Variant report

Variant	rs11187599
Chromosome Location	chr10:95462589-95462590
allele	C/G
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	SP4	chr10:95462119-95462730	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELK1	chr10:95462208-95462785	K562	blood:	n/a	chr10:95462343-95462352 chr10:95462343-95462352
3	BRCA1	chr10:95461584-95462653	Hela-S3	cervix:	n/a	n/a
4	POU2F2	chr10:95462062-95462634	GM12891	blood:	n/a	n/a
5	SIX5	chr10:95462167-95462610	A549	lung:	n/a	n/a
6	MAX	chr10:95462082-95462612	HepG2	liver:	n/a	chr10:95462356-95462375 chr10:95462361-95462370 chr10:95462363-95462370
7	YY1	chr10:95462038-95462892	SK-N-SH_RA	brain:	n/a	chr10:95462807-95462826
8	TAF1	chr10:95462093-95462763	MCF-7	breast:	n/a	n/a
9	RAD21	chr10:95461505-95464036	SK-N-SH	brain:	n/a	chr10:95462986-95462995
10	GABPA	chr10:95461857-95462874	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr10:95462049-95462735	H1-hESC	embryonic stem cell:	n/a	n/a
12	GABPA	chr10:95461931-95462842	A549	lung:	n/a	n/a
13	MAZ	chr10:95461739-95462766	Hela-S3	cervix:	n/a	chr10:95462356-95462375 chr10:95462361-95462370 chr10:95462363-95462370
14	ZEB1	chr10:95462023-95462615	GM12878	blood:	n/a	n/a
15	RCOR1	chr10:95462257-95462634	K562	blood:	n/a	n/a
16	TBP	chr10:95462081-95462854	K562	blood:	n/a	n/a
17	ZBTB33	chr10:95462167-95462648	A549	lung:	n/a	n/a
18	PAX5	chr10:95462189-95462599	GM12878	blood:	n/a	chr10:95462343-95462352
19	POLR2A	chr10:95462068-95462608	A549	lung:	n/a	n/a
20	EBF1	chr10:95462019-95462673	GM12878	blood:	n/a	chr10:95462535-95462545
21	MAX	chr10:95461900-95462807	HepG2	liver:	n/a	chr10:95462356-95462375 chr10:95462361-95462370 chr10:95462363-95462370
22	MEF2A	chr10:95461985-95462633	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:95462010-95462758	HUVEC	blood vessel:	n/a	n/a
24	MAX	chr10:95461516-95462912	NB4	blood:	n/a	chr10:95462356-95462375 chr10:95462361-95462370 chr10:95462363-95462370
25	POLR2A	chr10:95462097-95462772	GM12878	blood:	n/a	n/a
26	MAX	chr10:95461598-95463327	A549	lung:	n/a	chr10:95462356-95462375 chr10:95462361-95462370 chr10:95462363-95462370
27	YY1	chr10:95461998-95462870	ECC-1	luminal epithelium:	n/a	chr10:95462807-95462826
28	POLR2A	chr10:95461943-95462730	GM12891	blood:	n/a	n/a
29	POLR2A	chr10:95461897-95462927	SK-N-MC	brain:	n/a	n/a
30	EP300	chr10:95462146-95462607	HepG2	liver:	n/a	chr10:95462344-95462351
31	POLR2A	chr10:95461998-95462816	HCT-116	colon:	n/a	n/a
32	MYC	chr10:95461587-95462624	K562	blood:	n/a	chr10:95462356-95462375 chr10:95462361-95462370 chr10:95462363-95462370
33	SRF	chr10:95462034-95462883	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr10:95462051-95462625	K562	blood:	n/a	chr10:95462356-95462375 chr10:95462361-95462370 chr10:95462363-95462370
35	USF2	chr10:95462207-95462666	Hela-S3	cervix:	n/a	chr10:95462359-95462370
36	MAZ	chr10:95461846-95462652	K562	blood:	n/a	chr10:95462356-95462375 chr10:95462361-95462370 chr10:95462363-95462370
37	MAX	chr10:95462027-95462671	H1-hESC	embryonic stem cell:	n/a	chr10:95462356-95462375 chr10:95462361-95462370 chr10:95462363-95462370
38	GABPA	chr10:95461999-95462641	Hela-S3	cervix:	n/a	n/a
39	YY1	chr10:95462038-95462623	A549	lung:	n/a	n/a
40	POLR2A	chr10:95461983-95462785	K562	blood:	n/a	n/a
41	USF1	chr10:95462149-95462673	A549	lung:	n/a	chr10:95462359-95462370
42	POLR2A	chr10:95462326-95462803	GM12891	blood:	n/a	n/a
43	TBP	chr10:95461538-95463008	GM12878	blood:	n/a	n/a
44	SRF	chr10:95462173-95462596	H1-hESC	embryonic stem cell:	n/a	n/a
45	TEAD4	chr10:95462082-95462682	ECC-1	luminal epithelium:	n/a	n/a
46	REST	chr10:95462109-95462633	MCF-7	breast:	n/a	n/a
47	TAF1	chr10:95462026-95462674	PFSK-1	brain:	n/a	n/a
48	GABPA	chr10:95462027-95462758	HL-60	blood:	n/a	n/a
49	GTF2B	chr10:95462309-95462637	K562	blood:	n/a	n/a
50	POLR2A	chr10:95461769-95462871	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:95462548-95462598	SAEC	small airway:	n/a
