Variant report

Variant	rs73390967
Chromosome Location	chr22:30118259-30118260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30118032..30120779-chr22:30154984..30156711,2	K562	blood:
2	chr22:30117740..30119771-chr22:30165612..30167453,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs2051858	1.00[AMR][1000 genomes]
rs2051859	1.00[AMR][1000 genomes]
rs2107672	1.00[AMR][1000 genomes]
rs2107673	1.00[AMR][1000 genomes]
rs2158535	1.00[AMR][1000 genomes]
rs2232904	1.00[AMR][1000 genomes]
rs56836109	1.00[AMR][1000 genomes]
rs57349783	1.00[AMR][1000 genomes]
rs57561197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57631440	1.00[AMR][1000 genomes]
rs57889745	1.00[AMR][1000 genomes]
rs58198399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58906954	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58967191	0.82[AFR][1000 genomes]
rs59632146	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59732153	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006286	1.00[AMR][1000 genomes]
rs60416116	1.00[AMR][1000 genomes]
rs60573683	1.00[AMR][1000 genomes]
rs60613378	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61310283	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390962	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392820	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392870	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392874	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392878	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392892	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392894	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394839	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394864	1.00[AMR][1000 genomes]
rs73394865	1.00[AMR][1000 genomes]
rs73394872	1.00[AMR][1000 genomes]
rs73394875	1.00[AMR][1000 genomes]
rs73394884	1.00[AMR][1000 genomes]
rs73394885	1.00[AMR][1000 genomes]
rs73394887	1.00[AMR][1000 genomes]
rs73394890	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394892	1.00[AMR][1000 genomes]
rs73394897	1.00[AMR][1000 genomes]
rs73396803	1.00[AMR][1000 genomes]
rs73396810	1.00[AMR][1000 genomes]
rs73396811	1.00[AMR][1000 genomes]
rs73396818	1.00[AMR][1000 genomes]
rs73396822	1.00[AMR][1000 genomes]
rs73396823	1.00[AMR][1000 genomes]
rs73396826	1.00[AMR][1000 genomes]
rs73396827	1.00[AMR][1000 genomes]
rs73396828	1.00[AMR][1000 genomes]
rs73396830	1.00[AMR][1000 genomes]
rs73396886	0.82[AFR][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	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
13	esv3400132	chr22:30115377-30118325	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island 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	chr22:30115400-30118600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr22:30115800-30126200	Weak transcription	Gastric	stomach
3	chr22:30116600-30126400	Weak transcription	Aorta	Aorta
4	chr22:30117000-30118400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr22:30117000-30118600	Bivalent Enhancer	NH-A	brain
6	chr22:30117000-30137200	Weak transcription	HSMM	muscle
7	chr22:30117200-30119400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:30117200-30126600	Weak transcription	Pancreas	Pancrea
9	chr22:30117200-30133800	Weak transcription	Right Atrium	heart
10	chr22:30117400-30118600	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr22:30117600-30119400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr22:30117600-30124600	Weak transcription	Spleen	Spleen
13	chr22:30117800-30118600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:30117800-30118800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:30118000-30119000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:30118000-30119000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:30118000-30119000	Active TSS	Fetal Brain Female	brain
18	chr22:30118000-30120000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr22:30118200-30118400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:30118200-30118600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:30118200-30118800	Bivalent Enhancer	HMEC	breast

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