Variant report

Variant	rs7984753
Chromosome Location	chr13:49082447-49082448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49081743..49084542-chr13:49085954..49089235,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs4151570	1.00[AMR][1000 genomes]
rs4151577	1.00[AMR][1000 genomes]
rs4151619	0.86[AFR][1000 genomes]
rs4151630	0.86[AFR][1000 genomes]
rs6561447	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6561450	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6561451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6561453	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6561454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7317090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7321483	0.95[AFR][1000 genomes]
rs7322265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7322855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7325162	0.87[AFR][1000 genomes]
rs7332828	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7334590	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7987986	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7988909	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7989808	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331963	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331967	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332004	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332006	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332010	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332020	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332023	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332024	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332027	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332039	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332041	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332047	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9332074	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9332077	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9332081	1.00[YRI][hapmap];0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:49067000-49084200	Weak transcription	Ovary	ovary
4	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
7	chr13:49068000-49105600	Weak transcription	Gastric	stomach
8	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
10	chr13:49071800-49086200	Strong transcription	Fetal Stomach	stomach
11	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr13:49072000-49088400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:49072200-49085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:49073200-49085800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:49073600-49087800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:49074800-49083000	Weak transcription	Fetal Intestine Small	intestine
18	chr13:49075400-49085800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:49075600-49093400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:49075600-49095200	Weak transcription	Fetal Intestine Large	intestine
21	chr13:49075800-49086000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:49075800-49088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:49075800-49093200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:49076000-49083000	Weak transcription	Fetal Lung	lung
25	chr13:49076000-49084800	Weak transcription	Liver	Liver
26	chr13:49076000-49085800	Weak transcription	Fetal Kidney	kidney
27	chr13:49076600-49084800	Weak transcription	Brain Germinal Matrix	brain
28	chr13:49076600-49097400	Weak transcription	Pancreas	Pancrea
29	chr13:49077000-49085800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:49078000-49084400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:49078200-49083400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:49078600-49083000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:49078600-49083200	Enhancers	HMEC	breast
34	chr13:49078800-49084600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:49079600-49091000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:49079600-49092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:49079800-49083000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:49080000-49084200	Weak transcription	Fetal Heart	heart
39	chr13:49080400-49085800	Weak transcription	Psoas Muscle	Psoas
40	chr13:49080600-49085600	Weak transcription	Aorta	Aorta
41	chr13:49080600-49085800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr13:49080600-49087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:49080600-49105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:49080800-49083800	Weak transcription	Small Intestine	intestine
45	chr13:49080800-49085800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr13:49080800-49086200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:49080800-49087400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:49080800-49102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr13:49080800-49105400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr13:49081000-49085600	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links