Variant report

Variant	rs4675761
Chromosome Location	chr2:209228472-209228473
allele	C/G
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	FOS	chr2:209228271-209228626	MCF10A-Er-Src	breast:	n/a	chr2:209228433-209228444
2	FOS	chr2:209228250-209228540	MCF10A-Er-Src	breast:	n/a	chr2:209228433-209228444
3	GATA3	chr2:209228143-209228672	MCF-7	breast:	n/a	n/a
4	RXRA	chr2:209228190-209228646	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr2:209228292-209228627	IMR90	lung:	n/a	n/a
6	FOSL2	chr2:209228258-209228630	MCF-7	breast:	n/a	n/a
7	E2F4	chr2:209228368-209228574	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr2:209228317-209228584	Hela-S3	cervix:	n/a	n/a
9	STAT3	chr2:209228391-209228553	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA2	chr2:209228251-209228622	HUVEC	blood vessel:	n/a	n/a
11	STAT3	chr2:209228339-209228538	MCF10A-Er-Src	breast:	n/a	n/a
12	MEF2A	chr2:209228124-209228678	SK-N-SH	brain:	n/a	n/a
13	ZNF384	chr2:209228370-209228572	K562	blood:	n/a	n/a
14	GATA3	chr2:209228048-209228804	A549	lung:	n/a	n/a
15	BATF	chr2:209228294-209228554	GM12878	blood:	n/a	chr2:209228435-209228446
16	POLR2A	chr2:209228144-209228639	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr2:209228344-209228564	SK-N-SH	brain:	n/a	n/a
18	RUNX3	chr2:209228275-209228666	GM12878	blood:	n/a	n/a
19	EP300	chr2:209228111-209228634	SK-N-SH_RA	brain:	n/a	n/a
20	JUN	chr2:209228163-209228623	K562	blood:	n/a	n/a
21	SIN3AK20	chr2:209228082-209228670	MCF-7	breast:	n/a	n/a
22	JUND	chr2:209228289-209228701	MCF-7	breast:	n/a	n/a
23	TEAD4	chr2:209228206-209228654	SK-N-SH	brain:	n/a	n/a
24	MYC	chr2:209228365-209228565	MCF10A-Er-Src	breast:	n/a	n/a
25	ZBTB33	chr2:209228285-209228632	SK-N-SH	brain:	n/a	n/a
26	JUND	chr2:209228088-209228775	SK-N-SH	brain:	n/a	n/a
27	TEAD4	chr2:209228003-209228699	SK-N-SH	brain:	n/a	n/a
28	EP300	chr2:209228341-209228555	GM12878	blood:	n/a	n/a
29	EP300	chr2:209228268-209228579	Hela-S3	cervix:	n/a	n/a
30	EP300	chr2:209228354-209228519	K562	blood:	n/a	n/a
31	FOXM1	chr2:209228126-209228603	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr2:209227820-209228805	SK-N-SH	brain:	n/a	n/a
33	MYC	chr2:209228359-209228525	K562	blood:	n/a	n/a
34	RCOR1	chr2:209228376-209228614	Hela-S3	cervix:	n/a	n/a
35	FOS	chr2:209228267-209228627	MCF10A-Er-Src	breast:	n/a	chr2:209228433-209228444
36	YY1	chr2:209228260-209228623	SK-N-SH	brain:	n/a	n/a
37	FOSL2	chr2:209228123-209228794	SK-N-SH	brain:	n/a	n/a
38	POU2F2	chr2:209228324-209228650	GM12878	blood:	n/a	n/a
39	MAX	chr2:209228355-209228541	NB4	blood:	n/a	n/a
40	FOS	chr2:209228251-209228621	Hela-S3	cervix:	n/a	chr2:209228433-209228444
41	EP300	chr2:209228170-209228589	SK-N-SH_RA	brain:	n/a	n/a
42	NFIC	chr2:209228197-209228716	SK-N-SH	brain:	n/a	n/a
43	MAX	chr2:209228188-209228677	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr2:209227807-209228894	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr2:209228013-209228823	MCF-7	breast:	n/a	n/a
46	ZNF384	chr2:209228364-209228626	GM12878	blood:	n/a	n/a
47	ZBTB33	chr2:209228221-209228658	SK-N-SH	brain:	n/a	n/a
48	USF2	chr2:209228334-209228534	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr2:209228271-209228717	MCF10A-Er-Src	breast:	n/a	n/a
50	EBF1	chr2:209228204-209228474	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000213081	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10175739	0.94[ASN][1000 genomes]
rs10176626	0.83[ASN][1000 genomes]
rs10186531	0.94[ASN][1000 genomes]
rs10189031	0.83[ASN][1000 genomes]
rs10208191	0.94[ASN][1000 genomes]
rs10208295	0.94[ASN][1000 genomes]
rs10210393	0.88[ASN][1000 genomes]
rs10932260	0.83[ASN][1000 genomes]
rs11693993	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695873	0.94[ASN][1000 genomes]
rs11891163	0.95[EUR][1000 genomes]
rs12617521	0.88[ASN][1000 genomes]
rs12617780	0.80[AMR][1000 genomes]
rs12618837	0.94[ASN][1000 genomes]
rs12621871	0.94[ASN][1000 genomes]
rs12694109	0.94[ASN][1000 genomes]
