Variant report

Variant	rs708614
Chromosome Location	chr1:155882396-155882397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155880908-155882410	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:155880804-155882518	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:155882031-155882510	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:155880309-155882587	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:155882360-155882572	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:155880405-155882468	K562	blood:	n/a	n/a
7	POLR2A	chr1:155880872-155882448	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:155880638-155882512	Hela-S3	cervix:	n/a	n/a
9	HCFC1	chr1:155880163-155883715	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:155880703-155883113	K562	blood:	n/a	n/a
11	POLR2A	chr1:155880868-155882436	K562	blood:	n/a	n/a
12	POLR2A	chr1:155880755-155883171	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr1:155881767-155882605	K562	blood:	n/a	n/a
14	POLR2A	chr1:155880828-155882450	GM12891	blood:	n/a	n/a
15	POLR2A	chr1:155881917-155882409	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:155880937-155882496	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:155880800-155882993	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr1:155880940-155882593	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:155880990-155882464	GM12891	blood:	n/a	n/a
20	POLR2A	chr1:155880554-155882752	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:155880420-155882724	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr1:155880458-155882566	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:155880905-155882728	K562	blood:	n/a	n/a
24	POLR2A	chr1:155880786-155882563	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:155880359-155882570	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr1:155882072-155882542	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:155880923-155882523	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155825653..155829252-chr1:155877943..155882760,5	MCF-7	breast:
2	chr1:155879962..155882698-chr1:155885713..155888748,6	MCF-7	breast:
3	chr1:155881025..155882666-chr1:156029216..156031058,2	MCF-7	breast:
4	chr1:155879661..155882760-chr1:155946571..155949454,3	K562	blood:
5	chr1:155878384..155883302-chr1:155900472..155905868,7	K562	blood:
6	chr1:155825368..155829605-chr1:155879516..155883021,7	K562	blood:
7	chr1:155823442..155829143-chr1:155879989..155882670,6	MCF-7	breast:
8	chr1:155881056..155883615-chr1:155891252..155893038,3	MCF-7	breast:
9	chr1:155825171..155830547-chr1:155878470..155884979,12	K562	blood:

No data

Variant related genes	Relation type
RIT1	TF binding region
ENSG00000116580	Chromatin interaction
ENSG00000132718	Chromatin interaction
ENSG00000116584	Chromatin interaction
ENSG00000132698	Chromatin interaction
ENSG00000273002	Chromatin interaction
ENSG00000132680	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1010033	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1018730	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1055184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908485	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1094558	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11264421	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12039053	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12129384	0.89[AFR][1000 genomes]
rs12138833	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12747344	0.97[EUR][1000 genomes]
rs1749407	0.91[EUR][1000 genomes]
rs1749408	0.85[EUR][1000 genomes]
rs1749409	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1765275	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1964951	0.94[EUR][1000 genomes]
rs2275071	0.90[ASN][1000 genomes]
rs2275079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2275081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2364402	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2364404	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28379575	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2886069	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34802187	0.97[EUR][1000 genomes]
rs35138477	0.84[EUR][1000 genomes]
rs35374730	0.97[EUR][1000 genomes]
rs35588936	0.84[EUR][1000 genomes]
rs35730001	0.94[EUR][1000 genomes]
rs3738587	0.90[ASN][1000 genomes]
rs3768280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4412586	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4661160	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4661162	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4661170	0.97[EUR][1000 genomes]
rs4661172	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs493446	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506688	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs527113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs605025	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6660802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6667096	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71628697	0.99[EUR][1000 genomes]
rs71628699	0.85[EUR][1000 genomes]
rs822502	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs822503	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs822653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155881200-155883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:155881200-155883600	Weak transcription	Lung	lung
3	chr1:155881200-155883600	Weak transcription	Small Intestine	intestine
4	chr1:155881200-155883600	Weak transcription	Spleen	Spleen
5	chr1:155881200-155883800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155881200-155885400	Weak transcription	Gastric	stomach
7	chr1:155881400-155883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:155881400-155885000	Weak transcription	Esophagus	oesophagus
9	chr1:155881400-155889600	Weak transcription	Pancreas	Pancrea
10	chr1:155881400-155890400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:155881600-155882400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:155881600-155882400	Enhancers	Stomach Mucosa	stomach
13	chr1:155881600-155882600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:155881600-155882800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:155881600-155882800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:155881600-155882800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:155881600-155882800	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr1:155881600-155882800	Weak transcription	Fetal Brain Female	brain
19	chr1:155881600-155882800	Weak transcription	Fetal Kidney	kidney
20	chr1:155881600-155882800	Genic enhancers	GM12878-XiMat	blood
21	chr1:155881600-155883000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:155881600-155883000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:155881600-155883200	Weak transcription	Brain Substantia Nigra	brain
24	chr1:155881600-155883200	Weak transcription	Fetal Brain Male	brain
25	chr1:155881600-155883400	Weak transcription	Brain Angular Gyrus	brain
26	chr1:155881600-155883400	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:155881600-155883400	Weak transcription	Psoas Muscle	Psoas
28	chr1:155881600-155883800	Weak transcription	Aorta	Aorta
29	chr1:155881600-155883800	Weak transcription	Brain Germinal Matrix	brain
30	chr1:155881600-155885000	Weak transcription	Ovary	ovary
31	chr1:155881600-155885400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:155881600-155885400	Weak transcription	Right Ventricle	heart
33	chr1:155881600-155886200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:155881600-155889800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:155881600-155890800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:155881800-155882400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:155881800-155882400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:155881800-155882400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:155881800-155882600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:155881800-155882600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:155881800-155882600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:155881800-155882600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:155881800-155882600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:155881800-155882600	Strong transcription	Fetal Intestine Small	intestine
45	chr1:155881800-155882600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:155881800-155882800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:155881800-155883000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:155881800-155883000	Weak transcription	Primary T cells from cord blood	blood
49	chr1:155881800-155883000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:155881800-155883000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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