Variant report

Variant	rs7784933
Chromosome Location	chr7:100461565-100461566
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	MAFF	chr7:100461340-100461695	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:100461559-100461568	HUVEC	blood vessel:	n/a	n/a
3	MAFK	chr7:100461343-100461701	IMR90	lung:	n/a	n/a
4	HNF4A	chr7:100461221-100461598	HepG2	liver:	n/a	chr7:100461427-100461440 chr7:100461426-100461439 chr7:100461426-100461439
5	MAFF	chr7:100461327-100461687	K562	blood:	n/a	n/a
6	TEAD4	chr7:100461131-100461630	HepG2	liver:	n/a	n/a
7	HNF4G	chr7:100461232-100461690	HepG2	liver:	n/a	chr7:100461427-100461440 chr7:100461426-100461439 chr7:100461426-100461439
8	MAFK	chr7:100461337-100461706	HepG2	liver:	n/a	n/a
9	HDAC2	chr7:100461146-100461575	HepG2	liver:	n/a	n/a
10	MAFK	chr7:100461220-100461655	K562	blood:	n/a	n/a
11	MAFK	chr7:100461312-100461696	HepG2	liver:	n/a	n/a
12	HNF4G	chr7:100461235-100461644	HepG2	liver:	n/a	chr7:100461427-100461440 chr7:100461426-100461439 chr7:100461426-100461439
13	SP1	chr7:100461183-100461614	HepG2	liver:	n/a	n/a
14	HNF4A	chr7:100461232-100461586	HepG2	liver:	n/a	chr7:100461427-100461440 chr7:100461426-100461439 chr7:100461426-100461439

No.	Distal block	Cell Line	Cell type
1	chr7:100450060..100453457-chr7:100456779..100461941,7	MCF-7	breast:
2	chr7:100302295..100304999-chr7:100460489..100463924,4	MCF-7	breast:
3	chr7:100452503..100455139-chr7:100460474..100462515,2	K562	blood:

Variant related genes	Relation type
TRIP6	TF binding region
ENSG00000146828	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000236305	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12535629	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12538287	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075756	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3808356	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3847067	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4727468	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs56134000	0.80[EUR][1000 genomes]
rs6955197	0.94[ASN][1000 genomes]
rs7384255	0.93[ASN][1000 genomes]
rs7782299	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789085	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7794216	0.84[EUR][1000 genomes]
rs7800241	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7784933	TRRAP	cis	cerebellum	SCAN
rs7784933	FAM185A	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100451000-100463200	Weak transcription	HSMMtube	muscle
2	chr7:100451000-100464200	Weak transcription	Left Ventricle	heart
3	chr7:100451000-100464200	Weak transcription	Small Intestine	intestine
4	chr7:100451000-100464400	Weak transcription	Fetal Kidney	kidney
5	chr7:100451200-100463200	Weak transcription	A549	lung
6	chr7:100451200-100463200	Weak transcription	Hela-S3	cervix
7	chr7:100451200-100463200	Weak transcription	NHDF-Ad	bronchial
8	chr7:100451200-100463800	Weak transcription	Right Atrium	heart
9	chr7:100451200-100464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:100451400-100464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:100451800-100462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:100451800-100464200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:100452000-100463400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:100452000-100463600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:100452200-100461600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:100452200-100463000	Strong transcription	Lung	lung
17	chr7:100452200-100463400	Strong transcription	Fetal Stomach	stomach
18	chr7:100452200-100463600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:100452400-100461800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:100452400-100462400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:100452400-100463200	Weak transcription	Fetal Brain Male	brain
22	chr7:100452400-100464000	Weak transcription	GM12878-XiMat	blood
23	chr7:100452800-100463400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr7:100453000-100463200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr7:100453200-100461600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:100453200-100461800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:100453200-100463600	Strong transcription	Thymus	Thymus
28	chr7:100453200-100464200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:100453400-100463000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr7:100453400-100463000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:100454400-100463400	Strong transcription	Primary T cells from cord blood	blood
32	chr7:100454800-100464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:100455000-100463400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:100456200-100461600	Strong transcription	Esophagus	oesophagus
35	chr7:100456200-100463200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:100456200-100463400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:100456400-100461800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:100456400-100462000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:100456400-100462600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:100456400-100463400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:100456400-100464200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:100456600-100463000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:100456600-100463200	Strong transcription	Primary B cells from cord blood	blood
44	chr7:100457400-100461600	Strong transcription	Fetal Thymus	thymus
45	chr7:100457600-100461600	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr7:100457600-100461600	Strong transcription	NHLF	lung
47	chr7:100458000-100462000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:100458200-100463400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:100458600-100463000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:100458600-100463000	Weak transcription	Muscle Satellite Cultured Cells	--

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