Variant report

Variant	rs73479200
Chromosome Location	chr13:48650822-48650823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11148101	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11148102	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11148103	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11148104	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11148105	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11840013	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11841025	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11841089	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11841517	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11842654	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12427769	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12428098	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12428738	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12428782	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12428797	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12429895	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12429926	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12430608	0.83[ASN][1000 genomes]
rs12584124	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12584625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12584738	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12585232	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12585517	1.00[ASN][1000 genomes]
rs12585766	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1410116	0.98[ASN][1000 genomes]
rs2148247	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2296572	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35535367	0.83[ASN][1000 genomes]
rs3742108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3782979	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56670154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58080658	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59447207	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60828855	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61403342	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73477042	0.87[ASN][1000 genomes]
rs73479175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73479183	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73479186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73479195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73479199	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481207	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481212	1.00[ASN][1000 genomes]
rs73481217	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73481223	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481228	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481239	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481261	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73489207	0.83[ASN][1000 genomes]
rs73489232	0.83[ASN][1000 genomes]
rs73493331	0.83[ASN][1000 genomes]
rs73493345	0.83[ASN][1000 genomes]
rs7990408	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48623200-48652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:48636600-48651400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:48636600-48655400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:48638800-48651400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr13:48638800-48651600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:48640200-48661200	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr13:48640400-48655600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:48642600-48653800	Strong transcription	Brain Angular Gyrus	brain
9	chr13:48642800-48653800	Strong transcription	A549	lung
10	chr13:48644200-48657600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:48644200-48659800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr13:48645200-48657600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr13:48645200-48661000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr13:48645400-48654200	Strong transcription	Brain Hippocampus Middle	brain
15	chr13:48645400-48657600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:48645400-48657600	Strong transcription	NHLF	lung
17	chr13:48645600-48659800	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr13:48645600-48660400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr13:48645600-48660600	Strong transcription	Osteobl	bone
20	chr13:48645800-48660600	Strong transcription	HSMM	muscle
21	chr13:48645800-48661000	Strong transcription	HepG2	liver
22	chr13:48646000-48657400	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr13:48646000-48660000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:48646000-48660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:48646200-48653000	Strong transcription	Psoas Muscle	Psoas
26	chr13:48646200-48655400	Strong transcription	Fetal Brain Male	brain
27	chr13:48646200-48656200	Strong transcription	HUVEC	blood vessel
28	chr13:48646200-48658200	Strong transcription	NHDF-Ad	bronchial
29	chr13:48646200-48661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:48646400-48652400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr13:48646400-48660400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr13:48646600-48652400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr13:48646600-48657600	Strong transcription	Brain Substantia Nigra	brain
34	chr13:48646600-48658200	Strong transcription	Colon Smooth Muscle	Colon
35	chr13:48646600-48660400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:48646600-48660600	Strong transcription	Adipose Nuclei	Adipose
37	chr13:48646800-48652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:48646800-48652400	Weak transcription	Stomach Mucosa	stomach
39	chr13:48646800-48653000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr13:48646800-48655200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:48646800-48658000	Strong transcription	NH-A	brain
42	chr13:48646800-48660000	Strong transcription	Fetal Intestine Large	intestine
43	chr13:48646800-48660400	Strong transcription	Placenta	Placenta
44	chr13:48647000-48660600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:48647000-48660800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:48647000-48662400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr13:48647200-48652200	Weak transcription	Gastric	stomach
48	chr13:48647200-48654600	Strong transcription	Fetal Kidney	kidney
49	chr13:48647200-48655400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:48647200-48660000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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