Variant report

Variant	rs62309331
Chromosome Location	chr4:48181776-48181777
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: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11931912	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17655249	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1961973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805180	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4446283	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs45598338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309332	0.96[AFR][1000 genomes];0.99[EUR][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
3	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:48173800-48188400	Weak transcription	Lung	lung
5	chr4:48175800-48191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:48176000-48185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:48176000-48185200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:48176000-48185400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:48176200-48185200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:48177600-48182200	Weak transcription	HSMM	muscle
11	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:48178200-48182200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:48178200-48185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:48178800-48185400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:48179600-48182200	ZNF genes & repeats	GM12878-XiMat	blood
16	chr4:48180200-48183200	Enhancers	Fetal Thymus	thymus
17	chr4:48180800-48182400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:48180800-48182400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:48180800-48187800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:48181000-48182000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:48181000-48185400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:48181200-48182200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:48181200-48185000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:48181200-48185200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:48181600-48182400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:48181600-48184600	Enhancers	Primary monocytes fromperipheralblood	blood

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