Variant report

Variant	rs4318375
Chromosome Location	chr2:64044827-64044828
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	chr2:64044766..64046674-chr2:64057658..64060630,2	MCF-7	breast:
2	chr2:64044260..64047678-chr2:64065821..64070525,5	K562	blood:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10168446	0.81[ASN][1000 genomes]
rs10199273	0.83[ASN][1000 genomes]
rs10865343	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs11125987	0.83[ASN][1000 genomes]
rs11677338	0.86[ASN][1000 genomes]
rs11682249	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12612549	0.85[CHB][hapmap]
rs12991311	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs13006124	0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs17619717	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4072113	0.85[CHB][hapmap]
rs4616468	0.83[ASN][1000 genomes]
rs6546031	0.86[ASN][1000 genomes]
rs6546036	0.82[ASN][1000 genomes]
rs6546046	0.85[CHB][hapmap]
rs6726257	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6742187	0.86[ASN][1000 genomes]
rs7596262	0.85[CHB][hapmap]
rs7597935	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64029200-64045200	Weak transcription	Adipose Nuclei	Adipose
2	chr2:64034600-64046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:64041800-64045200	Weak transcription	HSMM	muscle
4	chr2:64041800-64045400	Weak transcription	HSMMtube	muscle
5	chr2:64041800-64047000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:64041800-64054200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:64042000-64047000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:64042400-64046800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:64042400-64046800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:64042800-64046800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:64042800-64046800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:64042800-64052400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:64043000-64046600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:64043000-64047600	Weak transcription	NHLF	lung
15	chr2:64043200-64046400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:64043800-64045200	Weak transcription	NH-A	brain
17	chr2:64043800-64046400	Weak transcription	Aorta	Aorta
18	chr2:64043800-64046600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:64043800-64046800	Weak transcription	Psoas Muscle	Psoas
20	chr2:64043800-64046800	Weak transcription	NHDF-Ad	bronchial
21	chr2:64043800-64047600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:64043800-64049400	Enhancers	Liver	Liver
23	chr2:64044000-64045200	Weak transcription	HepG2	liver
24	chr2:64044000-64045200	Weak transcription	Osteobl	bone
25	chr2:64044000-64047000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:64044200-64045200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:64044200-64046600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:64044200-64054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:64044800-64046000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:64044800-64046000	Enhancers	Muscle Satellite Cultured Cells	--

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