2	chr10:95462548-95462598	Hepatocyte	liver:	n/a
3	chr10:95462548-95462598	A549	lung:	n/a
4	chr10:95462548-95462598	GM19239	blood:	n/a
5	chr10:95462548-95462598	MCF-7	breast:	n/a
6	chr10:95462548-95462598	HepG2	liver:	n/a
7	chr10:95462548-95462598	ProgFib	skin:	n/a
8	chr10:95462548-95462598	AG09319	gingival:	n/a
9	chr10:95462548-95462598	HCPEpiC	choroid plexus:	n/a
10	chr10:95462548-95462598	AG04450	lung:	fetal
11	chr10:95462548-95462598	HCT-116	colon:	n/a
12	chr10:95462548-95462598	AG10803	skin:	n/a
13	chr10:95462548-95462598	HL-60	blood:	n/a
14	chr10:95462548-95462598	T-47D	breast:	n/a
15	chr10:95462548-95462598	NT2-D1	testis:	n/a
16	chr10:95462548-95462598	MCF10A-Er-Src	breast:	n/a
17	chr10:95462548-95462598	HEK293	kidney:	embryo
18	chr10:95462548-95462598	H1-hESC	embryonic stem cell:	embryo
19	chr10:95462548-95462598	NH-A	brain:	n/a
20	chr10:95462548-95462598	HCF	heart:	n/a
21	chr10:95462548-95462598	Hela-S3	cervix:	n/a
22	chr10:95462548-95462598	HRCEpiC	kidney:	n/a
23	chr10:95462548-95462598	GM12891	blood:	n/a
24	chr10:95462548-95462598	GM12892	blood:	n/a
25	chr10:95462548-95462598	AG09309	skin:	n/a
26	chr10:95462548-95462598	HAEpiC	amniotic membrane:	n/a
27	chr10:95462548-95462598	SK-N-MC	brain:	n/a
28	chr10:95462548-95462598	PrEC	prostate:	n/a
29	chr10:95462548-95462598	AoSMC	blood vessel:	n/a
30	chr10:95462548-95462598	CMK	blood:	n/a
31	chr10:95462548-95462598	GM06990	blood:	n/a
32	chr10:95462548-95462598	PFSK-1	brain:	n/a
33	chr10:95462548-95462598	SK-N-SH	brain:	n/a
34	chr10:95462548-95462598	HMEC	breast:	n/a
35	chr10:95462548-95462598	IMR90	lung:	fetal
36	chr10:95462548-95462598	GM12878	blood:	n/a
37	chr10:95462548-95462598	AG04449	skin:	fetal
38	chr10:95462548-95462598	Jurkat	blood:	n/a
39	chr10:95462548-95462598	SK-N-SH_RA	brain:	n/a
40	chr10:95462548-95462598	BE2_C	brain:	n/a
41	chr10:95462548-95462598	HRE	kidney:	n/a
42	chr10:95462548-95462598	HNPCEpiC	eye:	n/a
43	chr10:95462548-95462598	RPTEC	kidney:	n/a
44	chr10:95462548-95462598	NHDF-neo	bronchial:	n/a
45	chr10:95462548-95462598	HRPEpiC	eye:	n/a
46	chr10:95462548-95462598	NB4	blood:	n/a
47	chr10:95462548-95462598	PANC-1	pancreas:	n/a
48	chr10:95462548-95462598	BJ	skin:	n/a
49	chr10:95462548-95462598	LNCaP	prostate:	n/a
50	chr10:95462548-95462598	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:115300180..115301043-chr10:95461831..95462642,2	Hela-S3	cervix:
2	chr10:95461812..95462642-chr2:46524468..46524983,2	Hela-S3	cervix:
3	chr10:95461845..95463891-chr10:95652096..95654090,2	K562	blood:
4	chr10:95275012..95277100-chr10:95460216..95463300,3	MCF-7	breast:
5	chr10:95461706..95462593-chr11:122932742..122933375,2	NB4	blood:

Variant related genes	Relation type
FRA10AC1	TF binding region
FRA10AC1	CpG island
ENSG00000116016	Chromatin interaction
ENSG00000109971	Chromatin interaction
ENSG00000138180	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000176273	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10444062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882299	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882302	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882303	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882319	0.93[ASN][1000 genomes]
rs11187580	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187582	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187583	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187584	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187585	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187596	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11187616	0.87[ASN][1000 genomes]
rs11187620	1.00[ASN][1000 genomes]
rs11187644	0.85[ASN][1000 genomes]
