Variant report

Variant	rs6912082
Chromosome Location	chr6:119098052-119098053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119018340..119019295-chr6:119097391..119098460,8	MCF-7	breast:
2	chr6:118604989..118605598-chr6:119097517..119098373,3	K562	blood:
3	chr6:119090089..119093226-chr6:119095000..119099014,4	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1022707	0.84[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs1022708	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs11153782	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs1885125	0.84[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap]
rs2145569	0.84[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap]
rs4946372	0.84[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap]
rs4946373	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs4946382	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs6904381	0.84[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap]
rs6910850	0.83[JPT][hapmap]
rs6912762	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6918844	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs6939937	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs7381535	0.84[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap]
rs7743045	0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7754916	0.81[ASN][1000 genomes]
rs902780	0.83[ASN][1000 genomes]
rs9320671	0.84[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap]
rs9387621	0.84[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs9401106	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs988098	0.80[CHD][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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
8	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv886568	chr6:119044453-119132164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv886569	chr6:119055873-119132164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3333814	chr6:119078525-119100108	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6912082	ROS1	cis	parietal	SCAN
rs6912082	BET3L	cis	cerebellum	SCAN
rs6912082	MCM9	cis	lymphoblastoid	seeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119095200-119105800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:119095600-119102000	Weak transcription	Placenta	Placenta
3	chr6:119097000-119098200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:119097400-119098400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:119097400-119099000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:119097400-119099800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:119097400-119099800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:119097600-119098400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:119097600-119098400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:119097600-119098800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr6:119097600-119098800	Enhancers	Dnd41	blood
12	chr6:119097600-119098800	Enhancers	Osteobl	bone
13	chr6:119097600-119099000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:119097600-119099000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr6:119097600-119099400	Enhancers	Primary T cells from cord blood	blood
16	chr6:119097600-119099400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:119097600-119099800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:119097600-119100000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:119097600-119100200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:119097800-119098400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:119097800-119098400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr6:119097800-119098800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:119097800-119099000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:119098000-119098200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:119098000-119098200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:119098000-119098200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:119098000-119098200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:119098000-119098200	Enhancers	Brain Anterior Caudate	brain
29	chr6:119098000-119098200	Enhancers	Brain Substantia Nigra	brain
30	chr6:119098000-119098200	Enhancers	Right Atrium	heart
31	chr6:119098000-119098200	Active TSS	Hela-S3	cervix
32	chr6:119098000-119098400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:119098000-119098400	Enhancers	Liver	Liver
34	chr6:119098000-119098400	Enhancers	Fetal Heart	heart
35	chr6:119098000-119098400	Enhancers	Fetal Muscle Leg	muscle
36	chr6:119098000-119098400	Enhancers	Ovary	ovary
37	chr6:119098000-119098400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr6:119098000-119098400	Enhancers	Stomach Mucosa	stomach
39	chr6:119098000-119098600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:119098000-119098600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:119098000-119098600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:119098000-119098600	Enhancers	Left Ventricle	heart
43	chr6:119098000-119098600	Flanking Active TSS	HMEC	breast
44	chr6:119098000-119098600	Enhancers	HSMM	muscle
45	chr6:119098000-119098600	Enhancers	NH-A	brain
46	chr6:119098000-119098800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:119098000-119098800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:119098000-119098800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:119098000-119098800	Enhancers	Adipose Nuclei	Adipose
50	chr6:119098000-119098800	Enhancers	Fetal Thymus	thymus

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