Variant report

Variant	rs6845893
Chromosome Location	chr4:79593291-79593292
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79521039..79522736-chr4:79591795..79594005,2	K562	blood:
2	chr4:79534658..79536722-chr4:79591597..79593371,2	K562	blood:
3	chr4:79577461..79581484-chr4:79593008..79596742,3	K562	blood:
4	chr4:79592136..79594620-chr4:79610226..79611962,2	K562	blood:
5	chr4:79578298..79580592-chr4:79591764..79593779,3	MCF-7	breast:
6	chr4:79591872..79594686-chr4:79596540..79599402,2	K562	blood:
7	chr4:79591975..79594296-chr4:79697576..79699186,2	K562	blood:
8	chr4:79592147..79594296-chr4:79697006..79699186,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10001246	0.81[CEU][hapmap]
rs10007186	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10019240	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212636	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107606	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1108907	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11724268	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724602	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11728013	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731482	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733032	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11733269	0.81[CEU][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap]
rs11736376	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736602	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233694	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233707	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643488	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12646646	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12650411	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12711032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138005	0.90[CEU][hapmap];0.82[CHB][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1834518	0.86[EUR][1000 genomes]
rs1972024	0.82[EUR][1000 genomes]
rs28597797	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325799	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4073678	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073679	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074673	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074674	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075927	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077709	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270605	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306980	0.90[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs4353930	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632683	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643844	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975148	0.84[EUR][1000 genomes]
rs6533821	0.81[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap]
rs6533825	0.90[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs6533835	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533842	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533847	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6811335	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6811782	0.88[JPT][hapmap]
rs6812227	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814739	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819484	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824014	0.82[EUR][1000 genomes]
rs6829061	0.82[EUR][1000 genomes]
rs6829198	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834587	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835210	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835998	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6836513	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840592	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841654	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6846346	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6851341	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854055	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6858740	0.88[JPT][hapmap]
rs7317	0.94[ASW][hapmap];0.90[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs7657082	0.88[ASW][hapmap];0.90[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7669674	0.87[AMR][1000 genomes]
rs7669866	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7670506	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7680749	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680766	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682984	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689154	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9998136	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS 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	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6845893	PRDM8	cis	parietal	SCAN
rs6845893	ANXA3	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79586800-79595400	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:79588000-79594400	Enhancers	K562	blood
3	chr4:79588400-79593600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:79589400-79595400	Enhancers	Primary B cells from cord blood	blood
5	chr4:79590000-79593600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:79590000-79593600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:79590000-79595200	Weak transcription	NHDF-Ad	bronchial
8	chr4:79591200-79594800	Enhancers	Fetal Intestine Large	intestine
9	chr4:79591400-79594000	Enhancers	HepG2	liver
10	chr4:79591400-79594600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:79591400-79594600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:79591800-79594600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:79591800-79594600	Enhancers	Fetal Intestine Small	intestine
14	chr4:79592000-79593400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr4:79592200-79593400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:79592600-79594600	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:79592800-79594000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:79593000-79593400	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:79593000-79593800	Enhancers	Stomach Smooth Muscle	stomach
20	chr4:79593000-79594200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr4:79593200-79594200	Enhancers	Sigmoid Colon	Sigmoid Colon

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