Variant report

Variant	rs17140138
Chromosome Location	chr7:18886618-18886619
allele	A/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	EP300	chr7:18886145-18886903	SK-N-SH_RA	brain:	n/a	chr7:18886154-18886162
2	JUND	chr7:18886114-18886833	SK-N-SH	brain:	n/a	chr7:18886619-18886631
3	TCF12	chr7:18885475-18887137	SK-N-SH	brain:	n/a	n/a
4	SIN3AK20	chr7:18886326-18886627	PFSK-1	brain:	n/a	n/a
5	TAF1	chr7:18886336-18886625	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr7:18886156-18886746	T-47D	breast:	n/a	chr7:18886496-18886512 chr7:18886501-18886508 chr7:18886499-18886509 chr7:18886501-18886508 chr7:18886736-18886746 chr7:18886500-18886508 chr7:18886499-18886508 chr7:18886501-18886508 chr7:18886494-18886515
7	REST	chr7:18886341-18886717	SK-N-SH	brain:	n/a	n/a
8	REST	chr7:18886272-18886883	PFSK-1	brain:	n/a	n/a
9	USF1	chr7:18886295-18886662	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr7:18885809-18886762	T-47D	breast:	n/a	chr7:18886154-18886162
11	TAF1	chr7:18886242-18886844	PFSK-1	brain:	n/a	n/a
12	RAD21	chr7:18886181-18886900	SK-N-SH_RA	brain:	n/a	n/a
13	PBX3	chr7:18886126-18886879	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:18885656-18887256	SK-N-MC	brain:	n/a	n/a
15	EP300	chr7:18885710-18886857	SK-N-SH_RA	brain:	n/a	chr7:18886154-18886162
16	FOXA1	chr7:18885888-18886631	T-47D	breast:	n/a	n/a
17	JUND	chr7:18886244-18886784	T-47D	breast:	n/a	chr7:18886619-18886631
18	POLR2A	chr7:18886251-18886946	PFSK-1	brain:	n/a	n/a
19	TEAD4	chr7:18886047-18886914	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr7:18886145-18887026	SK-N-SH	brain:	n/a	n/a
21	EP300	chr7:18882736-18890371	SK-N-SH	brain:	n/a	chr7:18888945-18888959 chr7:18884622-18884636 chr7:18888951-18888965 chr7:18889014-18889023 chr7:18886968-18886982 chr7:18889169-18889176 chr7:18882929-18882943 chr7:18886154-18886162 chr7:18889734-18889744 chr7:18885175-18885185
22	EP300	chr7:18885999-18886960	SK-N-SH	brain:	n/a	chr7:18886154-18886162
23	POLR2A	chr7:18886285-18886685	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr7:18886005-18886999	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr7:18885553-18886795	SH-SY5Y	brain:	n/a	chr7:18886496-18886512 chr7:18886501-18886508 chr7:18886499-18886509 chr7:18886501-18886508 chr7:18886736-18886746 chr7:18886500-18886508 chr7:18886499-18886508 chr7:18886501-18886508 chr7:18886494-18886515
26	TAF1	chr7:18886361-18886653	SK-N-SH	brain:	n/a	n/a
27	TEAD4	chr7:18886070-18886821	SK-N-SH	brain:	n/a	n/a
28	YY1	chr7:18886203-18886757	SK-N-SH_RA	brain:	n/a	n/a
29	POLR2A	chr7:18886083-18887034	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr7:18886158-18887112	SK-N-MC	brain:	n/a	n/a
31	GATA3	chr7:18885781-18886783	T-47D	breast:	n/a	chr7:18886496-18886512 chr7:18886501-18886508 chr7:18886499-18886509 chr7:18886501-18886508 chr7:18886736-18886746 chr7:18886500-18886508 chr7:18886499-18886508 chr7:18886501-18886508 chr7:18886494-18886515
32	REST	chr7:18886312-18886722	SK-N-SH	brain:	n/a	n/a
33	EP300	chr7:18886151-18886703	T-47D	breast:	n/a	chr7:18886154-18886162
34	JUND	chr7:18885974-18886734	T-47D	breast:	n/a	chr7:18886619-18886631
35	FOXA1	chr7:18886191-18886747	T-47D	breast:	n/a	n/a
36	ESR1	chr7:18886222-18886680	T-47D	breast:	n/a	n/a
37	GATA3	chr7:18885366-18887014	SK-N-SH	brain:	n/a	chr7:18886496-18886512 chr7:18886501-18886508 chr7:18886499-18886509 chr7:18886501-18886508 chr7:18886736-18886746 chr7:18886500-18886508 chr7:18886499-18886508 chr7:18886501-18886508 chr7:18886494-18886515
38	RXRA	chr7:18886164-18886942	SK-N-SH	brain:	n/a	chr7:18886784-18886798 chr7:18886798-18886811 chr7:18886798-18886811 chr7:18886797-18886813 chr7:18886798-18886811
39	KAP1	chr7:18886275-18886848	HEK293	kidney:	n/a	n/a
40	ESR1	chr7:18886175-18886688	T-47D	breast:	n/a	n/a
41	REST	chr7:18886182-18886735	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr7:18886091-18886822	SK-N-SH	brain:	n/a	n/a
43	GATA2	chr7:18885417-18887473	SH-SY5Y	brain:	n/a	chr7:18886496-18886512 chr7:18886501-18886508 chr7:18886499-18886509 chr7:18886501-18886508 chr7:18886736-18886746 chr7:18886499-18886508 chr7:18886501-18886508 chr7:18886494-18886515
44	NFIC	chr7:18886108-18886958	SK-N-SH	brain:	n/a	n/a
45	EP300	chr7:18886214-18887082	SK-N-SH	brain:	n/a	chr7:18886968-18886982
46	FOXM1	chr7:18886190-18886901	SK-N-SH	brain:	n/a	n/a
47	SIN3AK20	chr7:18886259-18886759	SK-N-SH	brain:	n/a	n/a
48	FOXP2	chr7:18886230-18886868	SK-N-MC	brain:	n/a	n/a
49	RAD21	chr7:18886144-18886834	SK-N-SH_RA	brain:	n/a	n/a
50	SIN3AK20	chr7:18886276-18886797	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:18882137..18885083-chr7:18886312..18888686,2	K562	blood:

Variant related genes	Relation type
HDAC9	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10228341	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10247184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10441039	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12056184	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12056282	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12113191	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs13230142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13234562	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17140086	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17140133	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34707237	0.87[ASN][1000 genomes]
rs35024729	0.82[ASN][1000 genomes]
rs35936891	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3852253	1.00[JPT][hapmap]
rs3852255	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs55885016	0.95[ASN][1000 genomes]
rs55930836	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs59593404	0.84[ASN][1000 genomes]
rs59618106	0.82[ASN][1000 genomes]
rs73312680	0.83[ASN][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	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18868800-18887400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:18875600-18888000	Weak transcription	Aorta	Aorta
3	chr7:18884000-18888800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:18884800-18887400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:18885400-18887600	Enhancers	NHDF-Ad	bronchial
6	chr7:18885600-18888400	Weak transcription	HUVEC	blood vessel
7	chr7:18885800-18887600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:18886000-18887000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:18886600-18886800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:18886600-18887000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:18886600-18887400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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