Variant report

Variant	rs9321367
Chromosome Location	chr6:133084359-133084360
allele	G/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	ELF1	chr6:133084298-133084868	GM12878	blood:	n/a	chr6:133084609-133084620 chr6:133084607-133084620
2	SPI1	chr6:133084178-133084837	GM12878	blood:	n/a	chr6:133084608-133084621 chr6:133084609-133084618
3	POLR2A	chr6:133084339-133084745	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133054047..133059196-chr6:133082600..133087082,5	MCF-7	breast:
2	chr6:133082471..133084490-chr6:133097635..133100360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271488	TF binding region
ENSG00000093134	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10457591	1.00[CHB][hapmap]
rs10457596	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10484629	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11154693	1.00[CHB][hapmap]
rs1128998	1.00[CHB][hapmap]
rs11962883	0.94[ASN][1000 genomes]
rs11964512	1.00[ASN][1000 genomes]
rs12190684	1.00[CHB][hapmap]
rs12194625	1.00[CHB][hapmap]
rs12197430	1.00[CHB][hapmap]
rs12198849	0.83[ASN][1000 genomes]
rs12203977	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12204027	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12211701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13203382	1.00[CHB][hapmap]
rs13204496	1.00[CHB][hapmap]
rs13208524	1.00[CHB][hapmap]
rs13211436	1.00[CHB][hapmap]
rs1467403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1467404	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3813347	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs58832890	0.91[ASN][1000 genomes]
rs61421874	0.91[ASN][1000 genomes]
rs62424539	0.83[ASN][1000 genomes]
rs6569847	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6569848	1.00[ASN][1000 genomes]
rs6910639	0.81[ASN][1000 genomes]
rs6912936	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6915168	0.91[ASN][1000 genomes]
rs6934161	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs73554431	0.91[ASN][1000 genomes]
rs767148	1.00[CHB][hapmap]
rs7738071	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7738400	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7758703	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7761365	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7765224	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7769051	0.89[ASN][1000 genomes]
rs7770081	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9321365	1.00[CHB][hapmap]
rs9321371	0.84[ASN][1000 genomes]
rs9375919	1.00[CHB][hapmap]
rs9389032	1.00[CHB][hapmap]
rs9389033	1.00[CHB][hapmap]
rs9399041	1.00[ASN][1000 genomes]
rs9402452	1.00[CHB][hapmap]
rs9402453	1.00[CHB][hapmap]
rs9402455	1.00[CHB][hapmap]
rs9483497	1.00[CHB][hapmap]
rs9493435	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9493436	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9493437	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9493438	1.00[ASN][1000 genomes]
rs9493443	0.91[ASN][1000 genomes]
rs9493444	0.91[ASN][1000 genomes]
rs9493445	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9493446	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9493454	0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9321367	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133061400-133098000	Weak transcription	Spleen	Spleen
2	chr6:133065000-133098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:133072800-133084400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:133072800-133084800	Weak transcription	Stomach Mucosa	stomach
5	chr6:133079000-133084800	Weak transcription	Liver	Liver
6	chr6:133079000-133085000	Weak transcription	A549	lung
7	chr6:133080400-133085000	Weak transcription	Adipose Nuclei	Adipose
8	chr6:133080400-133085200	Weak transcription	Right Atrium	heart
9	chr6:133081400-133084600	Weak transcription	Fetal Stomach	stomach
10	chr6:133081400-133096800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:133081600-133084400	Weak transcription	Placenta	Placenta
12	chr6:133081800-133086800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:133083200-133084400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:133083200-133085000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr6:133083200-133085000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:133083200-133085400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:133083200-133085800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr6:133083200-133086000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:133083200-133086600	Enhancers	Fetal Intestine Large	intestine
20	chr6:133083400-133084400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:133083400-133084800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:133083400-133090600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:133083600-133084400	Active TSS	Thymus	Thymus
24	chr6:133083600-133084600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr6:133083600-133084600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr6:133083600-133084600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:133083600-133084800	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr6:133083600-133084800	Enhancers	Primary hematopoietic stem cells	blood
29	chr6:133083600-133084800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr6:133083600-133085200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:133083600-133085200	Weak transcription	Aorta	Aorta
32	chr6:133083600-133099000	Weak transcription	Left Ventricle	heart
33	chr6:133083800-133084600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:133083800-133084600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr6:133083800-133084800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr6:133083800-133084800	Enhancers	Dnd41	blood
37	chr6:133083800-133085000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:133083800-133118200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:133084000-133084400	Active TSS	Primary T cells fromperipheralblood	blood
40	chr6:133084000-133084600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:133084000-133084600	Active TSS	GM12878-XiMat	blood
42	chr6:133084000-133084800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr6:133084000-133084800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr6:133084000-133084800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:133084000-133089000	Weak transcription	Fetal Intestine Small	intestine
46	chr6:133084200-133084600	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr6:133084200-133084800	Enhancers	Fetal Thymus	thymus
48	chr6:133084200-133085000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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