Variant report

Variant	rs73394884
Chromosome Location	chr22:30268872-30268873
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30208644..30211473-chr22:30268127..30270343,2	MCF-7	breast:
2	chr22:30267624..30270362-chr22:30273098..30276358,3	K562	blood:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs2051858	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2051859	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107673	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2158535	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232904	1.00[AMR][1000 genomes]
rs56822704	0.87[AFR][1000 genomes]
rs56836109	1.00[AMR][1000 genomes]
rs57349783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57561197	1.00[AMR][1000 genomes]
rs57631440	1.00[AMR][1000 genomes]
rs57889745	1.00[AMR][1000 genomes]
rs58198399	1.00[AMR][1000 genomes]
rs58564057	0.89[AFR][1000 genomes]
rs58906954	1.00[AMR][1000 genomes]
rs59632146	1.00[AMR][1000 genomes]
rs59732153	1.00[AMR][1000 genomes]
rs6006286	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60093195	0.89[AFR][1000 genomes]
rs60098050	0.96[AFR][1000 genomes]
rs60416116	1.00[AMR][1000 genomes]
rs60573683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60613378	1.00[AMR][1000 genomes]
rs60751132	0.86[AFR][1000 genomes]
rs61310283	1.00[AMR][1000 genomes]
rs7291683	0.89[AFR][1000 genomes]
rs73390962	1.00[AMR][1000 genomes]
rs73390967	1.00[AMR][1000 genomes]
rs73390968	1.00[AMR][1000 genomes]
rs73392820	1.00[AMR][1000 genomes]
rs73392847	1.00[AMR][1000 genomes]
rs73392870	1.00[AMR][1000 genomes]
rs73392874	1.00[AMR][1000 genomes]
rs73392878	1.00[AMR][1000 genomes]
rs73392892	1.00[AMR][1000 genomes]
rs73392894	1.00[AMR][1000 genomes]
rs73394839	1.00[AMR][1000 genomes]
rs73394864	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394865	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394872	1.00[AMR][1000 genomes]
rs73394875	1.00[AMR][1000 genomes]
rs73394881	1.00[AFR][1000 genomes]
rs73394885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394890	1.00[AMR][1000 genomes]
rs73394892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396803	1.00[AMR][1000 genomes]
rs73396810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396818	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396822	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396826	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396828	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396830	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396831	0.88[AFR][1000 genomes]
rs73396841	0.89[AFR][1000 genomes]
rs73396843	0.96[AFR][1000 genomes]
rs73396848	0.87[AFR][1000 genomes]
rs73396856	0.96[AFR][1000 genomes]
rs73396863	0.89[AFR][1000 genomes]
rs73396872	0.87[AFR][1000 genomes]
rs73396885	0.96[AFR][1000 genomes]
rs73396896	0.96[AFR][1000 genomes]
rs73396902	0.93[AFR][1000 genomes]
rs73398629	0.89[AFR][1000 genomes]
rs73398630	0.87[AFR][1000 genomes]
rs73398647	0.83[AFR][1000 genomes]
rs73398654	0.92[AFR][1000 genomes]
rs73398659	0.92[AFR][1000 genomes]
rs73398662	0.92[AFR][1000 genomes]
rs73398664	0.92[AFR][1000 genomes]
rs73398683	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30265800-30269200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:30265800-30270200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:30266800-30269400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr22:30266800-30270000	Enhancers	Psoas Muscle	Psoas
5	chr22:30267000-30269000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr22:30267200-30269000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:30267600-30269000	Enhancers	Adipose Nuclei	Adipose
8	chr22:30267600-30269200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:30267600-30269400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr22:30267600-30269400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:30267600-30269600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr22:30267600-30270200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr22:30267800-30269000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr22:30267800-30269400	Enhancers	Primary hematopoietic stem cells	blood
15	chr22:30267800-30270000	Enhancers	Primary B cells from cord blood	blood
16	chr22:30268000-30269000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:30268000-30269200	Weak transcription	NHEK	skin
18	chr22:30268000-30269600	Enhancers	Pancreas	Pancrea
19	chr22:30268200-30269000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:30268200-30269600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr22:30268200-30270200	Enhancers	Spleen	Spleen
22	chr22:30268400-30269400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr22:30268600-30273800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:30268800-30269400	Weak transcription	Right Atrium	heart
25	chr22:30268800-30270000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:30268800-30270000	Weak transcription	GM12878-XiMat	blood
27	chr22:30268800-30277800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:30268800-30279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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