Variant report

Variant	rs4312730
Chromosome Location	chr4:48182433-48182434
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	chr4:48177121..48180289-chr4:48181668..48184747,3	MCF-7	breast:
2	chr4:48174022..48176386-chr4:48181420..48183923,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12499674	0.95[ASN][1000 genomes]
rs13136179	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13146265	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655249	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs2352592	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28578119	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235153	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4352448	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4694887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4695355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55869455	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447617	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6818552	0.95[ASN][1000 genomes]
rs6845258	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs9715214	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1011820	chr4:48170669-48186729	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011366	chr4:48173947-48186644	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1005668	chr4:48173947-48186729	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
2	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:48173800-48188400	Weak transcription	Lung	lung
4	chr4:48175800-48191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:48176000-48185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:48176000-48185200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:48176000-48185400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:48176200-48185200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:48178200-48185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:48178800-48185400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:48180200-48183200	Enhancers	Fetal Thymus	thymus
13	chr4:48180800-48187800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:48181000-48185400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:48181200-48185000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:48181200-48185200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:48181600-48184600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:48182000-48183400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:48182200-48183000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:48182200-48183200	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:48182200-48183200	Enhancers	HSMM	muscle
22	chr4:48182200-48183400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:48182200-48183400	Enhancers	GM12878-XiMat	blood
24	chr4:48182200-48184400	Weak transcription	K562	blood
25	chr4:48182400-48182800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:48182400-48182800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:48182400-48183000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr4:48182400-48183200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:48182400-48183200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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