Variant report

Variant	rs6687813
Chromosome Location	chr1:169477574-169477575
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169431261..169433752-chr1:169476428..169478805,3	K562	blood:
2	chr1:169452842..169455607-chr1:169476881..169480160,5	K562	blood:
3	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
4	chr1:169461542..169463578-chr1:169476860..169479328,2	K562	blood:
5	chr1:169475668..169477747-chr1:169479800..169482071,3	MCF-7	breast:
6	chr1:169475712..169478057-chr1:169524218..169526063,2	MCF-7	breast:
7	chr1:169452842..169460813-chr1:169474364..169480814,10	K562	blood:
8	chr1:169451858..169456935-chr1:169476541..169486862,15	MCF-7	breast:
9	chr1:169474592..169479041-chr1:169479760..169483418,4	K562	blood:
10	chr1:169476802..169481525-chr1:169483770..169486854,5	K562	blood:

No data

No data

No data

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1018827	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10737547	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2213868	0.88[AMR][1000 genomes]
rs2420370	0.86[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2420371	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2420372	0.85[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4264045	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6009	1.00[ASW][hapmap];0.86[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs6025	1.00[CHD][hapmap]
rs6427194	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6427195	0.86[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6427196	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6427197	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6670848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682179	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9332582	0.86[ASW][hapmap];1.00[YRI][hapmap]
rs9332666	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs970740	0.86[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
D-dimer levels	21502573	GWAS catalog

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169473800-169477600	Weak transcription	Stomach Mucosa	stomach
2	chr1:169475800-169481600	Enhancers	Liver	Liver
3	chr1:169476600-169478600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr1:169476800-169478200	Flanking Active TSS	HepG2	liver
5	chr1:169476800-169478400	Enhancers	A549	lung
6	chr1:169477200-169477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:169477200-169478200	Enhancers	Primary T cells from cord blood	blood
8	chr1:169477200-169478400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:169477400-169477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:169477400-169477600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:169477400-169477800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:169477400-169477800	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:169477400-169478200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:169477400-169478200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:169477400-169478400	Flanking Active TSS	K562	blood
16	chr1:169477400-169478600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:169477400-169479400	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:169477400-169479800	Enhancers	HUVEC	blood vessel

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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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