Variant report

Variant	rs2240919
Chromosome Location	chr3:52831701-52831702
allele	C/G
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:5)
LncRNA
region (count:0)
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	chr3:52831449-52831729	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52802780..52807602-chr3:52827391..52831755,5	K562	blood:
2	chr3:52819022..52821940-chr3:52830532..52832899,2	K562	blood:
3	chr3:52831117..52833454-chr3:52835406..52839409,3	K562	blood:
4	chr3:52831402..52833454-chr3:52836536..52839409,2	K562	blood:
5	chr3:52719608..52722839-chr3:52830545..52833712,3	K562	blood:

No data

Variant related genes	Relation type
ITIH3	TF binding region
ENSG00000163939	Chromatin interaction
ENSG00000055957	Chromatin interaction
ENSG00000162267	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000114904	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1014969	0.86[JPT][hapmap]
rs1029871	0.86[JPT][hapmap]
rs1042779	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10510760	0.86[JPT][hapmap]
rs1075653	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs1076425	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10780035	0.86[JPT][hapmap]
rs10865973	0.86[JPT][hapmap]
rs10865974	0.86[JPT][hapmap]
rs11130310	0.85[JPT][hapmap]
rs11130312	0.86[JPT][hapmap]
rs11130315	0.86[JPT][hapmap]
rs11130317	0.86[JPT][hapmap]
rs11130323	0.86[JPT][hapmap]
rs11177	0.81[JPT][hapmap]
rs11716747	0.86[JPT][hapmap]
rs11717836	0.85[JPT][hapmap]
rs12487591	0.86[JPT][hapmap]
rs12488461	0.85[JPT][hapmap]
rs12496634	0.86[JPT][hapmap]
rs12497998	0.86[JPT][hapmap]
rs12635140	0.86[JPT][hapmap]
rs13064064	0.86[JPT][hapmap]
rs13068293	0.86[JPT][hapmap]
rs13071584	0.86[JPT][hapmap]
rs13079063	0.90[JPT][hapmap]
rs13082208	0.89[JPT][hapmap]
rs13082960	0.85[JPT][hapmap]
rs13083798	0.81[JPT][hapmap]
rs13085895	0.86[JPT][hapmap]
rs1561337	0.86[JPT][hapmap]
rs1866268	0.86[JPT][hapmap]
rs2019065	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2028216	0.86[JPT][hapmap]
rs2071506	0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2071507	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2071508	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2072390	0.85[JPT][hapmap]
rs2079929	0.86[JPT][hapmap]
rs2083180	0.86[JPT][hapmap]
rs2159644	0.86[JPT][hapmap]
rs2164885	0.90[JPT][hapmap]
rs2230535	0.86[JPT][hapmap]
rs2239549	0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2239550	0.92[ASN][1000 genomes]
rs2239551	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2239699	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2240920	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2268023	0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2268025	0.87[JPT][hapmap]
rs2268026	0.86[JPT][hapmap]
rs2268027	0.85[JPT][hapmap]
rs2270197	0.96[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2284350	0.84[ASN][1000 genomes]
rs2284351	0.82[ASN][1000 genomes]
rs2286798	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2289247	0.86[JPT][hapmap]
rs2289250	0.86[JPT][hapmap]
rs2300149	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2336149	0.86[JPT][hapmap]
rs2336545	0.86[JPT][hapmap]
rs2535629	0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2710323	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs2710331	0.86[ASN][1000 genomes]
rs33967311	0.86[JPT][hapmap]
rs34017441	0.90[JPT][hapmap]
rs35526119	0.86[JPT][hapmap]
rs3617	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs3733039	0.86[JPT][hapmap]
rs3733041	0.86[JPT][hapmap]
rs3733045	0.86[JPT][hapmap]
rs3755798	0.86[JPT][hapmap]
rs3755806	0.86[JPT][hapmap]
rs3774354	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs3774355	0.96[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs3774365	0.86[JPT][hapmap]
rs3774366	0.86[JPT][hapmap]
rs4687548	0.86[JPT][hapmap]
rs4687550	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs4687551	0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4687552	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4687638	0.86[JPT][hapmap]
rs4687654	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6445534	0.82[JPT][hapmap]
rs6445535	0.86[JPT][hapmap]
rs6617	0.86[JPT][hapmap]
rs6762813	0.86[JPT][hapmap]
rs6778329	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs678	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6792369	0.87[ASN][1000 genomes]
rs6804145	0.86[JPT][hapmap]
rs6976	0.86[JPT][hapmap]
rs736408	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs746694	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7611731	0.86[JPT][hapmap]
rs7622694	0.86[JPT][hapmap]
rs7624716	0.86[JPT][hapmap]
rs767418	0.85[JPT][hapmap]
rs8906	0.86[JPT][hapmap]
rs9324	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs9881468	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs998909	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1010761	chr3:52804547-52851258	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv1810629	chr3:52817031-52869635	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv876797	chr3:52817675-52873984	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2240919	ITIH4-AS1	cis	Artery Aorta	GTEx
rs2240919	NT5DC2	cis	Skin Sun Exposed Lower leg	GTEx
rs2240919	ITIH4-AS1	cis	Artery Tibial	GTEx
rs2240919	GLT8D1	Cis_1M	lymphoblastoid	RTeQTL
rs2240919	NT5DC2	Cis_1M	lymphoblastoid	RTeQTL
rs2240919	FLJ12442	cis	multi-tissue	Pritchard
rs2240919	NT5DC2	cis	multi-tissue	Pritchard
rs2240919	PBRM1	cis	Thyroid	GTEx
rs2240919	MUSTN1	cis	Artery Aorta	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52824000-52832800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52825800-52836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:52827800-52832000	Weak transcription	HSMM	muscle
4	chr3:52828200-52835800	Weak transcription	HSMMtube	muscle
5	chr3:52828600-52832600	Weak transcription	Stomach Mucosa	stomach
6	chr3:52829000-52832200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:52829000-52832400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:52829000-52834200	Weak transcription	Brain Substantia Nigra	brain
9	chr3:52829600-52832400	Weak transcription	Placenta	Placenta
10	chr3:52830200-52832000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:52830200-52833200	Weak transcription	Fetal Thymus	thymus
12	chr3:52830400-52832600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:52830400-52834000	Genic enhancers	HepG2	liver
14	chr3:52830400-52836400	Weak transcription	Pancreas	Pancrea
15	chr3:52830600-52832000	Weak transcription	Spleen	Spleen
16	chr3:52830800-52835000	Genic enhancers	Liver	Liver

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