Variant report

Variant	rs2366157
Chromosome Location	chr2:179074676-179074677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179073555..179076011-chr2:179081432..179084304,2	K562	blood:
2	chr2:179061327..179064018-chr2:179074389..179076022,2	K562	blood:
3	chr2:178971934..178973879-chr2:179073615..179075497,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128655	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10197166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930827	0.87[JPT][hapmap]
rs12185670	0.82[JPT][hapmap]
rs13403689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186736	0.86[JPT][hapmap]
rs333996	0.86[JPT][hapmap]
rs334002	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs334005	0.86[JPT][hapmap]
rs334007	0.86[JPT][hapmap]
rs334013	0.80[JPT][hapmap]
rs334014	0.80[JPT][hapmap]
rs334017	0.86[JPT][hapmap]
rs334024	0.87[JPT][hapmap]
rs334028	0.86[JPT][hapmap]
rs334035	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334037	0.87[JPT][hapmap]
rs334040	0.86[JPT][hapmap];0.81[MEX][hapmap]
rs334042	0.84[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs334045	0.84[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs334102	0.93[JPT][hapmap]
rs334103	0.93[JPT][hapmap]
rs334110	0.93[JPT][hapmap];0.84[MKK][hapmap]
rs6719178	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6747743	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73028670	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73028675	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7419749	0.87[JPT][hapmap]
rs7581504	0.94[ASW][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9989738	0.80[JPT][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2366157	LOC100130691	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179060800-179076200	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:179070000-179076400	Weak transcription	Right Atrium	heart
3	chr2:179070200-179075400	Weak transcription	Psoas Muscle	Psoas
4	chr2:179070200-179075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:179070200-179076200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:179070200-179076400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:179070400-179075800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:179070600-179075800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:179070600-179076000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:179070800-179077200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:179071000-179075200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:179071000-179076600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:179071200-179075800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:179071400-179078000	Weak transcription	HMEC	breast
15	chr2:179072000-179075800	Weak transcription	K562	blood
16	chr2:179072000-179078000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:179072400-179075000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:179074000-179077800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:179074200-179076200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr2:179074600-179075600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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