Variant report

Variant	rs10203740
Chromosome Location	chr2:74051360-74051361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr2:74051096-74051496	GM12878	blood:	n/a	n/a
2	RAD21	chr2:74051073-74051544	IMR90	lung:	n/a	n/a
3	CTCF	chr2:74051114-74051385	GM12878	blood:	n/a	n/a
4	RAD21	chr2:74051081-74051439	HepG2	liver:	n/a	n/a
5	CTCF	chr2:74051141-74051397	HepG2	liver:	n/a	n/a
6	CTCF	chr2:74051110-74051395	Medullo	brain:	n/a	n/a
7	RCOR1	chr2:74051223-74051363	K562	blood:	n/a	n/a
8	TBL1XR1	chr2:74051126-74051454	K562	blood:	n/a	n/a
9	CTCF	chr2:74051320-74051470	A549	lung:	n/a	n/a
10	CTCF	chr2:74051133-74051372	LNCaP	prostate:	n/a	n/a
11	RAD21	chr2:74051074-74051453	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr2:74051137-74051383	K562	blood:	n/a	n/a
13	RAD21	chr2:74051086-74051453	A549	lung:	n/a	n/a
14	CTCF	chr2:74051034-74051453	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr2:74051043-74051474	GM12878	blood:	n/a	n/a
16	SMC3	chr2:74051073-74051469	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr2:74051014-74051506	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr2:74050875-74051729	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr2:74051131-74051543	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:74051220-74051370	GM12865	blood:	n/a	n/a
21	CTCF	chr2:74051141-74051368	GM13977	blood:	n/a	n/a
22	CTCF	chr2:74051114-74051400	HUVEC	blood vessel:	n/a	n/a
23	SMC3	chr2:74051105-74051429	K562	blood:	n/a	n/a
24	RAD21	chr2:74051002-74051520	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr2:74051220-74051370	GM12864	blood:	n/a	n/a
26	RAD21	chr2:74051060-74051420	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr2:74050970-74051658	SK-N-SH	brain:	n/a	n/a
28	RFX5	chr2:74051151-74051423	GM12878	blood:	n/a	n/a
29	CTCF	chr2:74050995-74051490	IMR90	lung:	n/a	n/a
30	EP300	chr2:74051195-74051389	K562	blood:	n/a	n/a
31	RAD21	chr2:74051052-74051472	GM12878	blood:	n/a	n/a
32	CTCF	chr2:74051124-74051443	A549	lung:	n/a	n/a
33	CTCF	chr2:74051044-74051424	K562	blood:	n/a	n/a
34	ZNF143	chr2:74051098-74051391	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr2:74051145-74051407	HepG2	liver:	n/a	n/a
36	RAD21	chr2:74051108-74051515	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr2:74051039-74051447	SK-N-SH_RA	brain:	n/a	n/a
38	RAD21	chr2:74051041-74051497	Hela-S3	cervix:	n/a	n/a
39	NFE2	chr2:74051279-74051361	GM12878	blood:	n/a	n/a
40	ZNF143	chr2:74051078-74051446	GM12878	blood:	n/a	chr2:74051412-74051421
41	CUX1	chr2:74051162-74051392	K562	blood:	n/a	n/a
42	RAD21	chr2:74051008-74051528	MCF-7	breast:	n/a	n/a
43	RUNX3	chr2:74051061-74051404	GM12878	blood:	n/a	n/a
44	CTCF	chr2:74051077-74051487	A549	lung:	n/a	n/a
45	CTCF	chr2:74051071-74051484	K562	blood:	n/a	n/a
46	CTCF	chr2:74051066-74051409	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr2:74050803-74051908	A549	lung:	n/a	n/a
48	MAFK	chr2:74051115-74051417	K562	blood:	n/a	n/a
49	RAD21	chr2:74050929-74051645	A549	lung:	n/a	n/a
50	CTCF	chr2:74051130-74051393	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:74040863..74045251-chr2:74049406..74052503,5	K562	blood:
2	chr2:74043930..74046271-chr2:74049022..74051900,2	K562	blood:
3	chr2:74050589..74053188-chr2:74425488..74428809,3	K562	blood:
4	chr2:74048232..74053835-chr2:74054336..74058282,6	MCF-7	breast:
5	chr2:74050746..74051626-chr2:74346995..74347813,2	K562	blood:
6	chr2:74051254..74054251-chr2:74054694..74057544,2	MCF-7	breast:
7	chr2:74040722..74043858-chr2:74049406..74052392,4	K562	blood:
8	chr2:74048023..74052470-chr2:74054588..74058277,4	K562	blood:
9	chr2:74048452..74051590-chr2:74209610..74212844,4	MCF-7	breast:
10	chr2:74050497..74051438-chr2:74374744..74375509,2	K562	blood:

No data

Variant related genes	Relation type
STAMBP	TF binding region
ENSG00000257800	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000065911	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10172044	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10191988	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10193032	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10208995	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11126415	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11126416	0.88[CEU][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11126417	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs11891140	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11892172	0.87[CEU][hapmap];0.80[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11894953	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs12052539	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12053242	0.82[EUR][1000 genomes]
rs12615807	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12619258	1.00[JPT][hapmap]
rs12624267	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713789	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12713790	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12713791	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12713793	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713794	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12713795	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12713797	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713798	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12992607	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13003035	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13006598	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13020517	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13033744	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13383097	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17009372	0.88[JPT][hapmap]
rs17350125	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17350188	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1806683	0.83[EUR][1000 genomes]
rs1815028	0.83[EUR][1000 genomes]
rs2001436	0.80[CEU][hapmap]
rs2006997	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2116367	0.88[CEU][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2272051	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272178	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2421557	0.83[EUR][1000 genomes]
rs2421558	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2421559	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2421672	0.83[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2421674	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2421675	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2421676	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2421677	0.83[EUR][1000 genomes]
rs2462127	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35498419	0.82[EUR][1000 genomes]
rs35791379	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3813228	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3980695	0.83[EUR][1000 genomes]
rs4241257	0.83[EUR][1000 genomes]
rs4358149	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4852316	0.81[EUR][1000 genomes]
rs4852976	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4852977	0.83[EUR][1000 genomes]
rs4852978	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6748233	0.83[EUR][1000 genomes]
rs6749841	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6750494	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6750515	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6750877	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6755500	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7210	0.87[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs732778	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7558546	0.82[EUR][1000 genomes]
rs7591112	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7597302	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7599453	0.82[EUR][1000 genomes]
rs891695	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs891696	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9309475	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9309476	0.83[AMR][1000 genomes];0.87[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	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	33 gene(s)	inside rSNPs	diseases
4	nsv2780	chr2:73994168-74057248	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10203740	TPRKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74048800-74054800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:74050000-74054800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:74050800-74054600	Weak transcription	GM12878-XiMat	blood
4	chr2:74051000-74051600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:74051000-74051600	Bivalent Enhancer	Fetal Kidney	kidney
6	chr2:74051000-74051800	Enhancers	Adipose Nuclei	Adipose
7	chr2:74051000-74052200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:74051200-74051600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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