Variant report

Variant	rs12470652
Chromosome Location	chr2:48921438-48921439
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	chr1:110595729..110598402-chr2:48919078..48921573,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10201719	1.00[CEU][hapmap]
rs10204790	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10495954	1.00[TSI][hapmap]
rs12469348	1.00[TSI][hapmap]
rs12471874	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12478427	0.87[EUR][1000 genomes]
rs13396590	1.00[CEU][hapmap]
rs6747134	1.00[CEU][hapmap]

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	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48918000-48926400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:48919000-48922800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:48919000-48923400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:48919200-48923400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:48919400-48923000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:48919600-48922400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:48919600-48922600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:48919800-48926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:48920000-48921800	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:48920200-48921600	Enhancers	Ovary	ovary
11	chr2:48920200-48926600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:48920400-48926600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:48920600-48921800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:48920600-48922000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:48920600-48922000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:48920600-48922000	Enhancers	NHLF	lung
17	chr2:48920800-48921600	Enhancers	Fetal Kidney	kidney
18	chr2:48920800-48921600	Enhancers	NHEK	skin
19	chr2:48920800-48921600	Enhancers	Osteobl	bone
20	chr2:48920800-48922000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:48920800-48922200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:48921000-48921800	Active TSS	NH-A	brain
23	chr2:48921000-48922000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:48921200-48921600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:48921200-48922200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:48921200-48922200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:48921200-48922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:48921200-48923200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:48921400-48921600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:48921400-48921600	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:48921400-48921800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:48921400-48921800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr2:48921400-48921800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr2:48921400-48921800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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