Variant report

Variant	rs4463232
Chromosome Location	chr6:86158160-86158161
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:86158038-86158607	ProgFib	skin:	n/a	n/a
2	POLR2A	chr6:86158090-86158817	HCT-116	colon:	n/a	n/a
3	POLR2A	chr6:86157857-86158865	SK-N-SH	brain:	n/a	n/a
4	WRNIP1	chr6:86158093-86158268	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:86157424-86164307	IMR90	lung:	n/a	n/a
6	CHD1	chr6:86157721-86163983	IMR90	lung:	n/a	chr6:86159789-86159799 chr6:86159462-86159472 chr6:86159818-86159828
7	POLR2A	chr6:86157822-86165964	U87	brain:	n/a	n/a
8	NFYB	chr6:86157959-86158296	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:86157469-86164290	U87	brain:	n/a	n/a
10	POLR2A	chr6:86157822-86160140	U87	brain:	n/a	n/a
11	POLR2A	chr6:86157463-86164296	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86151157..86153816-chr6:86156988..86158751,2	K562	blood:
2	chr6:86156006..86158396-chr6:86159870..86162328,2	K562	blood:

Variant related genes	Relation type
NT5E	TF binding region

Extended variants
information (count: 149 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1000632	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1000633	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1000634	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11508041	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963844	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968230	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968238	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055597	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12524836	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12528808	0.82[ASN][1000 genomes]
rs12662033	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664908	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1322401	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1322403	0.85[ASN][1000 genomes]
rs1322404	0.85[ASN][1000 genomes]
rs1570310	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1570311	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590279	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1590280	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1665786	0.85[ASN][1000 genomes]
rs1744121	0.85[ASN][1000 genomes]
rs1744122	0.85[ASN][1000 genomes]
rs2208722	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2229524	0.82[ASN][1000 genomes]
rs2295890	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812137	0.82[ASN][1000 genomes]
rs3812139	0.82[ASN][1000 genomes]
rs4144166	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144167	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4327657	0.82[ASN][1000 genomes]
rs4373339	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4400191	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4458647	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4487548	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4565270	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4571538	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4624841	0.85[ASN][1000 genomes]
rs490079	0.85[ASN][1000 genomes]
rs494562	0.85[ASN][1000 genomes]
rs495469	0.85[ASN][1000 genomes]
rs495472	0.85[ASN][1000 genomes]
rs498289	0.85[ASN][1000 genomes]
rs515980	0.85[ASN][1000 genomes]
rs520090	0.85[ASN][1000 genomes]
rs521005	0.85[ASN][1000 genomes]
rs522129	0.85[ASN][1000 genomes]
rs522915	0.85[ASN][1000 genomes]
rs527670	0.85[ASN][1000 genomes]
rs543359	0.85[ASN][1000 genomes]
rs544403	0.85[ASN][1000 genomes]
rs544408	0.85[ASN][1000 genomes]
rs547052	0.85[ASN][1000 genomes]
rs547963	0.85[ASN][1000 genomes]
rs550499	0.85[ASN][1000 genomes]
rs554113	0.85[ASN][1000 genomes]
rs567686	0.85[ASN][1000 genomes]
rs573737	0.85[ASN][1000 genomes]
rs573892	0.85[ASN][1000 genomes]
rs575477	0.85[ASN][1000 genomes]
rs589255	0.85[ASN][1000 genomes]
rs59797285	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617483	0.85[ASN][1000 genomes]
rs618448	0.85[ASN][1000 genomes]
rs619299	0.85[ASN][1000 genomes]
rs619753	0.85[ASN][1000 genomes]
rs632163	0.85[ASN][1000 genomes]
rs637346	0.85[ASN][1000 genomes]
rs638745	0.85[ASN][1000 genomes]
rs640093	0.85[ASN][1000 genomes]
rs683218	0.85[ASN][1000 genomes]
rs6900270	0.82[ASN][1000 genomes]
rs6902904	0.82[ASN][1000 genomes]
rs6913634	0.82[ASN][1000 genomes]
rs6919207	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6942065	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73751215	0.82[ASN][1000 genomes]
rs7746186	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7749745	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7750970	0.85[ASN][1000 genomes]
rs7753022	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7753711	0.85[ASN][1000 genomes]
rs7753936	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7753950	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7754559	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7763191	0.85[ASN][1000 genomes]
rs7767626	0.85[ASN][1000 genomes]
rs7767800	0.85[ASN][1000 genomes]
rs7771187	0.82[ASN][1000 genomes]
rs7771860	0.85[ASN][1000 genomes]
rs7772233	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9294335	0.85[ASN][1000 genomes]
rs9294336	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9342039	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344518	0.85[ASN][1000 genomes]
