Variant report

Variant	rs13129744
Chromosome Location	chr4:102756731-102756732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102756033..102758603-chr4:102759128..102761662,3	MCF-7	breast:
2	chr4:102755518..102758333-chr4:102759339..102760873,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10516487	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125271	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13106926	0.96[EUR][1000 genomes]
rs13107572	0.96[EUR][1000 genomes]
rs13107612	0.96[EUR][1000 genomes]
rs13124747	0.84[AMR][1000 genomes]
rs13131198	0.84[AMR][1000 genomes]
rs13135381	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136118	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13136796	0.96[EUR][1000 genomes]
rs13146194	0.80[AMR][1000 genomes]
rs13152198	0.84[AMR][1000 genomes]
rs1421627	0.95[EUR][1000 genomes]
rs17200824	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17266552	0.84[AMR][1000 genomes]
rs17266594	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052445	0.96[EUR][1000 genomes]
rs2080820	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34029191	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34749007	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35388091	0.96[EUR][1000 genomes]
rs35446399	0.81[AMR][1000 genomes]
rs4637409	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699259	0.80[AMR][1000 genomes]
rs4699260	0.80[AMR][1000 genomes]
rs4699262	0.80[AMR][1000 genomes]
rs55768089	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71597109	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997690	chr4:102397296-102758125	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv537201	chr4:102397296-102758125	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv879681	chr4:102641265-102769677	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13129744	BANK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102752600-102763800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:102756000-102757400	Strong transcription	Primary B cells from cord blood	blood
3	chr4:102756200-102756800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:102756200-102757000	Flanking Active TSS	A549	lung
5	chr4:102756200-102757200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:102756200-102757200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:102756200-102757200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:102756400-102756800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:102756400-102756800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:102756400-102756800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr4:102756400-102756800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr4:102756400-102756800	Flanking Active TSS	Osteobl	bone
13	chr4:102756400-102757000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:102756400-102757000	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr4:102756400-102757000	Enhancers	Esophagus	oesophagus
16	chr4:102756400-102757000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr4:102756400-102757000	Enhancers	HMEC	breast
18	chr4:102756400-102757000	Enhancers	HSMM	muscle
19	chr4:102756400-102757000	Enhancers	NHEK	skin
20	chr4:102756400-102757200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:102756400-102757200	Enhancers	Hela-S3	cervix
22	chr4:102756400-102757200	Enhancers	NH-A	brain
23	chr4:102756600-102756800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:102756600-102757000	Enhancers	Brain Anterior Caudate	brain
25	chr4:102756600-102757000	Active TSS	NHDF-Ad	bronchial
26	chr4:102756600-102757200	Enhancers	Stomach Mucosa	stomach

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