rs1998840	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45468996	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7094280	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050705	chr10:95384527-95469255	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv540747	chr10:95384527-95469255	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv3346948	chr10:95421957-95532625	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv522686	chr10:95440286-95471338	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11187599	FRA10AC1	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95460800-95463000	Active TSS	Psoas Muscle	Psoas
2	chr10:95461000-95463000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:95461000-95463000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:95461000-95463200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:95461000-95463200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr10:95461000-95463400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr10:95461000-95463400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr10:95461200-95463000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr10:95461200-95463000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr10:95461200-95463000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:95461200-95463200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr10:95461200-95463200	Active TSS	Brain Germinal Matrix	brain
13	chr10:95461200-95463200	Active TSS	GM12878-XiMat	blood
14	chr10:95461200-95463400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:95461200-95463400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:95461200-95463400	Active TSS	Stomach Smooth Muscle	stomach
17	chr10:95461400-95463000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:95461400-95463000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:95461400-95463000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:95461400-95463000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:95461400-95463200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr10:95461400-95463200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr10:95461400-95463200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr10:95461400-95463200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:95461400-95463200	Active TSS	Esophagus	oesophagus
26	chr10:95461400-95463200	Active TSS	Fetal Muscle Trunk	muscle
27	chr10:95461400-95463200	Active TSS	Gastric	stomach
28	chr10:95461400-95463200	Active TSS	Left Ventricle	heart
29	chr10:95461400-95463200	Active TSS	Lung	lung
30	chr10:95461400-95463200	Active TSS	Placenta Amnion	Placenta Amnion
31	chr10:95461400-95463400	Active TSS	Colonic Mucosa	Colon
32	chr10:95461400-95463400	Active TSS	Right Atrium	heart
33	chr10:95461400-95463600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr10:95461600-95462800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:95461600-95462800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:95461600-95462800	Active TSS	Duodenum Mucosa	Duodenum
37	chr10:95461600-95462800	Active TSS	Placenta	Placenta
38	chr10:95461600-95462800	Active TSS	HMEC	breast
39	chr10:95461600-95463000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:95461600-95463000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:95461600-95463000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr10:95461600-95463000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:95461600-95463000	Active TSS	Brain Substantia Nigra	brain
44	chr10:95461600-95463000	Active TSS	Fetal Heart	heart
45	chr10:95461600-95463000	Active TSS	K562	blood
46	chr10:95461600-95463000	Active TSS	NHEK	skin
47	chr10:95461600-95463000	Active TSS	NHLF	lung
48	chr10:95461600-95463000	Active TSS	Osteobl	bone
49	chr10:95461600-95463200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr10:95461600-95463200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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