Variant report

Variant	rs4498313
Chromosome Location	chr6:76054626-76054627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:76054292..76056386-chr6:76056570..76059314,2	MCF-7	breast:
2	chr6:76039197..76040840-chr6:76053935..76055529,2	K562	blood:
3	chr6:76046416..76050325-chr6:76053759..76057191,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10943241	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13220419	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2207600	0.81[EUR][1000 genomes]
rs2703668	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2703708	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2703711	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2703715	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2703716	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2748253	0.84[EUR][1000 genomes]
rs2808188	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808189	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2808190	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2808199	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2808201	0.94[ASN][1000 genomes]
rs2808208	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2842451	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2842452	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2842455	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2842461	0.84[EUR][1000 genomes]
rs2951934	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2951937	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2951939	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2951945	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2951946	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2951947	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2951949	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2951952	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2998371	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3935857	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4131550	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4273651	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4283851	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4295446	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4324739	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4361582	0.89[EUR][1000 genomes]
rs4380723	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4535511	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4541712	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4568415	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4588651	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4708178	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4708181	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6453824	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6453825	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6902022	0.88[EUR][1000 genomes]
rs6913979	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6921940	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6933680	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7451911	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7740648	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7753528	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7766441	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7772989	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9341514	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9343281	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9352203	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9352204	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9352205	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9352206	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9352207	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9443168	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9443171	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9689477	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
9	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76044600-76072800	Weak transcription	A549	lung
2	chr6:76044800-76058400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:76044800-76059000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:76044800-76059000	Weak transcription	Aorta	Aorta
5	chr6:76044800-76059000	Weak transcription	Fetal Brain Male	brain
6	chr6:76044800-76059000	Weak transcription	Ovary	ovary
7	chr6:76045000-76056800	Weak transcription	Fetal Stomach	stomach
8	chr6:76045000-76058600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:76045000-76058800	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:76046000-76057200	Weak transcription	Fetal Heart	heart
11	chr6:76046000-76058400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:76046200-76057000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:76046200-76057200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:76046400-76056800	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:76047200-76058600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:76047800-76058600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:76047800-76059000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:76048200-76055400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:76048400-76055200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:76053000-76055200	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:76053000-76059200	Weak transcription	Pancreas	Pancrea
22	chr6:76053800-76054800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr6:76054000-76054800	Enhancers	Placenta	Placenta
24	chr6:76054200-76054800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:76054200-76055600	Enhancers	Right Atrium	heart
26	chr6:76054400-76055600	Enhancers	Psoas Muscle	Psoas
27	chr6:76054400-76056800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:76054400-76059200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:76054600-76055200	Strong transcription	Left Ventricle	heart
30	chr6:76054600-76057200	Weak transcription	Fetal Lung	lung
31	chr6:76054600-76058400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:76054600-76059000	Weak transcription	Right Ventricle	heart

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