Variant report

Variant	rs1615978
Chromosome Location	chr12:42901471-42901472
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42896669..42898577-chr12:42900249..42903063,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10880310	0.97[ASN][1000 genomes]
rs10880312	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11181528	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11181541	0.94[ASN][1000 genomes]
rs11181546	0.82[JPT][hapmap]
rs12317317	0.94[ASN][1000 genomes]
rs1669930	0.97[ASN][1000 genomes]
rs1669943	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1796345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1796346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2600930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582399	0.94[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42878600-42904800	Weak transcription	Right Atrium	heart
2	chr12:42878800-42902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:42885400-42913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:42886800-42904800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:42889800-42902800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:42890600-42905800	Weak transcription	Osteobl	bone
7	chr12:42891000-42910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:42893000-42901800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:42898400-42914000	Weak transcription	NH-A	brain
10	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
11	chr12:42898600-42902400	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:42898600-42904400	Weak transcription	HUVEC	blood vessel
13	chr12:42898600-42910400	Weak transcription	Fetal Stomach	stomach
14	chr12:42899000-42910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:42900600-42901600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:42900600-42902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:42900600-42903400	Enhancers	Fetal Heart	heart
18	chr12:42900800-42901600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:42901000-42901600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:42901000-42901600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:42901000-42901600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:42901000-42901600	Enhancers	HSMM	muscle
23	chr12:42901200-42902800	Weak transcription	HSMMtube	muscle
24	chr12:42901200-42903000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:42901200-42905800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:42901400-42901600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:42901400-42901600	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:42901400-42901600	Enhancers	Ovary	ovary
29	chr12:42901400-42902400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:42901400-42905200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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