Variant report

Variant	rs807478
Chromosome Location	chr19:36252494-36252495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36248580..36254743-chr19:36274692..36280659,6	K562	blood:
2	chr19:36251835..36255945-chr19:36256071..36258525,4	K562	blood:
3	chr19:36252030..36254335-chr19:36255170..36257529,2	MCF-7	breast:
4	chr19:36247584..36253409-chr19:36264102..36268750,7	K562	blood:

Variant related genes	Relation type
ENSG00000167595	Chromatin interaction
ENSG00000004777	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs107068	0.86[EUR][1000 genomes]
rs1269214	0.82[EUR][1000 genomes]
rs173003	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs179570	0.89[EUR][1000 genomes]
rs2242522	0.82[EUR][1000 genomes]
rs231238	0.88[EUR][1000 genomes]
rs231244	0.88[EUR][1000 genomes]
rs231588	0.82[EUR][1000 genomes]
rs231591	0.85[EUR][1000 genomes]
rs231592	0.86[EUR][1000 genomes]
rs55939240	0.81[EUR][1000 genomes]
rs61218414	0.81[EUR][1000 genomes]
rs614225	0.82[EUR][1000 genomes]
rs807479	0.89[EUR][1000 genomes]
rs9917056	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs807478	ZBTB32	cis	Nerve Tibial	GTEx
rs807478	RN7SL765P	cis	Muscle Skeletal	GTEx
rs807478	UPK1A	cis	brain	BrainEAC
rs807478	ZBTB32	cis	Thyroid	GTEx
rs807478	COX6B1	cis	Muscle Skeletal	GTEx
rs807478	UPK1A	cis	cerebellar cortex	BrainEAC
rs807478	COX6B1	cis	Heart Left Ventricle	GTEx
rs807478	AC002398.13	cis	Thyroid	GTEx
rs807478	ZBTB32	cis	lung	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36249600-36252600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:36249800-36255000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:36249800-36265600	Weak transcription	Right Atrium	heart
4	chr19:36249800-36265800	Weak transcription	Fetal Kidney	kidney
5	chr19:36250000-36252800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:36250000-36254800	Weak transcription	Adipose Nuclei	Adipose
7	chr19:36250000-36255000	Weak transcription	Esophagus	oesophagus
8	chr19:36250000-36255800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:36250000-36258400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:36250000-36265600	Weak transcription	Brain Substantia Nigra	brain
11	chr19:36250200-36252800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:36250200-36252800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:36250200-36252800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:36250200-36255200	Weak transcription	Primary B cells from cord blood	blood
15	chr19:36250200-36265400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:36250400-36252800	Weak transcription	Colonic Mucosa	Colon
17	chr19:36250400-36252800	Weak transcription	Gastric	stomach
18	chr19:36250400-36252800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:36250400-36253000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:36250400-36253000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:36250400-36253400	Strong transcription	Fetal Lung	lung
22	chr19:36250400-36255000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:36250400-36260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:36250400-36265400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:36250400-36265600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:36250400-36265600	Weak transcription	Psoas Muscle	Psoas
27	chr19:36250400-36265800	Weak transcription	Small Intestine	intestine
28	chr19:36250400-36266000	Weak transcription	Aorta	Aorta
29	chr19:36250600-36252600	Weak transcription	Placenta	Placenta
30	chr19:36250600-36253400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:36250600-36254800	Weak transcription	Right Ventricle	heart
32	chr19:36250600-36255000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:36250600-36257400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:36250600-36258400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:36250600-36258400	Strong transcription	Fetal Intestine Small	intestine
36	chr19:36250600-36265400	Weak transcription	Stomach Mucosa	stomach
37	chr19:36250800-36252600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr19:36250800-36252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:36250800-36252800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:36250800-36252800	Weak transcription	Fetal Brain Female	brain
41	chr19:36250800-36252800	Weak transcription	Lung	lung
42	chr19:36250800-36252800	Weak transcription	GM12878-XiMat	blood
43	chr19:36250800-36254200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr19:36250800-36255000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:36250800-36255800	Weak transcription	HepG2	liver
46	chr19:36250800-36256000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:36250800-36257600	Strong transcription	Fetal Intestine Large	intestine
48	chr19:36250800-36265400	Weak transcription	Brain Angular Gyrus	brain
49	chr19:36250800-36265600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:36251000-36252600	Weak transcription	Liver	Liver

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