Variant report

Variant	rs2946595
Chromosome Location	chr2:101177130-101177131
allele	G/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	chr2:101176937-101177154	HepG2	liver:	n/a	chr2:101177043-101177054
2	FOXA2	chr2:101176909-101177141	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:101176816-101177180	HepG2	liver:	n/a	n/a
4	FOXA1	chr2:101176755-101177163	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:101176864..101179772-chr2:101619065..101621695,2	MCF-7	breast:
2	chr2:101176287..101178582-chr2:101217009..101219585,2	K562	blood:
3	chr2:100936347..100938622-chr2:101175344..101178245,2	K562	blood:

Variant related genes	Relation type
PDCL3	TF binding region
ENSG00000071082	Chromatin interaction
ENSG00000265839	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12151415	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2309849	0.89[ASN][1000 genomes]
rs34940694	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3748929	0.89[ASN][1000 genomes]
rs56407824	0.88[AMR][1000 genomes]
rs59729787	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61387584	0.92[ASN][1000 genomes]
rs62155209	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62155214	0.84[AMR][1000 genomes]
rs6705682	0.82[AMR][1000 genomes]
rs6728833	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6728834	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6731795	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101171800-101178400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:101172200-101177200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:101172200-101177200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:101172200-101177200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:101172400-101177800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:101172600-101177200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:101173200-101177800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:101173400-101177600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:101174000-101177800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:101174000-101178000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:101174600-101178400	Weak transcription	HSMMtube	muscle
12	chr2:101175800-101177800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:101176200-101177800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:101176400-101177600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:101176800-101178400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:101176800-101178400	Enhancers	HepG2	liver
17	chr2:101177000-101177200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:101177000-101178200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:101177000-101178400	Enhancers	Primary T cells from cord blood	blood
20	chr2:101177000-101178400	Enhancers	GM12878-XiMat	blood

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