Variant report

Variant	rs1384604
Chromosome Location	chr12:56244063-56244064
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56239277..56240846-chr12:56243300..56245389,2	MCF-7	breast:
2	chr12:56212745..56216725-chr12:56242057..56244419,3	K562	blood:
3	chr12:56240938..56242512-chr12:56243413..56245568,2	MCF-7	breast:
4	chr12:56239688..56242373-chr12:56243822..56246712,2	K562	blood:
5	chr12:56239542..56242387-chr12:56243822..56247751,5	K562	blood:

Variant related genes	Relation type
ENSG00000257390	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2046293	1.00[AFR][1000 genomes]
rs2231462	1.00[ASW][hapmap]
rs7301691	1.00[AFR][1000 genomes]
rs772700	1.00[LWK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers 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	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56240800-56245000	Enhancers	Right Atrium	heart
2	chr12:56242000-56244200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:56242000-56244200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:56242000-56244400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:56242000-56246200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:56242200-56244200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:56242600-56244400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:56242800-56245000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:56242800-56245000	Enhancers	Adipose Nuclei	Adipose
10	chr12:56242800-56245000	Enhancers	HSMM	muscle
11	chr12:56242800-56245000	Enhancers	NHDF-Ad	bronchial
12	chr12:56242800-56245000	Enhancers	Osteobl	bone
13	chr12:56242800-56245200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:56242800-56245400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:56243400-56245000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:56243400-56245000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:56243800-56244200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:56243800-56245000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:56243800-56245000	Enhancers	Fetal Muscle Leg	muscle
20	chr12:56243800-56245200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:56244000-56244200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:56244000-56244200	Enhancers	Brain Anterior Caudate	brain
23	chr12:56244000-56244800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:56244000-56244800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:56244000-56245000	Enhancers	HSMMtube	muscle
26	chr12:56244000-56245200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:56244000-56245200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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