Variant report

Variant	rs7748968
Chromosome Location	chr6:73839456-73839457
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:73326966..73327836-chr6:73839389..73839934,2	MCF-7	breast:
2	chr6:73121580..73122582-chr6:73839170..73840509,9	MCF-7	breast:
3	chr6:73325865..73326790-chr6:73839227..73840215,3	MCF-7	breast:
4	chr6:73121805..73122626-chr6:73839312..73840201,4	MCF-7	breast:
5	chr6:73325918..73327224-chr6:73839102..73840270,6	MCF-7	breast:
6	chr6:73414396..73415444-chr6:73839415..73839971,4	MCF-7	breast:
7	chr6:73324743..73325282-chr6:73839253..73840155,2	MCF-7	breast:
8	chr6:73331578..73332186-chr6:73839406..73840248,2	MCF-7	breast:
9	chr6:73121764..73122558-chr6:73839387..73840029,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185760	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1113015	0.84[JPT][hapmap]
rs1113016	0.85[ASN][1000 genomes]
rs11962533	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs11965567	0.85[ASN][1000 genomes]
rs11968396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.87[ASN][1000 genomes]
rs1418414	0.83[ASN][1000 genomes]
rs1573057	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs16883380	0.84[MEX][hapmap]
rs16883384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2051024	0.94[MEX][hapmap];1.00[TSI][hapmap]
rs6453633	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs6904597	0.85[ASN][1000 genomes]
rs6906825	0.88[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap]
rs6907569	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs6911409	0.86[JPT][hapmap]
rs6911751	0.88[ASW][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap]
rs6912022	0.88[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs6927120	0.85[ASN][1000 genomes]
rs6927134	1.00[CEU][hapmap]
rs6933440	0.86[JPT][hapmap];0.90[MEX][hapmap]
rs73452858	0.85[ASN][1000 genomes]
rs73452859	0.85[ASN][1000 genomes]
rs73452861	0.85[ASN][1000 genomes]
rs7739692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7743399	0.85[ASN][1000 genomes]
rs7744386	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs7744394	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs7760644	0.84[JPT][hapmap]
rs7764373	0.84[MEX][hapmap]
rs7772526	0.86[JPT][hapmap];0.90[MEX][hapmap]
rs9293920	0.90[MEX][hapmap]
rs9341404	0.86[JPT][hapmap]
rs9341408	1.00[CEU][hapmap]
rs9442891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9442892	1.00[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9442893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9442895	0.88[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs9446844	0.86[JPT][hapmap]
rs9446846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9446848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9446856	0.88[CHB][hapmap];0.85[JPT][hapmap]

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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73818000-73846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:73821000-73849800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:73821400-73839600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:73830800-73839600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:73831000-73839600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:73831200-73841600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:73831400-73839600	Weak transcription	HSMMtube	muscle
8	chr6:73831600-73839600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:73831800-73843600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:73832000-73841600	Weak transcription	HSMM	muscle
11	chr6:73832400-73841400	Weak transcription	Primary B cells from cord blood	blood
12	chr6:73834000-73844000	Weak transcription	Primary T cells from cord blood	blood
13	chr6:73834400-73841400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:73839200-73854400	Weak transcription	Aorta	Aorta
15	chr6:73839400-73839600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:73839400-73839600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:73839400-73839800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:73839400-73839800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:73839400-73839800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:73839400-73839800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:73839400-73839800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:73839400-73839800	Enhancers	Fetal Heart	heart
23	chr6:73839400-73839800	Active TSS	Stomach Smooth Muscle	stomach
24	chr6:73839400-73839800	Active TSS	Osteobl	bone
25	chr6:73839400-73840000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:73839400-73840000	Enhancers	A549	lung
27	chr6:73839400-73840200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:73839400-73840200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:73839400-73840200	Enhancers	GM12878-XiMat	blood
30	chr6:73839400-73840400	Enhancers	HMEC	breast
31	chr6:73839400-73840400	Enhancers	NHEK	skin

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