Variant report

Variant	rs17018922
Chromosome Location	chr1:212490200-212490201
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11119911	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11119912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11119922	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11811668	0.80[AMR][1000 genomes]
rs12079314	0.91[AMR][1000 genomes]
rs6664170	0.92[YRI][hapmap];0.80[AMR][1000 genomes]
rs6672767	0.96[YRI][hapmap];0.80[AMR][1000 genomes]
rs6676208	0.88[YRI][hapmap]
rs6691835	0.96[YRI][hapmap];0.80[AMR][1000 genomes]
rs6696716	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1806604	chr1:212468974-212505860	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
2	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:212466600-212503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:212467400-212526000	Weak transcription	A549	lung
5	chr1:212474200-212502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:212478200-212495800	Weak transcription	Fetal Thymus	thymus
7	chr1:212479200-212525400	Weak transcription	Aorta	Aorta
8	chr1:212484000-212503000	Weak transcription	Fetal Stomach	stomach
9	chr1:212484000-212506600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:212484200-212493400	Weak transcription	K562	blood
11	chr1:212484200-212507000	Weak transcription	HepG2	liver
12	chr1:212484400-212490400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:212484400-212493400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:212484400-212496200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:212484400-212502800	Weak transcription	Thymus	Thymus
16	chr1:212484400-212506800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:212484600-212490600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:212484600-212492400	Weak transcription	Dnd41	blood
19	chr1:212484600-212507200	Weak transcription	Right Ventricle	heart
20	chr1:212484800-212503000	Weak transcription	Fetal Intestine Small	intestine
21	chr1:212486000-212504000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:212486000-212507000	Weak transcription	Brain Anterior Caudate	brain
23	chr1:212486200-212526000	Weak transcription	HUVEC	blood vessel
24	chr1:212486400-212492000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:212486600-212502200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:212486600-212506800	Weak transcription	Ovary	ovary
27	chr1:212486800-212503600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:212487200-212506600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:212487400-212491000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:212487600-212492200	Weak transcription	Primary B cells from cord blood	blood
31	chr1:212487800-212491000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:212487800-212493400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:212487800-212502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:212488000-212502600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:212488200-212490400	Enhancers	Primary T cells from cord blood	blood
36	chr1:212488200-212492600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:212488600-212490200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:212488600-212490200	Enhancers	Brain Substantia Nigra	brain
39	chr1:212488600-212490800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:212488800-212490200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:212489000-212491000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr1:212489000-212492800	Enhancers	Adipose Nuclei	Adipose
43	chr1:212489000-212502400	Weak transcription	GM12878-XiMat	blood
44	chr1:212489200-212490200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:212489400-212490200	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:212489400-212490600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:212489400-212490600	Enhancers	Fetal Intestine Large	intestine
48	chr1:212489400-212495600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:212489600-212490400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:212489600-212490800	Weak transcription	Liver	Liver

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