Variant report

Variant	rs17594990
Chromosome Location	chr2:33713648-33713649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10495790	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12468338	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17013131	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17013132	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17013153	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17013160	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17594787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1798854	chr2:33708860-33720009	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	2 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	chr2:33703600-33715600	Weak transcription	Spleen	Spleen
2	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:33705000-33714000	Weak transcription	Right Ventricle	heart
4	chr2:33706000-33714400	Weak transcription	Right Atrium	heart
5	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
6	chr2:33710600-33714400	Weak transcription	Left Ventricle	heart
7	chr2:33710800-33714200	Weak transcription	Fetal Heart	heart
8	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:33712800-33718600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:33712800-33718800	Enhancers	Psoas Muscle	Psoas
11	chr2:33713000-33713800	Flanking Active TSS	GM12878-XiMat	blood
12	chr2:33713200-33713800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr2:33713200-33715400	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:33713200-33715600	Enhancers	NHDF-Ad	bronchial
15	chr2:33713400-33714000	Weak transcription	Primary B cells from cord blood	blood
16	chr2:33713400-33714600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:33713400-33716000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:33713600-33713800	Enhancers	Brain Substantia Nigra	brain
19	chr2:33713600-33715000	Enhancers	Brain Hippocampus Middle	brain

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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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