Variant report

Variant	rs2698347
Chromosome Location	chr3:111036223-111036224
allele	C/T
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:20)

rs_ID	r²[population]
rs13086151	0.84[CEU][hapmap]
rs1352502	1.00[ASN][1000 genomes]
rs1387225	0.92[ASN][1000 genomes]
rs2634535	1.00[ASN][1000 genomes]
rs2698354	0.96[ASN][1000 genomes]
rs2698355	0.96[ASN][1000 genomes]
rs2932040	0.98[ASN][1000 genomes]
rs2932041	1.00[ASN][1000 genomes]
rs2932042	1.00[ASN][1000 genomes]
rs2950974	0.98[ASN][1000 genomes]
rs2950975	0.98[ASN][1000 genomes]
rs2958081	0.96[ASN][1000 genomes]
rs2958084	0.98[ASN][1000 genomes]
rs2971351	1.00[ASN][1000 genomes]
rs2971352	1.00[ASN][1000 genomes]
rs4682255	0.84[CEU][hapmap]
rs7648997	0.98[ASN][1000 genomes]
rs979870	0.96[ASN][1000 genomes]
rs9833532	0.84[CEU][hapmap]
rs997029	0.98[ASN][1000 genomes]

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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv829675	chr3:110885605-111101858	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv877339	chr3:110889974-111070554	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111031200-111041800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:111031400-111042600	Enhancers	Dnd41	blood
3	chr3:111033200-111042000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:111033600-111040800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:111033600-111044200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:111034000-111042400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:111034200-111039600	Weak transcription	Fetal Thymus	thymus
8	chr3:111034200-111040600	Weak transcription	Thymus	Thymus
9	chr3:111034200-111042000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:111034200-111042400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:111034800-111043600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:111035200-111039600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:111035200-111040600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:111035200-111040600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:111035200-111040600	Weak transcription	Fetal Intestine Small	intestine
16	chr3:111035200-111040600	Weak transcription	Stomach Mucosa	stomach
17	chr3:111035400-111040600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:111035400-111040600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:111035400-111040600	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:111035400-111040600	Weak transcription	HMEC	breast
21	chr3:111035400-111044200	Weak transcription	HSMMtube	muscle
22	chr3:111035600-111040400	Weak transcription	Hela-S3	cervix
23	chr3:111035600-111040600	Weak transcription	HSMM	muscle

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