Variant report

Variant	rs334068
Chromosome Location	chr2:179005438-179005439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:179005435-179005444	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:179004851-179005578	K562	blood:	n/a	n/a
3	POLR2A	chr2:179004372-179005892	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179004405..179005970-chr2:179057281..179059891,2	MCF-7	breast:

Variant related genes	Relation type
RNU5E-9P	TF binding region
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1025446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12613853	0.95[JPT][hapmap]
rs13006877	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866111	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16866116	0.94[JPT][hapmap]
rs2276622	0.85[JPT][hapmap]
rs2366366	0.95[JPT][hapmap]
rs334058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334061	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334062	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178978000-179016400	Weak transcription	Gastric	stomach
2	chr2:178987200-179005800	Weak transcription	Psoas Muscle	Psoas
3	chr2:178987800-179017000	Weak transcription	Fetal Lung	lung
4	chr2:178990200-179007000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:178991000-179009600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:178991200-179007400	Weak transcription	Osteobl	bone
7	chr2:178992400-179007800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:178993200-179016800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:178994400-179007200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:178994400-179007200	Weak transcription	HSMMtube	muscle
11	chr2:178994600-179005800	Weak transcription	Liver	Liver
12	chr2:178994600-179007000	Weak transcription	Fetal Kidney	kidney
13	chr2:178997800-179006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:178997800-179008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:179000200-179006000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:179000200-179007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:179000400-179005600	Weak transcription	A549	lung
18	chr2:179000400-179007200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:179001600-179007200	Weak transcription	HSMM	muscle
20	chr2:179002200-179007200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:179002400-179007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:179002400-179016800	Weak transcription	Adipose Nuclei	Adipose
23	chr2:179002800-179007200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:179005400-179006200	Enhancers	Pancreatic Islets	Pancreatic Islet

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