Variant report

Variant	rs8104312
Chromosome Location	chr19:52813565-52813566
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	chr19:52810214..52812761-chr19:52813239..52815974,2	K562	blood:
2	chr19:52771868..52774315-chr19:52811814..52814643,2	K562	blood:

Variant related genes	Relation type
ENSG00000196214	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11084147	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11667008	0.82[EUR][1000 genomes]
rs12973239	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12973842	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4802920	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8109096	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8109646	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8112051	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs8112337	0.81[EUR][1000 genomes]
rs8113784	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv912299	chr19:52795985-52832830	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv458742	chr19:52808986-52866171	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
10	nsv580008	chr19:52808986-52866171	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
11	esv3394228	chr19:52810905-52816835	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8104312	ZNF480	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52801800-52827200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:52801800-52829200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:52802000-52826400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:52802000-52830000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:52802200-52827400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:52802200-52828400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:52802200-52829200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr19:52802400-52814000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:52802400-52828800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr19:52802400-52841800	ZNF genes & repeats	Liver	Liver
11	chr19:52802600-52826800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr19:52802600-52827600	ZNF genes & repeats	Dnd41	blood
13	chr19:52803800-52816200	ZNF genes & repeats	Small Intestine	intestine
14	chr19:52803800-52829000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr19:52803800-52829200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr19:52804000-52814000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr19:52804400-52827200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr19:52805000-52819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr19:52805200-52829000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr19:52805400-52829200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:52805600-52813800	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr19:52805600-52827800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:52805800-52813800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr19:52807400-52813600	ZNF genes & repeats	Lung	lung
25	chr19:52807400-52824400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr19:52807400-52824800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:52807800-52813600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:52807800-52814000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:52807800-52814000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
30	chr19:52807800-52816200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr19:52807800-52827000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr19:52808000-52813800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:52808000-52824200	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr19:52808200-52813800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
35	chr19:52808200-52813800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr19:52808200-52813800	ZNF genes & repeats	Fetal Brain Female	brain
37	chr19:52808200-52813800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
38	chr19:52808200-52814000	ZNF genes & repeats	Ovary	ovary
39	chr19:52808200-52826200	ZNF genes & repeats	Thymus	Thymus
40	chr19:52808200-52827200	ZNF genes & repeats	Left Ventricle	heart
41	chr19:52808200-52831800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr19:52808400-52813600	ZNF genes & repeats	Brain Germinal Matrix	brain
43	chr19:52808400-52814000	ZNF genes & repeats	Fetal Thymus	thymus
44	chr19:52808400-52817600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:52808400-52826200	ZNF genes & repeats	Placenta	Placenta
46	chr19:52808400-52826600	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr19:52808400-52827200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:52808600-52813600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr19:52808600-52813800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr19:52808600-52816000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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