Variant report

Variant	rs334606
Chromosome Location	chr2:179172615-179172616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179171520..179173076-chr2:179314449..179316277,2	MCF-7	breast:
2	chr2:179167816..179170887-chr2:179172364..179174355,4	K562	blood:
3	chr2:179059212..179062127-chr2:179171066..179172701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000180228	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10182749	0.89[ASN][1000 genomes]
rs13386703	0.84[ASN][1000 genomes]
rs13400415	0.89[ASN][1000 genomes]
rs13404410	0.88[ASN][1000 genomes]
rs16866226	0.85[ASN][1000 genomes]
rs16866231	0.88[ASN][1000 genomes]
rs16866247	0.89[ASN][1000 genomes]
rs333988	0.81[EUR][1000 genomes]
rs334599	0.83[EUR][1000 genomes]
rs334602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334611	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334613	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55682490	0.89[ASN][1000 genomes]
rs55707762	0.89[ASN][1000 genomes]
rs55992481	0.89[ASN][1000 genomes]
rs56002997	0.89[ASN][1000 genomes]
rs58505502	0.89[ASN][1000 genomes]
rs62176071	0.81[EUR][1000 genomes]
rs62176072	0.81[EUR][1000 genomes]
rs73032523	0.81[EUR][1000 genomes]
rs7559125	0.81[EUR][1000 genomes]
rs7559527	0.81[EUR][1000 genomes]
rs7570485	0.81[EUR][1000 genomes]
rs7576995	0.89[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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:179155600-179174200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:179160200-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:179161600-179173600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:179162000-179174200	Weak transcription	Adipose Nuclei	Adipose
6	chr2:179162400-179179800	Weak transcription	Liver	Liver
7	chr2:179163800-179174200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:179164000-179173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:179164200-179180400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:179164600-179173800	Weak transcription	HMEC	breast
11	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
12	chr2:179165200-179173600	Weak transcription	Esophagus	oesophagus
13	chr2:179165200-179177800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:179165400-179174800	Weak transcription	Gastric	stomach
15	chr2:179166800-179179400	Weak transcription	Psoas Muscle	Psoas
16	chr2:179167000-179179400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:179167000-179179400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:179171000-179179000	Weak transcription	Brain Angular Gyrus	brain
19	chr2:179171600-179175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:179171600-179182000	Weak transcription	HSMM	muscle
21	chr2:179171800-179173800	Weak transcription	NHEK	skin
22	chr2:179171800-179179800	Weak transcription	K562	blood
23	chr2:179172000-179173600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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