Variant report

Variant	rs6749658
Chromosome Location	chr2:149173826-149173827
allele	C/T
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:3)

rs_ID	r²[population]
rs10196996	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34937608	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875277	chr2:149094415-149178974	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875278	chr2:149094415-149201775	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv875279	chr2:149111470-149201775	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv875280	chr2:149115432-149198275	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875281	chr2:149115432-149206943	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149148600-149178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:149172000-149174400	ZNF genes & repeats	Primary B cells from cord blood	blood
3	chr2:149172600-149205000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:149173200-149174200	Weak transcription	Psoas Muscle	Psoas
5	chr2:149173400-149174000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:149173400-149174000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
7	chr2:149173600-149174200	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr2:149173600-149174400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr2:149173800-149174000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:149173800-149174000	Enhancers	HepG2	liver
11	chr2:149173800-149174200	ZNF genes & repeats	Aorta	Aorta
12	chr2:149173800-149174200	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr2:149173800-149174200	Enhancers	Gastric	stomach
14	chr2:149173800-149174800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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