Variant report

Variant	rs4245350
Chromosome Location	chr13:49768976-49768977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12872974	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1359066	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1407827	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1407829	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1535922	0.96[EUR][1000 genomes]
rs1983805	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2021622	0.82[EUR][1000 genomes]
rs2075610	0.81[AMR][1000 genomes]
rs2146748	0.82[EUR][1000 genomes]
rs2147399	0.84[EUR][1000 genomes]
rs2181537	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2181538	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2181539	0.81[EUR][1000 genomes]
rs2224742	0.83[ASN][1000 genomes]
rs2897689	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34360275	0.84[EUR][1000 genomes]
rs35018425	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4142065	0.82[EUR][1000 genomes]
rs4530025	0.82[EUR][1000 genomes]
rs4942800	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6561493	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6561496	0.81[EUR][1000 genomes]
rs6561497	0.82[ASN][1000 genomes]
rs6561504	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67235936	0.95[EUR][1000 genomes]
rs7139746	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7139819	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs716722	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7317908	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7318871	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7333285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7338529	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7990573	0.82[EUR][1000 genomes]
rs7994845	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7996151	0.96[EUR][1000 genomes]
rs9526525	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9526526	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535140	0.81[EUR][1000 genomes]
rs9535141	0.82[EUR][1000 genomes]
rs9535147	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9535149	0.81[EUR][1000 genomes]
rs9535154	0.83[EUR][1000 genomes]
rs9535155	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535156	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535166	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535167	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9562870	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568150	0.81[EUR][1000 genomes]
rs9568151	0.81[EUR][1000 genomes]
rs9568154	0.83[ASN][1000 genomes]
rs9596064	0.82[EUR][1000 genomes]
rs972297	0.91[EUR][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	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	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
4	chr13:49738400-49785200	Strong transcription	Liver	Liver
5	chr13:49738600-49785000	Strong transcription	Dnd41	blood
6	chr13:49739000-49774200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:49740200-49786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:49740400-49784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr13:49740600-49769000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:49740600-49772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:49740600-49786600	Strong transcription	Placenta	Placenta
13	chr13:49741600-49783400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr13:49742600-49783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr13:49742800-49774400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:49745600-49783400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr13:49747400-49772000	Weak transcription	Esophagus	oesophagus
18	chr13:49747400-49772000	Weak transcription	Spleen	Spleen
19	chr13:49748800-49790600	Weak transcription	K562	blood
20	chr13:49749400-49774000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr13:49750200-49769000	Strong transcription	Fetal Muscle Leg	muscle
22	chr13:49753200-49787600	Weak transcription	Psoas Muscle	Psoas
23	chr13:49753400-49772000	Weak transcription	Colonic Mucosa	Colon
24	chr13:49754800-49769400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:49756600-49785400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:49756600-49786400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:49756800-49782800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr13:49757000-49769600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:49757200-49774400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr13:49757600-49771800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:49757800-49774600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:49759000-49776200	Weak transcription	Fetal Heart	heart
33	chr13:49759400-49769800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:49759400-49785000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr13:49759600-49769200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr13:49759600-49774600	Strong transcription	Adipose Nuclei	Adipose
37	chr13:49759600-49783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr13:49759800-49769200	Strong transcription	HUVEC	blood vessel
39	chr13:49759800-49783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:49759800-49783200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr13:49760000-49772000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:49760000-49783400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr13:49760000-49785000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:49760800-49769400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:49761200-49769000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:49762800-49789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:49763000-49771800	Weak transcription	Right Ventricle	heart
48	chr13:49763000-49771800	Weak transcription	NHLF	lung
49	chr13:49763000-49772000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr13:49763000-49788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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