Variant report

Variant	rs12630983
Chromosome Location	chr3:43296326-43296327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13086456	0.89[ASN][1000 genomes]
rs17320695	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57684209	0.81[ASN][1000 genomes]
rs71323190	0.84[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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43285800-43298400	Weak transcription	Left Ventricle	heart
3	chr3:43289800-43296400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:43289800-43297400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:43290000-43296400	Weak transcription	Lung	lung
6	chr3:43290400-43299400	Weak transcription	Right Atrium	heart
7	chr3:43290800-43296600	Weak transcription	Spleen	Spleen
8	chr3:43290800-43300800	Weak transcription	Brain Anterior Caudate	brain
9	chr3:43294000-43296400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:43294200-43296400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:43294200-43300800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:43294800-43296400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:43295000-43296400	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:43295200-43296600	Enhancers	K562	blood
15	chr3:43295800-43296600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:43296000-43296600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:43296200-43296600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr3:43296200-43297800	Enhancers	Stomach Smooth Muscle	stomach
19	chr3:43296200-43300600	Enhancers	Primary monocytes fromperipheralblood	blood

Quick Search:

Input of quick search could be:

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

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