Variant report

Variant	rs188567
Chromosome Location	chr6:25113207-25113208
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	CEBPB	chr6:25112171-25113249	Hela-S3	cervix:	n/a	chr6:25112734-25112746 chr6:25112253-25112264

No.	Distal block	Cell Line	Cell type
1	chr6:25112288..25113816-chr6:25114376..25117367,2	MCF-7	breast:
2	chr6:25111673..25113955-chr6:25164740..25166276,2	MCF-7	breast:
3	chr6:25110856..25114923-chr6:25121965..25124614,3	MCF-7	breast:

Variant related genes	Relation type
CMAHP	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs182499	0.86[ASN][1000 genomes]
rs1996971	1.00[CHB][hapmap]
rs28539031	1.00[ASN][1000 genomes]
rs302972	0.88[AFR][1000 genomes]
rs302981	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302985	0.89[EUR][1000 genomes]
rs303003	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs303005	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs303010	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs303011	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs303012	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs416030	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55851821	1.00[ASN][1000 genomes]
rs6902503	0.90[YRI][hapmap]
rs6908916	1.00[ASN][1000 genomes]
rs6918771	1.00[CHB][hapmap]
rs6939460	1.00[CHB][hapmap]
rs6939764	1.00[CHB][hapmap]
rs6941305	0.90[YRI][hapmap]
rs73386265	1.00[ASN][1000 genomes]
rs7740534	0.86[EUR][1000 genomes]
rs9461103	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9654578	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	43 gene(s)	inside rSNPs	diseases
4	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv830611	chr6:25039374-25199112	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv470806	chr6:25082262-25156197	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv462662	chr6:25084718-25165486	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv601166	chr6:25084718-25165486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs188567	CMAH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25084800-25113800	Weak transcription	Gastric	stomach
2	chr6:25087400-25113800	Strong transcription	Fetal Thymus	thymus
3	chr6:25087600-25124800	Weak transcription	Small Intestine	intestine
4	chr6:25088400-25113800	Strong transcription	Dnd41	blood
5	chr6:25091600-25116000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:25091800-25127800	Weak transcription	Esophagus	oesophagus
7	chr6:25096000-25116000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:25096400-25118200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:25099000-25116200	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:25099000-25117400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:25101400-25115800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:25102000-25116200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr6:25102800-25117600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:25103200-25116000	Strong transcription	Primary hematopoietic stem cells	blood
15	chr6:25103200-25116000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:25103400-25116000	Strong transcription	Primary T cells from cord blood	blood
17	chr6:25103600-25116000	Strong transcription	HSMMtube	muscle
18	chr6:25103800-25134800	Weak transcription	Psoas Muscle	Psoas
19	chr6:25104800-25136800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:25105200-25116000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:25105600-25115600	Weak transcription	Pancreas	Pancrea
22	chr6:25105600-25116000	Strong transcription	Placenta	Placenta
23	chr6:25105800-25115000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:25105800-25115000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:25106000-25115600	Weak transcription	Right Ventricle	heart
26	chr6:25106000-25119800	Weak transcription	Fetal Intestine Small	intestine
27	chr6:25106400-25122200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:25107200-25122200	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:25108600-25116000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr6:25108800-25113600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:25108800-25113800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:25108800-25116400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:25108800-25122000	Weak transcription	Colonic Mucosa	Colon
34	chr6:25108800-25125800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:25109000-25113800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:25109000-25113800	Weak transcription	HSMM	muscle
37	chr6:25109600-25114600	Strong transcription	GM12878-XiMat	blood
38	chr6:25110200-25123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:25110400-25122800	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:25110800-25113600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:25110800-25113600	Weak transcription	Left Ventricle	heart
42	chr6:25110800-25113800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:25110800-25114200	Weak transcription	Ovary	ovary
44	chr6:25110800-25133400	Weak transcription	Aorta	Aorta
45	chr6:25111000-25114600	Enhancers	Hela-S3	cervix
46	chr6:25111000-25116000	Strong transcription	Primary B cells from cord blood	blood
47	chr6:25111600-25113400	Genic enhancers	Rectal Mucosa Donor 31	rectum
48	chr6:25111600-25114800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr6:25111800-25113400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:25112000-25113400	Enhancers	Primary neutrophils fromperipheralblood	blood

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