Variant report

Variant	rs7985825
Chromosome Location	chr13:49136555-49136556
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1547660	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926595	1.00[ASN][1000 genomes]
rs1926596	0.91[ASN][1000 genomes]
rs1926597	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198564	0.85[ASN][1000 genomes]
rs198568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs198609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs198610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs198614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2274400	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs28414460	0.91[ASN][1000 genomes]
rs2854357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2854362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28646083	0.91[ASN][1000 genomes]
rs28674973	0.84[ASN][1000 genomes]
rs2897587	0.88[AFR][1000 genomes]
rs3092888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3092898	0.88[ASN][1000 genomes]
rs3751380	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs398158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs403390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs406098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151525	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs4151601	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs425834	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs427686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61074776	1.00[ASN][1000 genomes]
rs6561448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6561457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6561461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6561465	1.00[CEU][hapmap]
rs7325962	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7326934	0.95[YRI][hapmap]
rs7329039	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329865	0.88[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs73486867	1.00[ASN][1000 genomes]
rs73495016	0.88[ASN][1000 genomes]
rs7987935	0.91[ASN][1000 genomes]
rs7992129	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995216	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7996186	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs7996402	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316385	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9316401	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331959	0.91[ASN][1000 genomes]
rs9331965	0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9331973	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs9332054	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs9591172	1.00[ASN][1000 genomes]
rs9591177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9591178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595929	0.86[AFR][1000 genomes]
rs9595931	1.00[CEU][hapmap]

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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49134200-49137400	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr13:49134400-49137600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr13:49134600-49138000	Weak transcription	Osteobl	bone
4	chr13:49134800-49137800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr13:49135000-49136800	Enhancers	HepG2	liver
6	chr13:49135000-49137200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr13:49135000-49137200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr13:49135000-49137800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr13:49135000-49138600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr13:49135000-49140000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:49135200-49137200	Flanking Active TSS	GM12878-XiMat	blood
13	chr13:49135200-49141800	Weak transcription	Placenta	Placenta
14	chr13:49135400-49136800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr13:49135400-49137200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:49135600-49137000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr13:49135600-49137200	Enhancers	Duodenum Mucosa	Duodenum
18	chr13:49135600-49137200	Enhancers	K562	blood
19	chr13:49135800-49136600	Weak transcription	Fetal Thymus	thymus
20	chr13:49135800-49136800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:49135800-49137200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr13:49136000-49136600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr13:49136000-49136800	Enhancers	Primary B cells from peripheral blood	blood
24	chr13:49136200-49136600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr13:49136200-49136600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr13:49136200-49137000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr13:49136200-49137000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:49136200-49137000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr13:49136200-49137000	Enhancers	HMEC	breast
30	chr13:49136200-49137200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr13:49136200-49137200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr13:49136200-49137200	Enhancers	HSMM	muscle
33	chr13:49136400-49136600	Enhancers	Stomach Mucosa	stomach
34	chr13:49136400-49136800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:49136400-49136800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr13:49136400-49136800	Enhancers	Dnd41	blood
37	chr13:49136400-49137000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr13:49136400-49137000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr13:49136400-49137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:49136400-49137200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr13:49136400-49138000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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