Variant report

Variant	rs60670183
Chromosome Location	chr22:30122084-30122085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30114234..30116768-chr22:30120016..30122557,3	MCF-7	breast:
2	chr22:30120187..30123071-chr22:30140004..30142315,2	K562	blood:

Variant related genes	Relation type
ENSG00000239446	Chromatin interaction
ENSG00000100314	Chromatin interaction
ENSG00000232396	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56783715	0.91[ASN][1000 genomes]
rs57014206	0.91[ASN][1000 genomes]
rs58113244	0.91[ASN][1000 genomes]
rs58808486	1.00[ASN][1000 genomes]
rs59172206	0.91[ASN][1000 genomes]
rs59237579	0.91[ASN][1000 genomes]
rs59422664	0.91[ASN][1000 genomes]
rs59698661	1.00[ASN][1000 genomes]
rs59902813	0.91[ASN][1000 genomes]
rs60020246	0.91[ASN][1000 genomes]
rs6006260	1.00[ASN][1000 genomes]
rs60751623	0.82[ASN][1000 genomes]
rs60965931	0.91[ASN][1000 genomes]
rs61399074	1.00[ASN][1000 genomes]
rs61432554	0.91[ASN][1000 genomes]
rs61740613	0.82[ASN][1000 genomes]
rs7285384	1.00[ASN][1000 genomes]
rs7288777	1.00[ASN][1000 genomes]
rs8136249	0.82[ASN][1000 genomes]
rs8139885	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv471194	chr22:30103476-30128380	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv471195	chr22:30103476-30128380	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30115800-30126200	Weak transcription	Gastric	stomach
2	chr22:30116600-30126400	Weak transcription	Aorta	Aorta
3	chr22:30117000-30137200	Weak transcription	HSMM	muscle
4	chr22:30117200-30126600	Weak transcription	Pancreas	Pancrea
5	chr22:30117200-30133800	Weak transcription	Right Atrium	heart
6	chr22:30117600-30124600	Weak transcription	Spleen	Spleen
7	chr22:30118600-30122800	Weak transcription	Fetal Brain Male	brain
8	chr22:30118800-30122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:30119000-30122800	Weak transcription	NH-A	brain
10	chr22:30119000-30126400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:30120600-30123600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:30121000-30125400	Weak transcription	Ovary	ovary
13	chr22:30121000-30126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr22:30121400-30122800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:30121400-30123200	Enhancers	K562	blood
16	chr22:30121400-30126800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr22:30121600-30122600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:30121600-30123000	Weak transcription	Fetal Brain Female	brain
19	chr22:30121800-30123000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr22:30122000-30123000	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr22:30122000-30123000	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr22:30122000-30126800	Weak transcription	Duodenum Mucosa	Duodenum

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