Variant report

Variant	rs55983388
Chromosome Location	chr6:121583415-121583416
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	chr6:121577643..121580353-chr6:121583189..121585636,2	K562	blood:
2	chr6:121577028..121580353-chr6:121583189..121585636,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1273719	0.94[ASN][1000 genomes]
rs17083186	0.94[ASN][1000 genomes]
rs17083373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083415	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083440	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154	1.00[ASN][1000 genomes]
rs2133990	1.00[ASN][1000 genomes]
rs2186097	0.97[ASN][1000 genomes]
rs2892765	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072142	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132315	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305755	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371872	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584021	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55731091	0.94[ASN][1000 genomes]
rs55799213	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55975505	0.83[AFR][1000 genomes]
rs56000113	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56927912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58124381	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61047660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61293964	1.00[ASN][1000 genomes]
rs6903467	1.00[ASN][1000 genomes]
rs6919916	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6920055	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920884	0.97[ASN][1000 genomes]
rs6925413	1.00[ASN][1000 genomes]
rs6941089	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73526695	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73528541	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73768932	1.00[ASN][1000 genomes]
rs73768938	1.00[ASN][1000 genomes]
rs7451033	1.00[ASN][1000 genomes]
rs7741356	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742071	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743455	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744891	1.00[ASN][1000 genomes]
rs7749984	1.00[ASN][1000 genomes]
rs7751636	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755977	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757350	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7759798	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761551	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765795	1.00[ASN][1000 genomes]
rs7767417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768813	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7769067	0.94[ASN][1000 genomes]
rs9490148	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121536600-121585400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:121536800-121584400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:121537000-121584600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:121541200-121585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:121567200-121588000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:121570600-121584600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:121571600-121583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:121572800-121583600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:121573600-121584600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:121573800-121584200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:121573800-121584800	Weak transcription	Fetal Intestine Large	intestine
12	chr6:121573800-121586600	Weak transcription	Fetal Lung	lung
13	chr6:121573800-121587000	Weak transcription	Fetal Kidney	kidney
14	chr6:121575000-121606400	Weak transcription	NH-A	brain
15	chr6:121579600-121584800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:121580400-121584600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:121580400-121584600	Weak transcription	Brain Anterior Caudate	brain
18	chr6:121581000-121589200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:121581200-121588000	Weak transcription	Aorta	Aorta
20	chr6:121581400-121584800	Weak transcription	Fetal Brain Male	brain
21	chr6:121582000-121583600	Strong transcription	Dnd41	blood
22	chr6:121582000-121583800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:121582000-121588400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:121582000-121589000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:121582200-121588000	Weak transcription	Pancreas	Pancrea
26	chr6:121582200-121603400	Weak transcription	HSMMtube	muscle
27	chr6:121582400-121584000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:121582400-121588000	Weak transcription	Placenta	Placenta
29	chr6:121582400-121588200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:121582400-121588400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:121582400-121590400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:121582600-121583800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:121582600-121584200	Weak transcription	Lung	lung
34	chr6:121582600-121584600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:121582600-121587800	Weak transcription	Ovary	ovary
36	chr6:121582600-121588000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:121582600-121588400	Weak transcription	Gastric	stomach
38	chr6:121582600-121588400	Weak transcription	Left Ventricle	heart
39	chr6:121582800-121583800	Weak transcription	Primary T cells from cord blood	blood
40	chr6:121582800-121587800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:121582800-121587800	Weak transcription	Fetal Intestine Small	intestine
42	chr6:121582800-121588000	Weak transcription	Fetal Stomach	stomach
43	chr6:121583000-121584800	Weak transcription	Primary B cells from cord blood	blood
44	chr6:121583200-121584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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