Variant report

Variant	rs3024791
Chromosome Location	chr2:85895704-85895705
allele	A/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	TCF12	chr2:85895491-85896194	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr2:85895575-85896158	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85889712..85892300-chr2:85895263..85898036,2	MCF-7	breast:

Variant related genes	Relation type
SFTPB	TF binding region
ENSG00000168878	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34267211	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59494763	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[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	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874461	chr2:85853653-85939207	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv874464	chr2:85886175-85898898	Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85879600-85896000	Weak transcription	GM12878-XiMat	blood
2	chr2:85881800-85895800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:85883600-85900000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:85884800-85896600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:85886400-85901000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:85887000-85896200	Weak transcription	Fetal Brain Female	brain
7	chr2:85887000-85905800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:85890200-85896400	Weak transcription	Pancreas	Pancrea
9	chr2:85890800-85895800	Weak transcription	NH-A	brain
10	chr2:85891000-85905800	Weak transcription	Right Atrium	heart
11	chr2:85893000-85899200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr2:85893000-85903000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:85893200-85896600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:85894000-85905000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:85894200-85896200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:85895000-85896200	Enhancers	Osteobl	bone
17	chr2:85895000-85896400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:85895000-85896600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:85895200-85896000	Enhancers	A549	lung
20	chr2:85895200-85896200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:85895200-85896200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:85895400-85895800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr2:85895400-85896000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:85895400-85896000	Enhancers	Placenta	Placenta
25	chr2:85895400-85896200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:85895400-85896200	Enhancers	Fetal Lung	lung
27	chr2:85895400-85896200	Enhancers	NHLF	lung
28	chr2:85895400-85896400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:85895400-85896400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:85895400-85896400	Enhancers	NHDF-Ad	bronchial
31	chr2:85895400-85896600	Enhancers	Lung	lung
32	chr2:85895400-85897200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:85895600-85896000	Enhancers	Primary B cells from cord blood	blood
34	chr2:85895600-85896200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:85895600-85900800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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