Variant report

Variant	rs5999016
Chromosome Location	chr22:33965912-33965913
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	chr22:33964224..33966733-chr22:33974082..33975978,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10428061	0.84[EUR][1000 genomes]
rs12159204	1.00[CEU][hapmap]
rs16992556	1.00[CEU][hapmap]
rs2267230	0.97[ASN][1000 genomes]
rs2267231	0.97[ASN][1000 genomes]
rs2283919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3819664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4417800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs5994773	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs5999003	1.00[CEU][hapmap]
rs5999011	0.84[EUR][1000 genomes]
rs5999012	0.95[ASN][1000 genomes]
rs5999013	1.00[CEU][hapmap]
rs5999014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs61501786	0.83[ASN][1000 genomes]
rs6518831	0.84[EUR][1000 genomes]
rs8136420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv914987	chr22:33920421-34047427	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1063312	chr22:33963672-33983973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv588933	chr22:33963790-33978458	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv588934	chr22:33965639-34035034	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33917400-33966800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:33940800-33970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:33946000-33974600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr22:33949600-33975400	Weak transcription	Ovary	ovary
5	chr22:33952400-33969400	Weak transcription	A549	lung
6	chr22:33958400-33967000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:33959200-33966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:33959400-33974800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:33960000-33966000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:33960000-33993000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:33960400-33969200	Weak transcription	Fetal Intestine Large	intestine
12	chr22:33961000-33969200	Weak transcription	Fetal Intestine Small	intestine
13	chr22:33962600-33967400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:33963400-33966200	Enhancers	Fetal Kidney	kidney
15	chr22:33963600-33966400	Enhancers	Right Ventricle	heart
16	chr22:33963800-33966200	Enhancers	Fetal Heart	heart
17	chr22:33963800-33966600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:33964000-33966200	Enhancers	Primary hematopoietic stem cells	blood
19	chr22:33964000-33966200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr22:33964000-33966200	Enhancers	Left Ventricle	heart
21	chr22:33964000-33966200	Enhancers	HepG2	liver
22	chr22:33964000-33966400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:33964000-33966400	Enhancers	Spleen	Spleen
24	chr22:33964200-33966000	Enhancers	Right Atrium	heart
25	chr22:33964600-33966200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:33964600-33966400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:33964800-33966000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr22:33964800-33966200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:33964800-33966200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:33964800-33966200	Enhancers	Fetal Stomach	stomach
31	chr22:33964800-33966400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:33964800-33967000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:33965000-33966000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:33965000-33966200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:33965000-33966200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr22:33965000-33966400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr22:33965000-33966400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr22:33965000-33966600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr22:33965000-33966800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr22:33965000-33966800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:33965200-33966000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr22:33965200-33966000	Enhancers	Brain Angular Gyrus	brain
43	chr22:33965200-33966000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr22:33965200-33966200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr22:33965200-33966400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr22:33965200-33971400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr22:33965200-33976000	Enhancers	Primary B cells from peripheral blood	blood
48	chr22:33965200-34045800	Weak transcription	Pancreas	Pancrea
49	chr22:33965400-33966200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:33965400-33966200	Enhancers	Liver	Liver

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