Variant report

Variant	rs2132694
Chromosome Location	chr4:101902306-101902307
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	chr4:101897670..101899560-chr4:101901364..101903543,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62308974	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72927358	0.92[EUR][1000 genomes]
rs955026	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2132694	BANK1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101896800-101906000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:101896800-101906400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:101897000-101902600	Weak transcription	Right Atrium	heart
4	chr4:101897000-101902800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:101897200-101902800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:101897200-101906200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:101897400-101903600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:101898800-101902800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:101898800-101907600	Weak transcription	Left Ventricle	heart
10	chr4:101899400-101902600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:101899400-101902600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:101899400-101902600	Weak transcription	HMEC	breast
13	chr4:101899600-101902600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:101899800-101902400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:101899800-101902600	Weak transcription	Adipose Nuclei	Adipose
16	chr4:101899800-101902600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:101901200-101902400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:101901200-101902600	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:101901200-101902800	Weak transcription	Fetal Stomach	stomach
20	chr4:101901800-101903000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:101901800-101903800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:101902000-101902600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr4:101902000-101902600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:101902000-101903800	Enhancers	Primary monocytes fromperipheralblood	blood

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