Variant report

Variant	rs333988
Chromosome Location	chr2:179131161-179131162
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12471986	0.86[EUR][1000 genomes]
rs13382863	0.95[ASN][1000 genomes]
rs2196154	1.00[JPT][hapmap]
rs333986	0.82[ASN][1000 genomes]
rs333987	1.00[ASN][1000 genomes]
rs333989	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs334602	0.81[EUR][1000 genomes]
rs334603	0.81[EUR][1000 genomes]
rs334606	0.81[EUR][1000 genomes]
rs334608	0.81[EUR][1000 genomes]
rs334611	0.85[EUR][1000 genomes]
rs334613	0.85[EUR][1000 genomes]
rs334619	1.00[JPT][hapmap]
rs334621	1.00[JPT][hapmap]
rs334626	1.00[JPT][hapmap]
rs4894005	0.86[EUR][1000 genomes]
rs62179160	0.86[EUR][1000 genomes]
rs62179161	0.86[EUR][1000 genomes]
rs62179165	0.86[EUR][1000 genomes]
rs6433718	0.86[EUR][1000 genomes]
rs6743122	0.86[EUR][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	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179111200-179137400	Weak transcription	Right Atrium	heart
2	chr2:179124200-179133200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:179124800-179134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:179126000-179136600	Weak transcription	Aorta	Aorta
5	chr2:179130200-179131400	Enhancers	Brain Anterior Caudate	brain
6	chr2:179130600-179131200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:179130600-179131200	Enhancers	HSMM	muscle
8	chr2:179130600-179131400	Enhancers	Fetal Muscle Leg	muscle
9	chr2:179130600-179131600	Enhancers	K562	blood
10	chr2:179130600-179134600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:179130800-179131200	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:179130800-179131200	Enhancers	Brain Hippocampus Middle	brain
13	chr2:179130800-179131400	Enhancers	Psoas Muscle	Psoas
14	chr2:179130800-179131600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:179130800-179132000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:179130800-179136000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:179131000-179131400	Enhancers	HSMMtube	muscle
18	chr2:179131000-179131800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:179131000-179135000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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