Variant report

Variant	rs13145415
Chromosome Location	chr4:30823157-30823158
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	chr4:30821360..30824099-chr4:30824392..30825995,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12509289	0.86[CEU][hapmap]
rs1374650	0.83[TSI][hapmap]
rs1823196	0.86[CEU][hapmap]
rs1823197	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs2121656	0.85[CEU][hapmap]
rs4128784	1.00[YRI][hapmap]
rs958274	0.86[CEU][hapmap];0.81[TSI][hapmap]

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	nsv4285	chr4:30815642-30838784	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv499039	chr4:30819213-30830142	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13145415	RAP1GAP2	trans	parietal	SCAN
rs13145415	PHF19	trans	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30795800-30824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:30813800-30835800	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:30817600-30824000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:30818600-30823600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:30820400-30824600	Weak transcription	Aorta	Aorta
6	chr4:30820800-30823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:30821200-30823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:30821600-30823200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:30821600-30823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:30821800-30823400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:30822600-30823800	Enhancers	Hela-S3	cervix
12	chr4:30822600-30823800	Enhancers	HSMM	muscle
13	chr4:30822800-30823200	Enhancers	HMEC	breast
14	chr4:30822800-30824400	Enhancers	Fetal Heart	heart
15	chr4:30823000-30823200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:30823000-30823200	Enhancers	Ovary	ovary
17	chr4:30823000-30823200	Enhancers	Right Ventricle	heart
18	chr4:30823000-30823200	Enhancers	NH-A	brain
19	chr4:30823000-30823400	Enhancers	Fetal Stomach	stomach
20	chr4:30823000-30823600	Enhancers	Stomach Smooth Muscle	stomach
21	chr4:30823000-30824000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:30823000-30824200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:30823000-30824200	Enhancers	HSMMtube	muscle
24	chr4:30823000-30825000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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