Variant report

Variant	rs352042
Chromosome Location	chr4:74909180-74909181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74907375..74910324-chr4:74936842..74940272,3	K562	blood:
2	chr4:74906693..74909434-chr4:74919569..74922539,3	K562	blood:
3	chr4:74908077..74910007-chr4:74941278..74943027,2	K562	blood:
4	chr4:74902984..74906659-chr4:74908263..74910717,4	K562	blood:

Variant related genes	Relation type
ENSG00000248848	Chromatin interaction
ENSG00000163734	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs181272	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs352038	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs555728	1.00[TSI][hapmap]

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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv967996	chr4:74902400-74920659	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3443825	chr4:74903785-74964443	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74905400-74909400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:74905400-74910000	Weak transcription	HMEC	breast
3	chr4:74905400-74910400	Weak transcription	HUVEC	blood vessel
4	chr4:74905400-74910400	Weak transcription	NHLF	lung
5	chr4:74905400-74920400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:74905600-74909200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:74905600-74909800	Weak transcription	NHEK	skin
8	chr4:74905600-74910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:74905800-74909800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:74905800-74910000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:74905800-74910200	Weak transcription	Hela-S3	cervix
12	chr4:74905800-74910400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:74906000-74909800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:74906000-74910400	Weak transcription	NHDF-Ad	bronchial
15	chr4:74908200-74909800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:74908400-74909200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:74908400-74910800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr4:74908600-74909200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:74908600-74910000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr4:74908600-74910600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:74908600-74910800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr4:74908800-74909200	Weak transcription	A549	lung
23	chr4:74908800-74909400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:74909000-74910800	Enhancers	HSMM	muscle
25	chr4:74909000-74910800	Enhancers	Osteobl	bone

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