Variant report

Variant	rs334031
Chromosome Location	chr2:179086043-179086044
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs334026	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs334034	1.00[YRI][hapmap];0.94[AFR][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	chr2:179076600-179087600	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:179076600-179088000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:179077200-179088200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:179077200-179089600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:179078600-179086200	Weak transcription	HMEC	breast
6	chr2:179078600-179091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:179078800-179088400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:179079000-179088200	Weak transcription	Fetal Brain Female	brain
9	chr2:179079000-179101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:179084000-179086800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:179084400-179088600	Weak transcription	Psoas Muscle	Psoas
12	chr2:179084400-179089200	Weak transcription	HSMM	muscle
13	chr2:179084600-179088000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:179084600-179094800	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:179085200-179086200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:179085800-179087800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:179085800-179088600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:179085800-179090600	Weak transcription	Aorta	Aorta
19	chr2:179086000-179086200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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