Variant report

Variant	rs7769966
Chromosome Location	chr6:45626855-45626856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45626348..45629264-chr6:45676046..45679012,2	MCF-7	breast:
2	chr6:45624715..45626390-chr6:45626802..45629666,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10948245	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs12524499	0.89[ASN][1000 genomes]
rs12661654	0.83[CHB][hapmap]
rs12663985	0.87[CHB][hapmap]
rs12665728	0.83[ASN][1000 genomes]
rs16873629	0.88[ASN][1000 genomes]
rs1932040	0.81[CEU][hapmap]
rs1994682	0.87[CHB][hapmap]
rs28579170	0.86[ASN][1000 genomes]
rs4714863	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6458457	0.83[ASN][1000 genomes]
rs7752609	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7762915	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs9349322	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9349323	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9369568	0.89[ASN][1000 genomes]
rs9369569	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9395112	0.81[TSI][hapmap]
rs9472541	0.91[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7769966	CAPN11	cis	parietal	SCAN
rs7769966	TTBK1	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45617400-45627400	Enhancers	NHDF-Ad	bronchial
2	chr6:45617800-45627200	Enhancers	NHLF	lung
3	chr6:45618200-45627200	Weak transcription	Gastric	stomach
4	chr6:45618800-45627200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:45624400-45627400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:45625400-45627400	Enhancers	Dnd41	blood
7	chr6:45625600-45627000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:45625800-45627200	Enhancers	Fetal Brain Male	brain
9	chr6:45625800-45627400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:45626000-45627200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:45626000-45627200	Enhancers	HSMM	muscle
12	chr6:45626000-45627400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:45626200-45627400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:45626200-45628200	Enhancers	Primary T cells from cord blood	blood
15	chr6:45626200-45629000	Weak transcription	NH-A	brain
16	chr6:45626200-45632600	Weak transcription	HSMMtube	muscle
17	chr6:45626400-45629200	Weak transcription	Osteobl	bone
18	chr6:45626600-45627200	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:45626600-45627200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:45626600-45627200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:45626600-45627200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:45626600-45627200	Enhancers	Fetal Thymus	thymus
23	chr6:45626600-45627400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:45626600-45627400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:45626600-45627400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:45626600-45631400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:45626800-45627000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:45626800-45627000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:45626800-45627000	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
30	chr6:45626800-45627200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:45626800-45627200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:45626800-45627200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:45626800-45629000	Weak transcription	Muscle Satellite Cultured Cells	--

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