Variant report

Variant	rs62401700
Chromosome Location	chr6:31024492-31024493
allele	C/T
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31018538..31021131-chr6:31024335..31025981,2	K562	blood:
2	chr6:30852059..30854208-chr6:31023741..31026311,2	MCF-7	breast:
3	chr6:30710166..30712547-chr6:31022395..31024749,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC22-1	chr6:31021984-31027653	XLOC_005243
2	lnc-MUC22-1	chr6:31023487-31024687	ENSG00000228789
3	lnc-MUC22-1	chr6:31023995-31024687	ENSG00000228789.2
4	lnc-MUC22-1	chr6:31023487-31024687	NONHSAT108710

No data

Variant related genes	Relation type
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137331	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2523868	0.93[ASN][1000 genomes]
rs62399060	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62399061	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62399063	0.85[AFR][1000 genomes]
rs62399064	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62399065	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62399066	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62401699	0.93[ASN][1000 genomes]
rs6928038	0.83[ASN][1000 genomes]
rs72502536	0.83[ASN][1000 genomes]
rs72502537	0.83[ASN][1000 genomes]
rs72502538	0.83[ASN][1000 genomes]
rs72502540	0.83[ASN][1000 genomes]
rs9262570	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884130	chr6:31014305-31038756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv884131	chr6:31014305-31040725	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv970677	chr6:31020994-31026537	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3370627	chr6:31021373-31025571	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv511865	chr6:31023160-31026119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv524716	chr6:31023524-31024808	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31009600-31027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:31022200-31024600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:31022200-31024800	Weak transcription	Brain Germinal Matrix	brain
4	chr6:31022200-31025400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:31022200-31025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:31022200-31025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:31022200-31027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:31022400-31024800	Weak transcription	Brain Anterior Caudate	brain
10	chr6:31022400-31026600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:31022600-31026400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:31022600-31028200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:31022800-31026600	Enhancers	NHEK	skin
14	chr6:31023200-31027600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:31023200-31028200	Enhancers	HMEC	breast
16	chr6:31023600-31024600	Weak transcription	HSMMtube	muscle
17	chr6:31023800-31027200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:31024200-31026600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:31024400-31025000	Flanking Active TSS	Esophagus	oesophagus
20	chr6:31024400-31025200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:31024400-31027200	Enhancers	Cortex derived primary cultured neurospheres	brain

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