Variant report

Variant	rs10898254
Chromosome Location	chr11:71245911-71245912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:71245612-71246012	HepG2	liver:	n/a	n/a
2	JUND	chr11:71245784-71246129	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:71245748-71246165	HepG2	liver:	n/a	n/a
4	MYBL2	chr11:71245702-71246114	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:71245800-71246502	HepG2	liver:	n/a	n/a
6	GATA2	chr11:71245898-71246396	K562	blood:	n/a	n/a
7	FOXA1	chr11:71245746-71246132	HepG2	liver:	n/a	n/a
8	FOXA1	chr11:71245730-71246111	HepG2	liver:	n/a	n/a
9	FOXA1	chr11:71245720-71246513	HepG2	liver:	n/a	n/a
10	FOSL2	chr11:71245773-71246149	HepG2	liver:	n/a	n/a
11	SPI1	chr11:71245885-71246547	GM12878	blood:	n/a	n/a
12	SP1	chr11:71245692-71246679	HepG2	liver:	n/a	n/a
13	JUND	chr11:71245838-71245966	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:71245828-71246159	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:71245852-71246096	HepG2	liver:	n/a	n/a
16	HEY1	chr11:71245663-71246734	HepG2	liver:	n/a	n/a
17	MYBL2	chr11:71245603-71246739	HepG2	liver:	n/a	n/a
18	HEY1	chr11:71245782-71246157	HepG2	liver:	n/a	n/a
19	RXRA	chr11:71245772-71246662	HepG2	liver:	n/a	n/a
20	NR2F2	chr11:71245879-71246373	K562	blood:	n/a	n/a
21	USF1	chr11:71245855-71245993	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:71245719-71246501	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
KRTAP5-8	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10751114	0.82[EUR][1000 genomes]
rs10792762	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792763	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792770	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10792776	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10792777	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10792778	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10792779	0.82[EUR][1000 genomes]
rs10898255	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10898256	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10898261	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898276	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898282	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10898286	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898288	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10898289	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10898290	0.80[ASN][1000 genomes]
rs10898293	0.82[EUR][1000 genomes]
rs11234102	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234148	0.82[EUR][1000 genomes]
rs11234149	0.86[EUR][1000 genomes]
rs11600364	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604725	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11605448	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11606159	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792437	0.81[EUR][1000 genomes]
rs2663	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34762929	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35647583	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129753	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4129754	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4945017	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55921335	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592186	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592187	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6592188	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6592189	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6592190	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67152879	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67293913	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67450797	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68163405	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113098	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7125610	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7126613	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72958323	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7358341	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7395845	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7926544	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7926576	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7926656	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7938628	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7941700	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7943893	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7949169	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897900	chr11:71234107-71276909	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv897899	chr11:71234107-71277981	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3363568	chr11:71237277-71275754	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3425891	chr11:71237287-71275790	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3528100	chr11:71237332-71275725	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv3528101	chr11:71237332-71275725	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3432021	chr11:71237346-71275760	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10898254	KRTAP5-9	cis	Esophagus Mucosa	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71232800-71259800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:71239000-71246400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:71244000-71247200	Enhancers	K562	blood
4	chr11:71245200-71247200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:71245400-71246800	Enhancers	Fetal Intestine Large	intestine
6	chr11:71245400-71247200	Enhancers	Fetal Intestine Small	intestine
7	chr11:71245400-71247400	Enhancers	Liver	Liver
8	chr11:71245800-71246400	Flanking Active TSS	HepG2	liver
9	chr11:71245800-71246600	Enhancers	Pancreas	Pancrea
10	chr11:71245800-71246800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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