Variant report

Variant	rs1678173
Chromosome Location	chr2:231400585-231400586
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1102957	0.89[ASN][1000 genomes]
rs1104327	0.81[ASN][1000 genomes]
rs13000851	0.81[ASN][1000 genomes]
rs1649902	0.83[ASN][1000 genomes]
rs2434050	0.81[ASN][1000 genomes]
rs62195461	0.81[ASN][1000 genomes]
rs6717269	0.81[ASN][1000 genomes]
rs6740016	0.81[ASN][1000 genomes]
rs836236	0.81[ASN][1000 genomes]
rs836238	0.81[ASN][1000 genomes]
rs836239	0.81[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875948	chr2:231380697-231420401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv584673	chr2:231385231-231433237	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:231390600-231403800	Weak transcription	Ovary	ovary
3	chr2:231390600-231404000	Weak transcription	Left Ventricle	heart
4	chr2:231390600-231404000	Weak transcription	Lung	lung
5	chr2:231390600-231408200	Weak transcription	Esophagus	oesophagus
6	chr2:231390800-231405600	Weak transcription	Thymus	Thymus
7	chr2:231390800-231409200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:231391000-231406400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:231394200-231401600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:231395800-231400800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:231398000-231405600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:231398400-231406200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:231398600-231404000	Weak transcription	Aorta	Aorta
14	chr2:231399000-231404200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:231399600-231405000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:231399800-231404000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:231400200-231404600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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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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