Variant report

Variant	rs9332059
Chromosome Location	chr13:49068460-49068461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49063272..49066257-chr13:49067561..49069081,2	K562	blood:
2	chr13:49064757..49067579-chr13:49067581..49069606,2	K562	blood:

Variant related genes	Relation type
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs3092863	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151419	1.00[AFR][1000 genomes]
rs4151432	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151495	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151545	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151581	1.00[AFR][1000 genomes]
rs4151627	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7320277	1.00[AFR][1000 genomes]
rs7327171	1.00[AFR][1000 genomes]
rs7329387	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7333971	0.84[AFR][1000 genomes]
rs7982092	1.00[AFR][1000 genomes]
rs7982457	1.00[AFR][1000 genomes]
rs8000807	1.00[AFR][1000 genomes]
rs8002958	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9331979	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9331993	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9332001	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9332073	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9332306	1.00[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49023800-49073800	Weak transcription	NH-A	brain
2	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:49030600-49070600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:49034400-49073800	Weak transcription	Esophagus	oesophagus
5	chr13:49035200-49073400	Weak transcription	Fetal Intestine Small	intestine
6	chr13:49053600-49071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:49061400-49072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:49062600-49070800	Weak transcription	Fetal Brain Male	brain
10	chr13:49062800-49070400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:49062800-49072000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:49063200-49071000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:49064200-49069800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:49064200-49075200	Weak transcription	Fetal Intestine Large	intestine
16	chr13:49064400-49068800	Flanking Active TSS	Dnd41	blood
17	chr13:49064600-49070600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:49064800-49071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:49065000-49069800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:49065000-49070200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:49065400-49069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:49065400-49072000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:49065600-49069000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:49066600-49069000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr13:49066800-49073200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr13:49066800-49080200	Weak transcription	Colonic Mucosa	Colon
27	chr13:49067000-49068600	Enhancers	HUVEC	blood vessel
28	chr13:49067000-49068800	Enhancers	Liver	Liver
29	chr13:49067000-49068800	Enhancers	Fetal Thymus	thymus
30	chr13:49067000-49069000	Enhancers	HMEC	breast
31	chr13:49067000-49069000	Enhancers	HSMM	muscle
32	chr13:49067000-49069400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:49067000-49070200	Weak transcription	Aorta	Aorta
34	chr13:49067000-49071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:49067000-49071600	Weak transcription	HepG2	liver
36	chr13:49067000-49072800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:49067000-49074600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:49067000-49080200	Weak transcription	Psoas Muscle	Psoas
39	chr13:49067000-49084200	Weak transcription	Ovary	ovary
40	chr13:49067200-49068600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr13:49067200-49068600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr13:49067200-49068600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:49067200-49068600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:49067200-49068800	Enhancers	Primary T cells from cord blood	blood
45	chr13:49067200-49069000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr13:49067200-49069000	Enhancers	Primary hematopoietic stem cells	blood
47	chr13:49067200-49069000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr13:49067200-49069000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr13:49067200-49069000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:49067200-49069000	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links