Variant report

Variant	rs34360275
Chromosome Location	chr13:49708903-49708904
allele	A/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:65)

rs_ID	r²[population]
rs12872974	0.89[EUR][1000 genomes]
rs1359066	0.89[EUR][1000 genomes]
rs1407827	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407829	0.91[EUR][1000 genomes]
rs1535922	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1928109	0.86[AFR][1000 genomes]
rs1937181	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1983805	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2021622	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2146748	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2181537	0.90[EUR][1000 genomes]
rs2181538	0.90[EUR][1000 genomes]
rs2181539	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2183095	0.84[AFR][1000 genomes]
rs2224742	0.86[ASN][1000 genomes]
rs2897633	0.81[EUR][1000 genomes]
rs2994377	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2994378	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2994379	0.84[EUR][1000 genomes]
rs2994380	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2994381	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3012117	0.86[AFR][1000 genomes]
rs3012127	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3012135	0.81[AFR][1000 genomes]
rs3012136	0.82[AFR][1000 genomes]
rs35018425	0.84[EUR][1000 genomes]
rs4142065	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4245350	0.84[EUR][1000 genomes]
rs4530025	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4942800	0.88[EUR][1000 genomes]
rs6561493	0.88[EUR][1000 genomes]
rs6561496	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6561497	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6561504	0.82[EUR][1000 genomes]
rs67235936	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7139819	0.87[EUR][1000 genomes]
rs716722	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7317908	0.84[EUR][1000 genomes]
rs7318871	0.89[EUR][1000 genomes]
rs7331917	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7333285	0.84[EUR][1000 genomes]
rs7338529	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7990573	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994845	0.85[EUR][1000 genomes]
rs7994910	0.80[EUR][1000 genomes]
rs7996151	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316428	0.81[EUR][1000 genomes]
rs9526525	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535140	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9535141	0.88[EUR][1000 genomes]
rs9535145	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535146	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9535147	0.89[EUR][1000 genomes]
rs9535149	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9535154	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535155	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535156	0.88[EUR][1000 genomes]
rs9535166	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535167	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9562870	0.83[EUR][1000 genomes]
rs9568150	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9568151	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9568154	0.86[ASN][1000 genomes]
rs9591235	0.81[EUR][1000 genomes]
rs9596064	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	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
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
3	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1052168	chr13:49691378-49743696	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49724200	Weak transcription	Esophagus	oesophagus
2	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
3	chr13:49689000-49711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:49693600-49711000	Weak transcription	Pancreas	Pancrea
5	chr13:49693600-49737200	Weak transcription	Spleen	Spleen
6	chr13:49699800-49714800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr13:49703000-49712200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:49704400-49720000	Strong transcription	Dnd41	blood
9	chr13:49705000-49709000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:49705000-49709600	Strong transcription	Primary B cells from cord blood	blood
11	chr13:49705000-49720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:49705200-49709000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:49705200-49709000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:49705200-49709400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:49705200-49711000	Strong transcription	Placenta	Placenta
16	chr13:49705200-49711800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:49705200-49712000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr13:49705200-49712200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr13:49705200-49712800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:49705200-49713400	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr13:49705200-49714400	Strong transcription	NHDF-Ad	bronchial
22	chr13:49705200-49714600	Strong transcription	HSMM	muscle
23	chr13:49705200-49714800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:49705200-49715000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:49705200-49715000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr13:49705200-49715600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:49705200-49715600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr13:49705200-49716000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:49705200-49717000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:49705200-49717000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr13:49705200-49717200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr13:49705200-49718200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr13:49705200-49718200	Strong transcription	Fetal Thymus	thymus
34	chr13:49705200-49720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:49705200-49720600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:49705200-49720600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:49705200-49720600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:49705200-49721000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:49705200-49722400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:49705200-49723200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr13:49705400-49712400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:49705400-49714600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr13:49705400-49718000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr13:49705400-49726600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:49705600-49709200	Weak transcription	Fetal Intestine Small	intestine
46	chr13:49705600-49711000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:49705800-49710600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr13:49705800-49714800	Weak transcription	Aorta	Aorta
49	chr13:49705800-49737200	Weak transcription	Right Ventricle	heart
50	chr13:49706000-49711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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