Variant report

Variant	rs6951760
Chromosome Location	chr7:39796229-39796230
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	chr7:39795664..39798503-chr7:39801228..39803990,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11764732	0.90[JPT][hapmap]
rs12701761	0.83[ASN][1000 genomes]
rs13223212	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13228455	0.80[CEU][hapmap]
rs13233709	0.81[JPT][hapmap]
rs1548620	0.95[JPT][hapmap]
rs1859480	0.80[CEU][hapmap]
rs2329526	0.91[JPT][hapmap]
rs34917509	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4723900	0.84[EUR][1000 genomes]
rs6462942	0.80[CEU][hapmap]
rs6967563	0.80[CEU][hapmap]
rs7458148	0.91[JPT][hapmap]
rs7776621	0.80[CEU][hapmap]

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	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6951760	ANLN	cis	cerebellum	SCAN
rs6951760	FBLN2	trans	cerebellum	SCAN
rs6951760	CDK13	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39774200-39807400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:39774400-39797600	Weak transcription	Thymus	Thymus
3	chr7:39775800-39796400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:39775800-39807000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:39775800-39811200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:39776600-39820400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:39782400-39809000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:39784800-39802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
10	chr7:39789600-39807200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:39793400-39799800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:39793400-39802000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:39794000-39830800	Weak transcription	Pancreas	Pancrea
14	chr7:39794200-39797800	Weak transcription	Esophagus	oesophagus
15	chr7:39794200-39797800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:39794200-39799800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:39794200-39801200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:39794200-39820800	Weak transcription	Ovary	ovary
19	chr7:39794200-39837400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:39794600-39796400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:39794600-39796400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:39794600-39797000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:39794600-39797000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:39794600-39797000	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:39794600-39797600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:39794600-39797600	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:39794600-39797800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:39794600-39800800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:39794600-39808800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:39794600-39810200	Weak transcription	Fetal Stomach	stomach
31	chr7:39794600-39830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:39794800-39796400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:39794800-39796400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:39794800-39796400	Weak transcription	HMEC	breast
35	chr7:39794800-39796800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:39794800-39797400	Weak transcription	Brain Anterior Caudate	brain
37	chr7:39794800-39797400	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:39794800-39797800	Weak transcription	HSMMtube	muscle
39	chr7:39795000-39796600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:39795000-39797200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:39795000-39802600	Weak transcription	NHDF-Ad	bronchial
42	chr7:39795000-39802800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:39795200-39796800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:39795200-39797000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:39795200-39797600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:39795200-39802400	Weak transcription	NH-A	brain
47	chr7:39795200-39807400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:39795400-39797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:39795400-39797600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:39795400-39813000	Weak transcription	GM12878-XiMat	blood

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