Variant report

Variant	rs13107612
Chromosome Location	chr4:102739980-102739981
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	chr4:102739568..102742034-chr4:102748015..102750811,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10446682	0.81[ASN][1000 genomes]
rs10446708	0.81[ASN][1000 genomes]
rs10516487	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1125271	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11929782	0.81[ASN][1000 genomes]
rs11940179	0.81[ASN][1000 genomes]
rs13106926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13107572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13129744	0.96[EUR][1000 genomes]
rs13135381	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13136796	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1421627	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200433	0.81[ASN][1000 genomes]
rs17200824	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17266357	0.81[ASN][1000 genomes]
rs17266594	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2052445	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2080820	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34029191	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34749007	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34851381	0.81[ASN][1000 genomes]
rs35194352	0.81[ASN][1000 genomes]
rs35388091	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35416717	0.81[ASN][1000 genomes]
rs35748951	0.81[ASN][1000 genomes]
rs4637409	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4698969	0.81[ASN][1000 genomes]
rs4699261	0.81[ASN][1000 genomes]
rs55768089	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71597109	0.86[AMR][1000 genomes];0.99[EUR][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
rs13107612	BANK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102735800-102740000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:102737400-102744800	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr4:102738400-102740400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr4:102739400-102740200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:102739400-102740400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:102739400-102740400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:102739400-102740400	Enhancers	NH-A	brain
8	chr4:102739400-102741200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:102739400-102741200	Enhancers	HSMM	muscle
10	chr4:102739400-102741600	Enhancers	HSMMtube	muscle
11	chr4:102739600-102740000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:102739600-102740200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:102739800-102740200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:102739800-102740200	Enhancers	Osteobl	bone

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