Variant report

Variant	rs62367725
Chromosome Location	chr5:43026295-43026296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43014475..43016471-chr5:43023730..43026437,2	K562	blood:
2	chr5:43024503..43027034-chr5:43047989..43050249,2	K562	blood:
3	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
4	chr5:43024225..43027639-chr5:43033975..43036127,3	K562	blood:
5	chr5:43008745..43011043-chr5:43025523..43027908,2	K562	blood:
6	chr5:43026063..43028534-chr5:43065548..43067073,2	MCF-7	breast:
7	chr5:43025442..43029436-chr5:43032805..43035961,3	K562	blood:

Variant related genes	Relation type
ENSG00000177721	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000272382	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11748821	0.81[ASN][1000 genomes]
rs12189115	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
11	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
12	nsv881640	chr5:42978644-43028221	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
13	nsv880415	chr5:42978644-43030798	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62367725	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43020200-43034800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:43020800-43030000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:43020800-43033600	Weak transcription	NH-A	brain
4	chr5:43020800-43033800	Weak transcription	NHLF	lung
5	chr5:43020800-43034000	Weak transcription	Pancreas	Pancrea
6	chr5:43020800-43034200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:43020800-43034400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:43020800-43037400	Weak transcription	HSMM	muscle
9	chr5:43020800-43038400	Weak transcription	Spleen	Spleen
10	chr5:43021000-43029000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:43021000-43030400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:43021000-43032600	Weak transcription	HUVEC	blood vessel
13	chr5:43021200-43038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:43021400-43034400	Weak transcription	Primary B cells from cord blood	blood
15	chr5:43021600-43034200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:43021600-43034400	Weak transcription	NHDF-Ad	bronchial
17	chr5:43021600-43034600	Weak transcription	Hela-S3	cervix
18	chr5:43021800-43029000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:43021800-43029000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:43021800-43029200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:43021800-43029200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:43021800-43030400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:43021800-43034400	Weak transcription	Dnd41	blood
24	chr5:43021800-43034600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:43022000-43027000	Weak transcription	HepG2	liver
26	chr5:43022000-43027600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:43022000-43036400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:43022400-43028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:43022400-43029000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:43025400-43026600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr5:43026200-43026600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:43026200-43029600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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