Variant report

Variant	rs4242227
Chromosome Location	chr5:167190672-167190673
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	chr5:167185874..167188275-chr5:167189453..167191702,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1459068	1.00[YRI][hapmap]
rs1459070	1.00[YRI][hapmap]
rs2909802	0.85[YRI][hapmap]
rs2911501	0.88[AFR][1000 genomes]
rs2911502	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs2973661	0.85[YRI][hapmap];0.91[AFR][1000 genomes]
rs2973662	0.85[YRI][hapmap];0.91[AFR][1000 genomes]
rs2973665	1.00[AFR][1000 genomes]
rs2973668	1.00[AFR][1000 genomes]
rs4637571	0.85[YRI][hapmap]
rs4868805	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4869071	1.00[AFR][1000 genomes]
rs6863622	0.83[YRI][hapmap]
rs963184	0.85[YRI][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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167182200-167191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167183400-167197200	Weak transcription	HSMMtube	muscle
3	chr5:167184000-167191800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167185000-167192800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:167185200-167193000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167186800-167191200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:167186800-167197200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:167188000-167191600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:167189000-167191400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:167189600-167192800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:167190000-167191600	Enhancers	HMEC	breast
12	chr5:167190000-167192600	Enhancers	NHEK	skin
13	chr5:167190200-167192000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:167190400-167190800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:167190400-167191400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:167190400-167192000	Enhancers	NH-A	brain
17	chr5:167190400-167192200	Enhancers	Osteobl	bone
18	chr5:167190600-167191200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:167190600-167191600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:167190600-167191800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:167190600-167192400	Enhancers	NHDF-Ad	bronchial
22	chr5:167190600-167195600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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