Variant report

Variant	rs61321970
Chromosome Location	chr2:101036465-101036466
allele	C/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	CEBPB	chr2:101036305-101036750	HepG2	liver:	n/a	chr2:101036556-101036567
2	CEBPB	chr2:101036462-101036663	A549	lung:	n/a	chr2:101036556-101036567
3	CEBPB	chr2:101036408-101036623	H1-hESC	embryonic stem cell:	n/a	chr2:101036556-101036567
4	CEBPB	chr2:101036454-101036677	HepG2	liver:	n/a	chr2:101036556-101036567
5	CEBPB	chr2:101036360-101036727	K562	blood:	n/a	chr2:101036556-101036567
6	CEBPB	chr2:101036370-101036735	HepG2	liver:	n/a	chr2:101036556-101036567
7	CEBPB	chr2:101036397-101036723	IMR90	lung:	n/a	chr2:101036556-101036567
8	CEBPB	chr2:101036433-101036634	Hela-S3	cervix:	n/a	chr2:101036556-101036567

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101029935..101035569-chr2:101035669..101041059,9	MCF-7	breast:

Variant related genes	Relation type
CHST10	TF binding region
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10167159	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180570	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10184899	0.88[ASN][1000 genomes]
rs10193535	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10198495	1.00[ASN][1000 genomes]
rs10198682	1.00[ASN][1000 genomes]
rs10200480	1.00[ASN][1000 genomes]
rs10201098	1.00[ASN][1000 genomes]
rs10204833	1.00[ASN][1000 genomes]
rs10206374	0.88[ASN][1000 genomes]
rs10208900	1.00[ASN][1000 genomes]
rs10208911	1.00[ASN][1000 genomes]
rs10209186	1.00[ASN][1000 genomes]
rs1057056	0.83[AMR][1000 genomes]
rs1057063	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1107429	1.00[ASN][1000 genomes]
rs1124009	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391930	0.88[ASN][1000 genomes]
rs13396147	0.88[ASN][1000 genomes]
rs13404823	0.88[ASN][1000 genomes]
rs13407408	0.88[ASN][1000 genomes]
rs13407648	0.88[ASN][1000 genomes]
rs13407891	0.88[ASN][1000 genomes]
rs13410582	0.88[ASN][1000 genomes]
rs13419808	0.88[ASN][1000 genomes]
rs13420942	1.00[ASN][1000 genomes]
rs1347721	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1370627	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437970	1.00[ASN][1000 genomes]
rs17023985	1.00[ASN][1000 genomes]
rs17024035	1.00[ASN][1000 genomes]
rs17024129	0.88[ASN][1000 genomes]
rs17024136	0.88[ASN][1000 genomes]
rs17024144	0.88[ASN][1000 genomes]
rs17024209	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1898571	0.88[ASN][1000 genomes]
rs1898574	1.00[ASN][1000 genomes]
rs2309793	1.00[ASN][1000 genomes]
rs3748936	0.83[AMR][1000 genomes]
rs4149506	0.80[AMR][1000 genomes]
rs4149509	0.80[AMR][1000 genomes]
rs4149514	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4149515	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55640826	0.88[ASN][1000 genomes]
rs55843950	0.88[ASN][1000 genomes]
rs56051859	1.00[ASN][1000 genomes]
rs56118658	0.88[ASN][1000 genomes]
rs56342384	1.00[ASN][1000 genomes]
rs56656536	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56741959	0.83[AMR][1000 genomes]
rs57862179	0.83[AMR][1000 genomes]
rs58164864	0.83[AMR][1000 genomes]
rs58876304	0.88[ASN][1000 genomes]
rs59340778	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60131548	0.88[ASN][1000 genomes]
rs60609848	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60898093	0.88[ASN][1000 genomes]
rs61559573	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61710328	0.83[AMR][1000 genomes]
rs6542931	1.00[ASN][1000 genomes]
rs6542932	1.00[ASN][1000 genomes]
rs6542939	1.00[ASN][1000 genomes]
rs6542941	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6708942	0.88[ASN][1000 genomes]
rs6713862	0.88[ASN][1000 genomes]
rs6714109	1.00[ASN][1000 genomes]
rs6716009	0.88[ASN][1000 genomes]
rs6716367	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6724695	0.88[ASN][1000 genomes]
rs6725672	0.83[AMR][1000 genomes]
rs6732285	1.00[ASN][1000 genomes]
rs6736938	0.80[AMR][1000 genomes]
rs6739576	1.00[ASN][1000 genomes]
rs6739589	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6740098	1.00[ASN][1000 genomes]
rs6749572	0.80[AMR][1000 genomes]
rs6750866	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6754379	1.00[ASN][1000 genomes]
rs6754869	0.83[AMR][1000 genomes]
rs6755285	0.83[AMR][1000 genomes]
rs6755395	1.00[ASN][1000 genomes]
rs6757774	0.88[ASN][1000 genomes]
rs6758156	0.88[ASN][1000 genomes]
rs6758161	0.88[ASN][1000 genomes]
rs6758515	0.88[ASN][1000 genomes]
rs6758622	0.83[AMR][1000 genomes]
rs6761561	0.88[ASN][1000 genomes]
rs72960172	1.00[ASN][1000 genomes]
rs72960184	0.88[ASN][1000 genomes]
rs72960186	0.88[ASN][1000 genomes]
rs72960202	0.88[ASN][1000 genomes]
rs73966107	1.00[ASN][1000 genomes]
rs73966108	1.00[ASN][1000 genomes]
rs73968412	1.00[ASN][1000 genomes]
rs73968415	0.94[ASN][1000 genomes]
rs73968817	1.00[ASN][1000 genomes]
rs7556717	1.00[ASN][1000 genomes]
rs7557137	1.00[ASN][1000 genomes]
rs7559939	0.88[ASN][1000 genomes]
rs7559946	0.88[ASN][1000 genomes]
rs7561065	0.80[AMR][1000 genomes]
rs7562461	0.88[ASN][1000 genomes]
rs7562479	0.88[ASN][1000 genomes]
rs7562486	0.88[ASN][1000 genomes]
rs7562615	0.88[ASN][1000 genomes]
rs7564178	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7572119	0.88[ASN][1000 genomes]
rs7574684	0.88[ASN][1000 genomes]
rs7576749	0.88[ASN][1000 genomes]
rs7582096	0.80[AMR][1000 genomes]
rs7585713	0.80[AMR][1000 genomes]
rs7585898	0.88[ASN][1000 genomes]
rs7587333	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7596483	0.83[AMR][1000 genomes]
rs7597631	1.00[ASN][1000 genomes]
rs7597722	1.00[ASN][1000 genomes]
rs7606723	1.00[ASN][1000 genomes]
rs9308834	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv829583	chr2:101031032-101038750	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101034400-101037000	Weak transcription	Spleen	Spleen
2	chr2:101034400-101038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:101034600-101037000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:101034600-101037400	Weak transcription	Fetal Lung	lung
5	chr2:101034600-101038800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:101034600-101043000	Weak transcription	Placenta	Placenta
7	chr2:101034800-101038800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:101034800-101043800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:101035000-101040000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:101035200-101039800	Weak transcription	NHDF-Ad	bronchial
11	chr2:101035200-101040400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:101036200-101036600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:101036200-101039600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:101036200-101039600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:101036400-101036600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:101036400-101036600	Enhancers	Skeletal Muscle Female	skeletal muscle

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