Variant report

Variant	rs12996582
Chromosome Location	chr2:36645856-36645857
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36587314..36589813-chr2:36643724..36646171,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10184816	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018675	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs2023549	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs2049367	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2160366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28705335	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3732073	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.88[ASN][1000 genomes]
rs3770895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3770901	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3821160	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670146	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4670556	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4670557	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs68111949	0.85[EUR][1000 genomes]
rs888074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs918051	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2756915	chr2:36622906-36657305	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759041	chr2:36622906-36657305	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12996582	CEBPZ	cis	multi-tissue	Pritchard

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36632200-36648000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:36635800-36647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:36636000-36647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36636000-36647600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:36636800-36647600	Weak transcription	Lung	lung
6	chr2:36636800-36656000	Weak transcription	Esophagus	oesophagus
7	chr2:36638000-36647800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:36638200-36647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:36638400-36646400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:36639400-36647600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:36639600-36646600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:36639600-36647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:36639600-36647800	Weak transcription	Spleen	Spleen
14	chr2:36640000-36656000	Genic enhancers	A549	lung
15	chr2:36640200-36653400	Genic enhancers	HUVEC	blood vessel
16	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:36640400-36646800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:36640400-36647000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:36640400-36647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:36640800-36646400	Strong transcription	HSMM	muscle
21	chr2:36640800-36647400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:36640800-36651200	Weak transcription	HSMMtube	muscle
23	chr2:36641000-36650000	Weak transcription	NH-A	brain
24	chr2:36641200-36659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:36641400-36647400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:36641400-36647600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:36641400-36650400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:36641600-36651600	Enhancers	Fetal Heart	heart
29	chr2:36642200-36646000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:36642600-36646800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:36643000-36646200	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:36643000-36646600	Weak transcription	Small Intestine	intestine
33	chr2:36643600-36646000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr2:36643800-36646000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:36643800-36646200	Enhancers	Left Ventricle	heart
36	chr2:36643800-36646400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:36644000-36648200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:36644200-36647200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:36644200-36647600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:36644200-36648400	Weak transcription	Brain Germinal Matrix	brain
41	chr2:36644200-36651400	Weak transcription	Colonic Mucosa	Colon
42	chr2:36644200-36651600	Weak transcription	HMEC	breast
43	chr2:36644200-36657200	Weak transcription	Brain Anterior Caudate	brain
44	chr2:36644200-36660000	Weak transcription	Fetal Brain Female	brain
45	chr2:36644400-36646000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:36644400-36646200	Weak transcription	Brain Substantia Nigra	brain
47	chr2:36644400-36646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:36644400-36646600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:36644400-36647600	Weak transcription	Brain Angular Gyrus	brain
50	chr2:36644400-36647600	Weak transcription	Fetal Muscle Leg	muscle

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