Variant report

Variant	rs334112
Chromosome Location	chr2:179068918-179068919
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179058967..179061891-chr2:179067858..179070116,2	MCF-7	breast:
2	chr2:179067726..179069566-chr2:179085904..179088027,2	K562	blood:
3	chr2:179060830..179065562-chr2:179066300..179070960,4	K562	blood:

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs334108	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334109	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334113	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179060600-179069800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:179060800-179070000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:179060800-179076200	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:179061000-179069200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:179061000-179069800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:179061000-179070000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:179061000-179070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:179061400-179069800	Weak transcription	HMEC	breast
9	chr2:179061600-179070000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:179062200-179069200	Weak transcription	Fetal Brain Male	brain
11	chr2:179062400-179069400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:179062800-179069600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:179064600-179069600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:179065000-179069000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:179065000-179069400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:179066800-179069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:179067200-179069000	Weak transcription	K562	blood
18	chr2:179068600-179069800	Weak transcription	NH-A	brain
19	chr2:179068800-179069000	Enhancers	Brain Angular Gyrus	brain
20	chr2:179068800-179070000	Enhancers	Brain Anterior Caudate	brain
21	chr2:179068800-179070000	Enhancers	Right Atrium	heart
22	chr2:179068800-179070200	Enhancers	Psoas Muscle	Psoas
23	chr2:179068800-179072400	Enhancers	Skeletal Muscle Female	skeletal muscle

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