:91218263-91218313	HPAEpiC	pulmonary alveolar:	n/a
11	chr10:91218263-91218313	NHDF-neo	bronchial:	n/a
12	chr10:91218263-91218313	PANC-1	pancreas:	n/a
13	chr10:91218263-91218313	AoSMC	blood vessel:	n/a
14	chr10:91218263-91218313	GM12892	blood:	n/a
15	chr10:91218263-91218313	ProgFib	skin:	n/a
16	chr10:91218263-91218313	HIPEpiC	eye:	n/a
17	chr10:91218263-91218313	PrEC	prostate:	n/a
18	chr10:91218263-91218313	HepG2	liver:	n/a
19	chr10:91218263-91218313	RPTEC	kidney:	n/a
20	chr10:91218263-91218313	Hepatocyte	liver:	n/a
21	chr10:91218263-91218313	NH-A	brain:	n/a
22	chr10:91218263-91218313	SK-N-SH_RA	brain:	n/a
23	chr10:91218263-91218313	Hela-S3	cervix:	n/a
24	chr10:91218263-91218313	MCF-7	breast:	n/a
25	chr10:91218263-91218313	IMR90	lung:	fetal
26	chr10:91218263-91218313	HNPCEpiC	eye:	n/a
27	chr10:91218263-91218313	H1-hESC	embryonic stem cell:	embryo
28	chr10:91218263-91218313	HCM	heart:	n/a
29	chr10:91218263-91218313	HCPEpiC	choroid plexus:	n/a
30	chr10:91218263-91218313	NB4	blood:	n/a
31	chr10:91218263-91218313	MCF10A-Er-Src	breast:	n/a
32	chr10:91218263-91218313	NT2-D1	testis:	n/a
33	chr10:91218263-91218313	AG10803	skin:	n/a
34	chr10:91218263-91218313	GM06990	blood:	n/a
35	chr10:91218263-91218313	AG04450	lung:	fetal
36	chr10:91218263-91218313	GM12878	blood:	n/a
37	chr10:91218263-91218313	HRCEpiC	kidney:	n/a
38	chr10:91218263-91218313	SAEC	small airway:	n/a
39	chr10:91218263-91218313	HEEpiC	esophagus:	n/a
40	chr10:91218263-91218313	HCF	heart:	n/a
41	chr10:91218263-91218313	HCT-116	colon:	n/a
42	chr10:91218263-91218313	SK-N-MC	brain:	n/a
43	chr10:91218263-91218313	Caco-2	colon:	n/a
44	chr10:91218263-91218313	T-47D	breast:	n/a
45	chr10:91218263-91218313	AG09319	gingival:	n/a
46	chr10:91218263-91218313	SK-N-SH	brain:	n/a
47	chr10:91218263-91218313	ovcar-3	ovarian:	n/a
48	chr10:91218263-91218313	HRPEpiC	eye:	n/a
49	chr10:91218263-91218313	ECC-1	luminal epithelium:	n/a
50	chr10:91218263-91218313	HMEC	breast:	n/a

Variant related genes	Relation type
ENSG00000234452	TF binding region
ENSG00000234452	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11185734	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11185736	1.00[CEU][hapmap]
rs11203076	1.00[CEU][hapmap]
rs11203087	1.00[CEU][hapmap]
rs11203141	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11813257	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11816805	1.00[CEU][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12257062	1.00[CEU][hapmap]
rs1332334	1.00[CEU][hapmap]
rs1332338	1.00[CEU][hapmap]
rs17118228	1.00[CEU][hapmap]
rs17120040	1.00[CEU][hapmap]
rs3740029	0.83[LWK][hapmap]
rs60496145	1.00[EUR][1000 genomes]
rs7077187	1.00[TSI][hapmap]
rs7080667	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7082073	1.00[CEU][hapmap]
rs7093054	1.00[CEU][hapmap]
rs7101353	1.00[CEU][hapmap]
rs7898580	1.00[CEU][hapmap]
rs7907230	1.00[CEU][hapmap]
rs7923948	1.00[CEU][hapmap]
rs9663530	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91179600-91225600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:91198800-91223600	Weak transcription	Left Ventricle	heart
3	chr10:91214000-91223600	Weak transcription	Pancreas	Pancrea
4	chr10:91214200-91223400	Weak transcription	Placenta	Placenta
5	chr10:91217400-91219200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:91217400-91219200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:91217600-91218400	Enhancers	Fetal Lung	lung
8	chr10:91217600-91218600	Enhancers	NHDF-Ad	bronchial
9	chr10:91217600-91218800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:91217600-91219000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:91217600-91219000	Enhancers	HMEC	breast
12	chr10:91217600-91219000	Enhancers	HSMM	muscle
13	chr10:91217600-91219200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:91217600-91219400	Enhancers	Fetal Heart	heart
15	chr10:91217600-91219400	Enhancers	Hela-S3	cervix
16	chr10:91217600-91220000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:91217800-91218800	Enhancers	HSMMtube	muscle
18	chr10:91217800-91219000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:91217800-91219200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:91218000-91218400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr10:91218000-91218600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:91218000-91218600	Flanking Active TSS	NHLF	lung
23	chr10:91218000-91218800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:91218000-91218800	Enhancers	Aorta	Aorta
25	chr10:91218200-91218400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:91218200-91218400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:91218200-91218400	Enhancers	NHEK	skin
28	chr10:91218200-91218600	Enhancers	A549	lung
29	chr10:91218200-91218600	Flanking Active TSS	HUVEC	blood vessel
30	chr10:91218200-91218600	Flanking Active TSS	Osteobl	bone
31	chr10:91218200-91218800	Flanking Active TSS	NH-A	brain

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