rs12991283	0.97[EUR][1000 genomes]
rs12998277	0.97[EUR][1000 genomes]
rs13395035	0.97[EUR][1000 genomes]
rs13400356	0.95[EUR][1000 genomes]
rs1437414	0.94[ASN][1000 genomes]
rs1465803	0.94[ASN][1000 genomes]
rs1465804	0.94[ASN][1000 genomes]
rs1469941	0.94[ASN][1000 genomes]
rs1529979	0.94[ASN][1000 genomes]
rs1561240	0.94[ASN][1000 genomes]
rs16841092	0.88[ASN][1000 genomes]
rs1866044	0.94[ASN][1000 genomes]
rs1866045	0.94[ASN][1000 genomes]
rs1898435	0.87[AMR][1000 genomes]
rs1898436	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1898437	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1900239	0.83[ASN][1000 genomes]
rs2118295	0.94[ASN][1000 genomes]
rs2118296	0.94[ASN][1000 genomes]
rs2118297	0.94[ASN][1000 genomes]
rs2304544	0.94[ASN][1000 genomes]
rs2363468	0.91[ASN][1000 genomes]
rs2363469	0.94[ASN][1000 genomes]
rs2363579	0.94[ASN][1000 genomes]
rs28885800	0.97[EUR][1000 genomes]
rs35217101	0.95[EUR][1000 genomes]
rs35293936	0.97[EUR][1000 genomes]
rs4673393	0.83[ASN][1000 genomes]
rs4675748	0.83[ASN][1000 genomes]
rs4675751	0.83[ASN][1000 genomes]
rs4675754	0.94[ASN][1000 genomes]
rs4675755	0.94[ASN][1000 genomes]
rs4675757	0.94[ASN][1000 genomes]
rs4675758	0.94[ASN][1000 genomes]
rs4675760	0.94[ASN][1000 genomes]
rs57553077	0.94[ASN][1000 genomes]
rs59149007	0.94[ASN][1000 genomes]
rs6435444	0.94[ASN][1000 genomes]
rs6435445	0.94[ASN][1000 genomes]
rs6435446	0.94[ASN][1000 genomes]
rs6435450	0.94[ASN][1000 genomes]
rs6435452	0.94[ASN][1000 genomes]
rs6435454	0.94[ASN][1000 genomes]
rs6713477	0.94[ASN][1000 genomes]
rs6718402	0.94[ASN][1000 genomes]
rs6721780	0.94[ASN][1000 genomes]
rs6724208	0.83[ASN][1000 genomes]
rs6725548	0.80[AMR][1000 genomes]
rs6725932	0.94[ASN][1000 genomes]
rs6734963	0.94[ASN][1000 genomes]
rs6736599	0.83[ASN][1000 genomes]
rs6751982	0.81[ASN][1000 genomes]
rs6758207	0.94[ASN][1000 genomes]
rs67660353	0.97[EUR][1000 genomes]
rs7355562	1.00[ASN][1000 genomes]
rs7583022	0.84[AMR][1000 genomes]
rs7587752	0.83[ASN][1000 genomes]
rs7592472	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs893253	0.91[ASN][1000 genomes]
rs893255	0.94[ASN][1000 genomes]
rs9288392	0.83[ASN][1000 genomes]
rs9646839	0.94[ASN][1000 genomes]
rs976247	0.94[ASN][1000 genomes]
rs994696	0.94[ASN][1000 genomes]
rs994697	0.94[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	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv437315	chr2:209204714-209249613	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209220200-209229800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:209220200-209235200	Weak transcription	K562	blood
3	chr2:209221800-209231200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:209224800-209234200	Weak transcription	Placenta	Placenta
5	chr2:209225800-209228600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:209226000-209230200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:209226000-209230800	Weak transcription	Spleen	Spleen
8	chr2:209226000-209234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:209227400-209229200	Enhancers	NHDF-Ad	bronchial
10	chr2:209227600-209229200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:209227600-209229200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:209227800-209228800	Enhancers	HSMMtube	muscle
13	chr2:209227800-209229000	Enhancers	HMEC	breast
14	chr2:209227800-209229200	Enhancers	NHLF	lung
15	chr2:209228000-209228800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:209228000-209228800	Enhancers	GM12878-XiMat	blood
17	chr2:209228000-209228800	Enhancers	NHEK	skin
18	chr2:209228000-209228800	Enhancers	Osteobl	bone
19	chr2:209228000-209229000	Enhancers	Hela-S3	cervix
20	chr2:209228200-209231200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:209228400-209229000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:209228400-209229200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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