Variant report

Variant	rs62459295
Chromosome Location	chr7:56164898-56164899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:56164871-56164940	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56158331..56162402-chr7:56164304..56169225,5	K562	blood:
2	chr7:56164247..56165882-chr7:56165914..56168831,2	MCF-7	breast:
3	chr7:56162975..56165763-chr7:56166272..56169113,5	K562	blood:
4	chr7:56151701..56153394-chr7:56164014..56165799,2	K562	blood:

Variant related genes	Relation type
PHKG1	TF binding region
ENSG00000238673	TF binding region
ENSG00000238673	Chromatin interaction
ENSG00000164776	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10243470	1.00[ASN][1000 genomes]
rs10259644	1.00[ASN][1000 genomes]
rs10263749	1.00[ASN][1000 genomes]
rs13231859	1.00[ASN][1000 genomes]
rs34564388	1.00[ASN][1000 genomes]
rs36065492	1.00[ASN][1000 genomes]
rs62457264	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs62459310	1.00[ASN][1000 genomes]
rs62460083	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62460096	1.00[ASN][1000 genomes]
rs955815	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56134000-56167800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:56134200-56167600	Weak transcription	Small Intestine	intestine
3	chr7:56138800-56167600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:56142000-56168000	Weak transcription	GM12878-XiMat	blood
5	chr7:56142200-56167800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:56146000-56167800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:56147000-56167400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:56147400-56167000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:56147400-56169800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:56147600-56167200	Weak transcription	HMEC	breast
11	chr7:56147600-56167400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:56147800-56167200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:56147800-56167400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:56148000-56165600	Weak transcription	Primary B cells from cord blood	blood
15	chr7:56148000-56167200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:56148800-56167400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:56149600-56167200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:56149800-56167600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:56149800-56168000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:56150000-56166200	Weak transcription	Fetal Thymus	thymus
21	chr7:56150000-56166400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:56152000-56167400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:56155600-56165200	Weak transcription	Thymus	Thymus
24	chr7:56155600-56166000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:56155600-56167200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:56155600-56167400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:56155600-56167600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:56155800-56165400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:56155800-56167000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:56156000-56166200	Weak transcription	Fetal Intestine Large	intestine
31	chr7:56156800-56165200	Weak transcription	Fetal Brain Female	brain
32	chr7:56156800-56167000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:56156800-56167400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:56157000-56165400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:56157200-56165000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:56157800-56167600	Weak transcription	K562	blood
37	chr7:56158200-56173200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:56158400-56167000	Weak transcription	Primary T cells from cord blood	blood
39	chr7:56159600-56168200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:56160600-56165400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:56160600-56167400	Weak transcription	Aorta	Aorta
42	chr7:56160600-56167600	Weak transcription	Psoas Muscle	Psoas
43	chr7:56160800-56167000	Weak transcription	A549	lung
44	chr7:56160800-56170400	Weak transcription	Fetal Brain Male	brain
45	chr7:56161000-56165200	Weak transcription	Hela-S3	cervix
46	chr7:56161000-56165400	Weak transcription	NHLF	lung
47	chr7:56161000-56165400	Weak transcription	Osteobl	bone
48	chr7:56161000-56167000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:56161000-56167200	Weak transcription	HSMMtube	muscle
50	chr7:56161000-56167200	Weak transcription	NHEK	skin

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