Variant report

Variant	rs10956185
Chromosome Location	chr8:125485728-125485729
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr8:125485176-125489186	Hela-S3	cervix:	n/a	n/a
2	MYC	chr8:125485257-125487115	MCF10A-Er-Src	breast:	n/a	chr8:125487056-125487066 chr8:125486876-125486885
3	POLR2A	chr8:125485124-125488693	MCF10A-Er-Src	breast:	n/a	n/a
4	ARID3A	chr8:125485691-125487043	K562	blood:	n/a	n/a
5	POLR2A	chr8:125485665-125487935	K562	blood:	n/a	n/a
6	POLR2A	chr8:125485210-125488989	MCF10A-Er-Src	breast:	n/a	n/a
7	BRCA1	chr8:125485590-125487195	Hela-S3	cervix:	n/a	n/a
8	NR2F2	chr8:125485714-125487284	K562	blood:	n/a	n/a
9	IRF1	chr8:125484564-125487209	K562	blood:	n/a	chr8:125486200-125486214 chr8:125487107-125487121 chr8:125484776-125484797 chr8:125487110-125487120
10	POLR2A	chr8:125485202-125488998	PBDE	blood:	n/a	n/a
11	GATA1	chr8:125485423-125488064	PBDE	blood:	n/a	n/a
12	MYC	chr8:125485653-125488054	MCF10A-Er-Src	breast:	n/a	chr8:125487056-125487066 chr8:125486876-125486885 chr8:125487912-125487921
13	POLR2A	chr8:125478436-125489342	K562	blood:	n/a	n/a
14	TBP	chr8:125485370-125487107	Hela-S3	cervix:	n/a	n/a
15	IRF1	chr8:125484500-125487223	K562	blood:	n/a	chr8:125486200-125486214 chr8:125487107-125487121 chr8:125484776-125484797 chr8:125487110-125487120

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
2	chr8:125459763..125466594-chr8:125480347..125488760,16	K562	blood:
3	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
4	chr8:125485694..125488622-chr8:125558773..125560275,2	MCF-7	breast:
5	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
6	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
7	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
8	chr8:124558050..124560805-chr8:125484658..125486261,2	MCF-7	breast:
9	chr8:125485539..125488439-chr8:125531952..125535064,5	MCF-7	breast:
10	chr1:116914305..116915883-chr8:125485608..125487551,2	MCF-7	breast:
11	chr8:125484977..125488762-chr8:125516872..125524765,8	MCF-7	breast:
12	chr3:49202004..49204374-chr8:125485548..125487898,2	MCF-7	breast:
13	chr8:125484436..125485979-chr8:125524895..125526411,2	MCF-7	breast:
14	chr8:125484651..125486969-chr8:125535041..125537083,3	K562	blood:
15	chr8:125484298..125489708-chr8:125549185..125553061,9	MCF-7	breast:
16	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
17	chr10:76993820..76995624-chr8:125485040..125487047,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN1-1	chr8:125485051-125486817	ENSG00000245149
2	lnc-TATDN1-1	chr8:125485343-125485819	NONHSAT128584
3	lnc-TATDN1-1	chr8:125484548-125487007	NONHSAT128586

No data

Variant related genes	Relation type
RNF139	TF binding region
ENSG00000183665	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000163399	Chromatin interaction
ENSG00000177352	Chromatin interaction
ENSG00000165644	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10956184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956189	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];0.80[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11556913	0.92[ASN][1000 genomes]
rs12542260	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[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];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12544211	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12544621	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12545267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12546906	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12548836	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[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];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12550707	0.83[EUR][1000 genomes]
rs12550827	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28576577	1.00[LWK][hapmap]
rs4128469	0.88[CEU][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4512366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4551335	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602869	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4870898	0.82[EUR][1000 genomes]
rs5004281	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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56942034	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57941917	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62527880	0.82[EUR][1000 genomes]
rs62527883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62527884	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62527886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62527901	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62527908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62527910	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6987213	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6987358	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7009847	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72713049	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7826104	0.81[EUR][1000 genomes]
rs7830325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7834203	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7836802	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7845008	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[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[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10956185	TRMT12	cis	Whole Blood	GTEx
rs10956185	ZHX2	cis	cerebellum	SCAN
rs10956185	TRIB1	cis	parietal	SCAN
rs10956185	ZHX2	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125464600-125485800	Weak transcription	Esophagus	oesophagus
2	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125477600-125485800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:125478600-125486000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:125483800-125486200	Enhancers	Spleen	Spleen
6	chr8:125484000-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:125484200-125485800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:125484200-125488600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:125484200-125488600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:125484200-125488800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:125484200-125488800	Active TSS	HSMM	muscle
12	chr8:125484200-125489200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:125484200-125489400	Active TSS	K562	blood
14	chr8:125484400-125485800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:125484400-125485800	Flanking Active TSS	HUVEC	blood vessel
16	chr8:125484400-125486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:125484400-125486000	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr8:125484400-125486200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:125484400-125488400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr8:125484400-125488800	Active TSS	NHLF	lung
21	chr8:125484400-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:125484400-125489600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:125484600-125485800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:125484600-125485800	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr8:125484600-125486000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:125484600-125486000	Flanking Active TSS	Dnd41	blood
27	chr8:125484600-125486200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:125484600-125486800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr8:125484600-125487600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:125484600-125488600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr8:125484600-125488600	Active TSS	NHDF-Ad	bronchial
32	chr8:125484600-125489200	Active TSS	Right Ventricle	heart
33	chr8:125484800-125485800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:125484800-125486800	Active TSS	Right Atrium	heart
35	chr8:125484800-125488400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:125484800-125488400	Active TSS	HSMMtube	muscle
37	chr8:125484800-125488400	Active TSS	NH-A	brain
38	chr8:125484800-125489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:125484800-125489200	Active TSS	Aorta	Aorta
40	chr8:125484800-125489200	Active TSS	Ovary	ovary
41	chr8:125484800-125489200	Active TSS	A549	lung
42	chr8:125484800-125489400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr8:125484800-125489400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr8:125484800-125489400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr8:125484800-125490200	Active TSS	GM12878-XiMat	blood
46	chr8:125485000-125485800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:125485000-125485800	Active TSS	HepG2	liver
48	chr8:125485000-125486000	Weak transcription	Pancreas	Pancrea
49	chr8:125485000-125486200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr8:125485000-125487800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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