Variant report

Variant	rs12469537
Chromosome Location	chr2:173413146-173413147
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	chr2:173411388..173414251-chr2:173417353..173419671,2	K562	blood:
2	chr2:173412254..173414013-chr2:173419103..173420729,2	K562	blood:

Variant related genes	Relation type
ENSG00000152256	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10174809	0.84[AFR][1000 genomes]
rs12052479	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13398175	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1574257	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34871211	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35022330	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4075604	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55966259	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56832945	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61194385	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6730763	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173392600-173419600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:173399600-173414400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:173408800-173413800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr2:173410000-173418800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:173410600-173413400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr2:173410600-173413600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:173410600-173417000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:173410800-173413600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr2:173410800-173418000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:173410800-173418800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:173411000-173413600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:173411000-173414000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:173411000-173419600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:173411400-173417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:173412000-173413800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr2:173412000-173414400	ZNF genes & repeats	GM12878-XiMat	blood
17	chr2:173412200-173413200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr2:173412800-173415800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:173413000-173413400	Enhancers	Placenta	Placenta
20	chr2:173413000-173413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:173413000-173413800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:173413000-173413800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:173413000-173414200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:173413000-173415800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:173413000-173417400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:173413000-173419400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:173413000-173419600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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