Variant report

Variant	rs168009
Chromosome Location	chr2:179062589-179062590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178937601..178939157-chr2:179060683..179062611,2	K562	blood:
2	chr2:179058031..179061324-chr2:179061963..179064461,5	MCF-7	breast:
3	chr2:179060830..179065562-chr2:179066300..179070960,4	K562	blood:
4	chr2:179061327..179064018-chr2:179074389..179076022,2	K562	blood:
5	chr2:178940431..178942693-chr2:179060357..179062621,2	K562	blood:

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10174910	1.00[JPT][hapmap]
rs10205083	1.00[JPT][hapmap]
rs10497475	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11894754	1.00[JPT][hapmap]
rs12996084	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13022619	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16866153	1.00[ASN][1000 genomes]
rs16866156	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16866169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16866191	1.00[GIH][hapmap]
rs16866202	0.85[CHD][hapmap]
rs170792	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17838554	1.00[ASN][1000 genomes]
rs334107	0.97[ASN][1000 genomes]
rs334114	0.97[ASN][1000 genomes]
rs334120	0.97[ASN][1000 genomes]
rs6726222	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs71423556	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179060600-179065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:179060600-179069800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:179060800-179070000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:179060800-179076200	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:179061000-179062600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:179061000-179062800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:179061000-179062800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:179061000-179069200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:179061000-179069800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:179061000-179070000	Weak transcription	Brain Substantia Nigra	brain
11	chr2:179061000-179070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:179061200-179068800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:179061400-179065000	Weak transcription	Psoas Muscle	Psoas
14	chr2:179061400-179069800	Weak transcription	HMEC	breast
15	chr2:179061600-179062600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:179061600-179070000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:179061800-179064000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:179062200-179062600	Enhancers	K562	blood
19	chr2:179062200-179069200	Weak transcription	Fetal Brain Male	brain
20	chr2:179062400-179069400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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