Variant report

Variant	rs807485
Chromosome Location	chr19:36265508-36265509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:36265446-36265818	A549	lung:	n/a	n/a
2	POLR2A	chr19:36265083-36266581	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr19:36265260-36267670	SK-N-SH	brain:	n/a	chr19:36266480-36266495
4	E2F6	chr19:36265438-36266745	A549	lung:	n/a	chr19:36266321-36266336 chr19:36266489-36266499 chr19:36266211-36266220 chr19:36266443-36266453
5	POLR2A	chr19:36265232-36265643	K562	blood:	n/a	n/a
6	MAX	chr19:36265394-36267015	A549	lung:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
7	CEBPB	chr19:36265311-36265940	A549	lung:	n/a	n/a
8	CEBPB	chr19:36265490-36265798	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:36265473-36265911	K562	blood:	n/a	n/a
10	POLR2A	chr19:36265495-36266874	ECC-1	luminal epithelium:	n/a	n/a
11	CREB1	chr19:36265501-36266002	A549	lung:	n/a	n/a
12	CEBPB	chr19:36265487-36265786	K562	blood:	n/a	n/a
13	HCFC1	chr19:36265460-36266828	Hela-S3	cervix:	n/a	n/a
14	REST	chr19:36265488-36265873	A549	lung:	n/a	n/a
15	BCL3	chr19:36265316-36266349	A549	lung:	n/a	chr19:36266281-36266290 chr19:36266264-36266273

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36258097..36260654-chr19:36262475..36265649,5	MCF-7	breast:
2	chr19:36245255..36250047-chr19:36263979..36267864,8	K562	blood:
3	chr19:36247584..36253409-chr19:36264102..36268750,7	K562	blood:
4	chr19:36261311..36264277-chr19:36264706..36266602,2	MCF-7	breast:
5	chr19:35738434..35740432-chr19:36265157..36268131,2	MCF-7	breast:
6	chr19:36242461..36245033-chr19:36262811..36266302,4	K562	blood:
7	chr19:36234776..36236564-chr19:36265019..36266986,2	K562	blood:
8	chr19:36239350..36241235-chr19:36263074..36266129,3	MCF-7	breast:
9	chr19:36255893..36262036-chr19:36262850..36268803,8	MCF-7	breast:
10	chr19:36239474..36241411-chr19:36265453..36267969,2	K562	blood:
11	chr19:36207787..36211113-chr19:36265053..36268029,3	K562	blood:
12	chr19:36223600..36226210-chr19:36262533..36266105,3	K562	blood:
13	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
14	chr19:36208210..36211144-chr19:36264877..36267691,4	MCF-7	breast:
15	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267049	TF binding region
ARHGAP33	TF binding region
ENSG00000267796	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000267328	Chromatin interaction
ENSG00000267049	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000205155	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000167595	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs10401695	1.00[CHB][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap]
rs107068	0.81[GIH][hapmap]
rs120960	1.00[CEU][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs173003	0.85[GIH][hapmap]
rs2242522	0.81[GIH][hapmap]
rs231236	1.00[CEU][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs231238	0.81[GIH][hapmap]
rs231592	0.81[GIH][hapmap]
rs2619197	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3746272	1.00[CHB][hapmap]
rs807484	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
15	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs807485	FBXO27	cis	parietal	SCAN
rs807485	PHLDB3	cis	cerebellum	SCAN
rs807485	ZBTB32	cis	lung	GTEx
rs807485	COX6B1	trans	parietal	SCAN
rs807485	ZBTB32	cis	Thyroid	GTEx
rs807485	RN7SL765P	cis	Muscle Skeletal	GTEx
rs807485	ZBTB32	cis	Nerve Tibial	GTEx
rs807485	COX6B1	cis	Muscle Skeletal	GTEx
rs807485	COX6B1	trans	cerebellum	SCAN
rs807485	AC002398.13	cis	Thyroid	GTEx
rs807485	UPK1A	trans	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36249800-36265600	Weak transcription	Right Atrium	heart
2	chr19:36249800-36265800	Weak transcription	Fetal Kidney	kidney
3	chr19:36250000-36265600	Weak transcription	Brain Substantia Nigra	brain
4	chr19:36250400-36265600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:36250400-36265600	Weak transcription	Psoas Muscle	Psoas
6	chr19:36250400-36265800	Weak transcription	Small Intestine	intestine
7	chr19:36250400-36266000	Weak transcription	Aorta	Aorta
8	chr19:36250800-36265600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:36251000-36265600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:36251000-36265600	Weak transcription	Fetal Brain Male	brain
11	chr19:36251000-36265800	Weak transcription	HUVEC	blood vessel
12	chr19:36251000-36266000	Weak transcription	HSMM	muscle
13	chr19:36251400-36265600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:36252000-36265600	Weak transcription	NHDF-Ad	bronchial
15	chr19:36253200-36266000	Weak transcription	HSMMtube	muscle
16	chr19:36253400-36265600	Weak transcription	Hela-S3	cervix
17	chr19:36253400-36265600	Weak transcription	NH-A	brain
18	chr19:36253600-36265600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:36256200-36265600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:36256200-36265600	Weak transcription	Left Ventricle	heart
21	chr19:36256200-36265800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:36256200-36265800	Weak transcription	GM12878-XiMat	blood
23	chr19:36256200-36266000	Weak transcription	Liver	Liver
24	chr19:36256400-36265600	Weak transcription	Brain Hippocampus Middle	brain
25	chr19:36256400-36265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:36256400-36265600	Weak transcription	NHEK	skin
27	chr19:36257000-36265600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr19:36257400-36266000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr19:36258400-36265600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:36258600-36265600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr19:36258600-36265600	Weak transcription	Esophagus	oesophagus
32	chr19:36258800-36266000	Weak transcription	Gastric	stomach
33	chr19:36259400-36265800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:36259400-36265800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr19:36259600-36265600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:36259600-36265600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:36260000-36265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:36260000-36265600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:36260000-36265600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:36260000-36265600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:36260000-36265600	Weak transcription	Fetal Intestine Small	intestine
42	chr19:36260000-36265600	Weak transcription	Lung	lung
43	chr19:36260000-36265600	Weak transcription	Pancreas	Pancrea
44	chr19:36260000-36265600	Weak transcription	Spleen	Spleen
45	chr19:36260000-36265800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:36260000-36266000	Weak transcription	NHLF	lung
47	chr19:36260200-36265600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr19:36260200-36265600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr19:36260200-36265600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:36260200-36265600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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