rs9344519	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9344520	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9344521	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9344522	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9344523	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344524	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344525	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344526	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344527	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9344528	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9344529	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9344530	0.82[ASN][1000 genomes]
rs9353309	0.85[ASN][1000 genomes]
rs9353310	0.85[ASN][1000 genomes]
rs9353312	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9353313	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9353314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9353315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9353316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9353317	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359655	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9359656	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9362211	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9362212	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9362213	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9362214	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9362215	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9362216	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9362217	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9362218	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9362219	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9362220	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9362221	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9362223	0.82[ASN][1000 genomes]
rs9362224	0.81[ASN][1000 genomes]
rs9362225	0.82[ASN][1000 genomes]
rs9444342	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9444343	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9444346	0.80[EUR][1000 genomes]
rs9450271	0.82[ASN][1000 genomes]
rs9450274	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9450278	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9450279	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9450280	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9450286	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv463937	chr6:86114766-86264374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv604092	chr6:86114766-86264374	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv520112	chr6:86144875-86247759	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4463232	NT5E	cis	Thyroid	GTEx
rs4463232	NT5E	Cis_1M	lymphoblastoid	RTeQTL
rs4463232	NT5E	cis	Whole Blood	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86145400-86159200	Weak transcription	Gastric	stomach
2	chr6:86152400-86158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:86157400-86158200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:86157400-86158200	Flanking Active TSS	NHLF	lung
5	chr6:86157400-86158400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:86157400-86158400	Flanking Active TSS	NHDF-Ad	bronchial
7	chr6:86157400-86158600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:86157400-86158800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:86157400-86158800	Flanking Active TSS	GM12878-XiMat	blood
10	chr6:86157400-86158800	Flanking Active TSS	Osteobl	bone
11	chr6:86157600-86158400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:86157600-86158600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:86157600-86158800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:86157600-86158800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:86157600-86159000	Bivalent Enhancer	Primary T cells from cord blood	blood
16	chr6:86157600-86159200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:86157800-86158200	Enhancers	NH-A	brain
18	chr6:86157800-86158600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:86157800-86158800	Bivalent Enhancer	Primary B cells from cord blood	blood
20	chr6:86157800-86159000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:86157800-86162200	Active TSS	Stomach Smooth Muscle	stomach
22	chr6:86157800-86162400	Active TSS	Colon Smooth Muscle	Colon
23	chr6:86158000-86158200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:86158000-86158400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:86158000-86158400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr6:86158000-86158400	Enhancers	Rectal Smooth Muscle	rectum
27	chr6:86158000-86158400	Flanking Active TSS	A549	lung
28	chr6:86158000-86158600	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr6:86158000-86158600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:86158000-86158600	Enhancers	Brain Anterior Caudate	brain
31	chr6:86158000-86158600	Enhancers	HepG2	liver
32	chr6:86158000-86158600	Enhancers	HUVEC	blood vessel
33	chr6:86158000-86158800	Flanking Active TSS	HMEC	breast
34	chr6:86158000-86158800	Flanking Active TSS	HSMM	muscle
35	chr6:86158000-86159000	Flanking Active TSS	NHEK	skin
36	chr6:86158000-86161200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:86158000-86162000	Active TSS	Aorta	Aorta

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