Variant report

Variant	rs1477180
Chromosome Location	chr2:172105844-172105845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11691073	0.89[CEU][hapmap]
rs11694321	0.89[CEU][hapmap]
rs13003130	0.83[CEU][hapmap]
rs13023973	0.89[CEU][hapmap]
rs13031794	0.89[CEU][hapmap]
rs13419135	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1811271	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1987418	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2111459	0.89[CEU][hapmap]
rs4668380	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs888273	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9653289	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr2:172102800-172127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172103200-172120000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172103600-172107000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:172103800-172106800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:172104000-172107200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:172104400-172106400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:172104400-172106600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:172104600-172106000	Enhancers	Fetal Thymus	thymus
9	chr2:172105000-172106600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:172105200-172106400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:172105200-172106600	Enhancers	Primary T cells from cord blood	blood
12	chr2:172105200-172106600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:172105200-172106800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:172105200-172106800	Enhancers	GM12878-XiMat	blood
15	chr2:172105200-172107000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:172105200-172107000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:172105200-172107200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:172105400-172106800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:172105600-172106200	Enhancers	Dnd41	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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