Variant report

Variant	rs8105479
Chromosome Location	chr19:44668377-44668378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr19:44668243-44668443	GM12878	blood:	n/a	n/a
2	JUN	chr19:44668258-44669877	K562	blood:	n/a	chr19:44668934-44668948
3	POLR2A	chr19:44668228-44669882	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44616225..44617902-chr19:44668355..44670566,2	MCF-7	breast:
2	chr19:44643597..44646401-chr19:44667704..44670290,3	K562	blood:
3	chr19:44643597..44647343-chr19:44667648..44671629,7	K562	blood:
4	chr19:44668036..44670553-chr19:44709491..44711796,2	MCF-7	breast:
5	chr19:44597070..44599992-chr19:44667232..44668918,2	K562	blood:
6	chr19:44644162..44647190-chr19:44667490..44670508,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF226	TF binding region
ENSG00000263002	Chromatin interaction
ENSG00000131115	Chromatin interaction
ENSG00000267680	Chromatin interaction
ENSG00000186019	Chromatin interaction
ENSG00000256294	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10409155	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10417451	0.88[ASN][1000 genomes]
rs10775542	0.85[AFR][1000 genomes]
rs1107064	0.82[JPT][hapmap]
rs11666199	0.92[ASN][1000 genomes]
rs11667521	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11671074	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs12459795	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12460039	0.88[EUR][1000 genomes]
rs12460431	0.93[ASN][1000 genomes]
rs12461251	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12462557	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes]
rs12462723	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes]
rs12609635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12972784	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12975546	0.80[YRI][hapmap];0.92[AFR][1000 genomes]
rs12980565	0.92[AFR][1000 genomes]
rs2051058	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2051059	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2125578	0.90[AFR][1000 genomes]
rs2125579	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2279073	0.92[AFR][1000 genomes]
rs2356727	0.96[ASN][1000 genomes]
rs2356752	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4802209	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4802210	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4802218	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4803684	0.87[CHB][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4803694	0.84[AFR][1000 genomes]
rs56357907	0.88[EUR][1000 genomes]
rs62117770	0.88[EUR][1000 genomes]
rs62117771	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6509145	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6509150	0.80[AFR][1000 genomes]
rs7248054	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253196	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7508523	0.90[ASN][1000 genomes]
rs8101032	0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs8103838	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8105073	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs8108934	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9646642	0.82[AFR][1000 genomes]
rs9646643	0.92[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44647800-44668400	ZNF genes & repeats	Liver	Liver
2	chr19:44661400-44668600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:44662200-44668400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr19:44662200-44668400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:44662200-44668400	Weak transcription	Fetal Heart	heart
6	chr19:44662200-44668600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:44662200-44668600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:44662200-44668600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:44662200-44668600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:44662200-44668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:44662200-44668600	Weak transcription	Fetal Brain Female	brain
12	chr19:44662200-44668600	Weak transcription	Right Ventricle	heart
13	chr19:44662200-44668600	Weak transcription	NHDF-Ad	bronchial
14	chr19:44662200-44668800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:44662400-44668400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:44662400-44668400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:44662400-44668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:44662600-44669000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:44662800-44668600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:44663200-44668400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:44663400-44668400	Weak transcription	Brain Germinal Matrix	brain
22	chr19:44663400-44668600	Weak transcription	Osteobl	bone
23	chr19:44663600-44668400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:44665800-44668800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:44667600-44669800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr19:44667800-44669800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr19:44668000-44668600	ZNF genes & repeats	A549	lung
28	chr19:44668000-44669800	Active TSS	Rectal Smooth Muscle	rectum
29	chr19:44668200-44668400	Weak transcription	Adipose Nuclei	Adipose
30	chr19:44668200-44668400	Enhancers	Brain Substantia Nigra	brain
31	chr19:44668200-44668800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr19:44668200-44668800	Flanking Active TSS	HepG2	liver
33	chr19:44668200-44669000	Flanking Active TSS	Dnd41	blood

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