Variant report

Variant	rs4670592
Chromosome Location	chr2:36929467-36929468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36928747..36929575-chr2:36997645..36998372,2	MCF-7	breast:
2	chr2:36928366..36930832-chr2:36932347..36935302,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10460526	0.89[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];0.85[LWK][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10865115	0.91[CHD][hapmap];0.86[ASN][1000 genomes]
rs11684801	0.81[EUR][1000 genomes]
rs12465428	0.83[EUR][1000 genomes]
rs17491260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2192889	0.81[EUR][1000 genomes]
rs34467917	0.81[EUR][1000 genomes]
rs35145811	0.87[EUR][1000 genomes]
rs35326069	0.83[EUR][1000 genomes]
rs35430590	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35559768	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670155	0.82[EUR][1000 genomes]
rs4670157	0.84[EUR][1000 genomes]
rs4670584	0.82[EUR][1000 genomes]
rs4670585	0.83[EUR][1000 genomes]
rs4670588	0.81[EUR][1000 genomes]
rs4670591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs67003556	0.87[EUR][1000 genomes]
rs67139069	0.81[EUR][1000 genomes]
rs72801345	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv873878	chr2:36908661-36942266	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1794298	chr2:36924040-36929933	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4670592	C2orf56	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36925200-36930600	Weak transcription	A549	lung
2	chr2:36925200-36931400	Weak transcription	HSMMtube	muscle
3	chr2:36925600-36932600	Weak transcription	Right Atrium	heart
4	chr2:36925800-36931000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:36925800-36931400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:36925800-36931600	Weak transcription	Osteobl	bone
7	chr2:36926600-36930000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:36926600-36931400	Weak transcription	NHDF-Ad	bronchial
9	chr2:36927000-36931600	Weak transcription	Adipose Nuclei	Adipose
10	chr2:36927200-36932400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:36927200-36932400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:36927600-36929800	Enhancers	Placenta	Placenta
13	chr2:36927600-36930200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:36927600-36930200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:36927600-36931400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:36928000-36930000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:36928200-36930000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:36928400-36929800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:36928800-36930000	Enhancers	HMEC	breast
20	chr2:36928800-36930200	Enhancers	NHEK	skin
21	chr2:36928800-36930400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:36929000-36930000	Enhancers	Ovary	ovary
23	chr2:36929000-36930400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:36929000-36938600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:36929200-36929600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:36929200-36929600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:36929200-36929600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:36929200-36930200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:36929200-36930400	Enhancers	Esophagus	oesophagus
30	chr2:36929200-36930400	Enhancers	Hela-S3	cervix
31	chr2:36929200-36934000	Weak transcription	NH-A	brain
32	chr2:36929400-36930200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:36929400-36932600	Weak transcription	Fetal Lung	lung
34	chr2:36929400-36934600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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