Variant report

Variant	rs6713640
Chromosome Location	chr2:172065645-172065646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172064484..172066754-chr2:172100609..172102282,2	K562	blood:
2	chr2:172054543..172057052-chr2:172065152..172066694,2	K562	blood:
3	chr2:172015930..172017600-chr2:172064388..172066439,2	MCF-7	breast:
4	chr2:172065254..172067195-chr2:172089260..172091784,2	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10203397	0.81[EUR][1000 genomes]
rs1035250	1.00[ASW][hapmap];0.83[CEU][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10930459	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11674962	0.82[ASW][hapmap];0.83[CEU][hapmap];0.87[GIH][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs11687843	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11887065	0.90[EUR][1000 genomes]
rs11893921	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11893993	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12473405	0.90[EUR][1000 genomes]
rs13004356	0.83[EUR][1000 genomes]
rs17283355	0.82[TSI][hapmap]
rs4667676	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4667678	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4668372	0.90[EUR][1000 genomes]
rs4668374	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4668375	0.92[EUR][1000 genomes]
rs60254168	0.87[EUR][1000 genomes]
rs6433284	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6724085	0.83[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6737873	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7568175	0.87[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7582508	0.88[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	nsv979348	chr2:172057884-172068984	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
2	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172054600-172066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:172064800-172067400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:172065000-172065800	Enhancers	Dnd41	blood
4	chr2:172065000-172067200	Enhancers	K562	blood
5	chr2:172065200-172065800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:172065400-172065800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:172065400-172065800	Enhancers	GM12878-XiMat	blood
8	chr2:172065400-172066800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:172065600-172066400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:172065600-172066400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:172065600-172066600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:172065600-172066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:172065600-172066800	Weak transcription	Primary B cells from cord blood	blood
14	chr2:172065600-172066800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:172065600-172067000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:172065600-172067000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:172065600-172068800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:172065600-172069200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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