Variant report

Variant	rs5998979
Chromosome Location	chr22:33910062-33910063
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	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10428061	1.00[ASN][1000 genomes]
rs11912942	1.00[ASN][1000 genomes]
rs12157578	1.00[ASN][1000 genomes]
rs12158120	1.00[CEU][hapmap]
rs12158851	1.00[ASN][1000 genomes]
rs12160180	1.00[CEU][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs12160244	0.81[AFR][1000 genomes]
rs16992399	1.00[CEU][hapmap]
rs56033146	1.00[ASN][1000 genomes]
rs57779654	1.00[ASN][1000 genomes]
rs58141020	1.00[ASN][1000 genomes]
rs5994755	1.00[ASN][1000 genomes]
rs5994756	1.00[ASN][1000 genomes]
rs5994759	1.00[CEU][hapmap]
rs5994761	1.00[CEU][hapmap]
rs5994762	1.00[CEU][hapmap]
rs5994763	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994767	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994770	1.00[CEU][hapmap]
rs5998957	1.00[ASN][1000 genomes]
rs5998958	1.00[ASN][1000 genomes]
rs5998966	1.00[ASN][1000 genomes]
rs5998967	1.00[ASN][1000 genomes]
rs5998968	1.00[ASN][1000 genomes]
rs5998971	1.00[CEU][hapmap]
rs5998973	1.00[CEU][hapmap]
rs5998975	1.00[CEU][hapmap]
rs5998977	1.00[CEU][hapmap]
rs5998983	1.00[CEU][hapmap]
rs5998984	1.00[CEU][hapmap]
rs5998986	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998993	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998994	1.00[CEU][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5999003	1.00[ASN][1000 genomes]
rs5999004	1.00[ASN][1000 genomes]
rs5999005	1.00[ASN][1000 genomes]
rs5999011	1.00[ASN][1000 genomes]
rs60329459	1.00[ASN][1000 genomes]
rs61116783	1.00[ASN][1000 genomes]
rs6518831	1.00[ASN][1000 genomes]
rs7285886	1.00[ASN][1000 genomes]
rs7289701	1.00[CEU][hapmap]
rs7291415	1.00[CEU][hapmap]
rs7291626	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292590	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409058	1.00[ASN][1000 genomes]
rs8135091	1.00[ASN][1000 genomes]
rs8135817	1.00[ASN][1000 genomes]
rs9621704	1.00[ASN][1000 genomes]
rs9621705	1.00[ASN][1000 genomes]
rs9621706	1.00[ASN][1000 genomes]
rs9680562	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv914983	chr22:33800119-34035034	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1060283	chr22:33809137-34043739	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv544684	chr22:33809137-34043739	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1057547	chr22:33810445-33939474	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1065417	chr22:33823850-34053325	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv933309	chr22:33825232-34053000	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
14	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1063275	chr22:33847076-33934464	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv2751963	chr22:33855512-33935897	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1065776	chr22:33860774-33934464	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1064943	chr22:33862239-33934464	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1063011	chr22:33863218-33934464	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv914986	chr22:33863218-33967289	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv1067480	chr22:33865381-33934464	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv459877	chr22:33866854-33932624	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv588932	chr22:33866854-33932624	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv1066694	chr22:33868123-33928973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv544687	chr22:33868123-33928973	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv1060320	chr22:33875165-33911764	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv544688	chr22:33875165-33911764	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv3527364	chr22:33909766-33910318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv3527365	chr22:33909802-33910292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33885000-33915200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:33889200-33915000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr22:33893800-33915000	Weak transcription	GM12878-XiMat	blood
4	chr22:33901400-33911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:33903000-33911200	Weak transcription	Right Ventricle	heart
6	chr22:33904800-33915200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:33905400-33917200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:33906400-33935800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:33906600-33920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr22:33906800-33911600	Weak transcription	Fetal Intestine Large	intestine
11	chr22:33906800-33911800	Weak transcription	Gastric	stomach
12	chr22:33908600-33917000	Enhancers	HepG2	liver
13	chr22:33908800-33910200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:33908800-33910200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:33909000-33910200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr22:33909000-33910200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:33909000-33910200	Enhancers	Brain Cingulate Gyrus	brain
18	chr22:33909000-33910200	Enhancers	Brain Hippocampus Middle	brain
19	chr22:33909000-33910200	Enhancers	Fetal Heart	heart
20	chr22:33909000-33910200	Enhancers	Rectal Smooth Muscle	rectum
21	chr22:33909000-33910200	Enhancers	Stomach Smooth Muscle	stomach
22	chr22:33909000-33910200	Enhancers	NHDF-Ad	bronchial
23	chr22:33909200-33910200	Enhancers	Fetal Lung	lung
24	chr22:33909400-33910200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr22:33909400-33910200	Enhancers	Brain Substantia Nigra	brain
26	chr22:33909400-33911600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:33909400-33915000	Weak transcription	Brain Anterior Caudate	brain
28	chr22:33909400-33915600	Weak transcription	Fetal Kidney	kidney
29	chr22:33909400-33917000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr22:33909400-33920800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:33909600-33910400	Enhancers	Fetal Brain Male	brain
32	chr22:33909600-33911600	Weak transcription	Ovary	ovary
33	chr22:33909600-33911800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr22:33909600-33914400	Weak transcription	Fetal Stomach	stomach
35	chr22:33909600-33915000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:33909600-33915200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:33909600-33917000	Weak transcription	Aorta	Aorta
38	chr22:33909800-33910200	Enhancers	Stomach Mucosa	stomach
39	chr22:33909800-33910400	Enhancers	A549	lung
40	chr22:33909800-33911600	Weak transcription	Left Ventricle	heart
41	chr22:33909800-33914800	Weak transcription	Colon Smooth Muscle	Colon
42	chr22:33909800-33915200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr22:33909800-33915200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:33909800-33917200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr22:33909800-33920800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr22:33910000-33910200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:33910000-33910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:33910000-33911200	Weak transcription	Liver	Liver
49	chr22:33910000-33911200	Weak transcription	Brain Angular Gyrus	brain
50	chr22:33910000-33915200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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