Variant report

Variant	rs2074300
Chromosome Location	chr19:19380996-19380997
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19380987-19381068	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19379140..19381298-chr19:19384434..19386732,2	K562	blood:
2	chr19:19375808..19378765-chr19:19380089..19382167,3	K562	blood:
3	chr19:19378854..19381298-chr19:19383968..19386732,3	K562	blood:
4	chr19:19378511..19382101-chr19:19389076..19392249,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TM6SF2-1	chr19:19380982-19381085	NONHSAT063039

No data

Variant related genes	Relation type
TM6SF2	TF binding region
ENSG00000213996	Chromatin interaction
ENSG00000267629	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1009136	0.85[ASN][1000 genomes]
rs1010207	0.88[ASN][1000 genomes]
rs10402661	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10403731	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407952	0.87[ASN][1000 genomes]
rs10409234	0.86[ASN][1000 genomes]
rs10418051	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10419245	0.90[ASN][1000 genomes]
rs10419672	0.84[EUR][1000 genomes]
rs10421505	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10426780	0.88[ASN][1000 genomes]
rs11085259	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11085261	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11666553	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12459676	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12460764	0.86[ASN][1000 genomes]
rs12976025	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12977937	0.86[ASN][1000 genomes]
rs12981974	0.89[EUR][1000 genomes]
rs12982276	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12983137	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12985655	0.81[ASN][1000 genomes]
rs1859287	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2017964	0.90[ASN][1000 genomes]
rs2023882	0.87[ASN][1000 genomes]
rs2023883	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074089	0.87[ASN][1000 genomes]
rs2074090	0.81[ASN][1000 genomes]
rs2074091	0.81[ASN][1000 genomes]
rs2074296	0.87[ASN][1000 genomes]
rs2074298	0.88[ASN][1000 genomes]
rs2074299	0.90[ASN][1000 genomes]
rs2074301	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074303	0.90[ASN][1000 genomes]
rs2074550	0.90[ASN][1000 genomes]
rs2074551	0.85[ASN][1000 genomes]
rs2269873	0.89[ASN][1000 genomes]
rs2285627	0.87[ASN][1000 genomes]
rs2285628	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2285859	0.88[ASN][1000 genomes]
rs2301668	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2301669	0.81[ASN][1000 genomes]
rs2301671	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2301784	0.90[ASN][1000 genomes]
rs2301786	0.87[ASN][1000 genomes]
rs2315022	0.87[ASN][1000 genomes]
rs2315025	0.87[ASN][1000 genomes]
rs2965191	0.81[ASN][1000 genomes]
rs2965193	0.81[ASN][1000 genomes]
rs4808193	0.82[ASN][1000 genomes]
rs4808194	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808937	0.87[ASN][1000 genomes]
rs4808938	0.87[ASN][1000 genomes]
rs4808939	0.92[ASN][1000 genomes]
rs4808940	0.84[ASN][1000 genomes]
rs4808941	0.83[ASN][1000 genomes]
rs4808942	0.89[ASN][1000 genomes]
rs62135552	0.85[ASN][1000 genomes]
rs6511026	0.90[ASN][1000 genomes]
rs6511028	0.87[ASN][1000 genomes]
rs67720221	0.90[ASN][1000 genomes]
rs7246748	0.84[ASN][1000 genomes]
rs7247309	0.85[ASN][1000 genomes]
rs7250368	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7254230	0.86[ASN][1000 genomes]
rs7254748	0.86[ASN][1000 genomes]
rs7254927	0.87[ASN][1000 genomes]
rs7258508	0.82[ASN][1000 genomes]
rs7259434	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs735273	0.92[ASN][1000 genomes]
rs757000	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs757001	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs769267	0.81[ASN][1000 genomes]
rs8101938	0.90[ASN][1000 genomes]
rs8103197	0.81[ASN][1000 genomes]
rs8103496	0.90[ASN][1000 genomes]
rs8105094	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8105984	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8108647	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9304960	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs968525	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2074300	KIAA0892	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19373000-19384000	Weak transcription	Pancreas	Pancrea
2	chr19:19374000-19383400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:19374000-19383400	Weak transcription	Right Atrium	heart
4	chr19:19374200-19383600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:19374400-19381400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr19:19374400-19383200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:19374800-19381800	Strong transcription	Fetal Intestine Small	intestine
8	chr19:19374800-19383200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:19377800-19381800	Weak transcription	Fetal Intestine Large	intestine
10	chr19:19380200-19382600	Weak transcription	Liver	Liver
11	chr19:19380400-19381200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:19380800-19381800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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