Variant report

Variant	rs1408049
Chromosome Location	chr13:80113652-80113653
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79920013..79921997-chr13:80113156..80114886,2	K562	blood:
2	chr13:80104979..80107447-chr13:80112645..80114735,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1022891	0.81[MEX][hapmap]
rs1208049	0.91[ASN][1000 genomes]
rs1212082	0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12877507	0.82[JPT][hapmap]
rs1324868	0.82[JPT][hapmap];0.95[MEX][hapmap]
rs1335368	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1335370	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1410336	0.82[JPT][hapmap]
rs1414155	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1414156	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1475797	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1577416	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1577418	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748761	0.88[JPT][hapmap]
rs1853830	0.84[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs2025913	0.82[JPT][hapmap]
rs2057573	0.82[JPT][hapmap];0.95[MEX][hapmap]
rs2065743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181433	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2182009	0.82[JPT][hapmap]
rs2182010	0.82[JPT][hapmap]
rs2182873	0.82[JPT][hapmap]
rs2265377	0.93[JPT][hapmap]
rs2265378	0.88[JPT][hapmap]
rs2274555	0.82[JPT][hapmap]
rs2476172	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2476173	0.94[ASN][1000 genomes]
rs2484343	0.94[ASN][1000 genomes]
rs2484344	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2760101	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2760102	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2760103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2760105	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2760106	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2763809	0.88[JPT][hapmap]
rs2763810	0.84[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs2783119	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2783120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2783121	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2783122	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2783125	0.86[ASN][1000 genomes]
rs2783126	0.86[ASN][1000 genomes]
rs2783127	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2876740	0.84[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs314687	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs314689	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3742117	0.81[JPT][hapmap]
rs3742118	0.82[JPT][hapmap]
rs3742119	0.82[JPT][hapmap]
rs3742122	0.82[JPT][hapmap]
rs3752994	0.82[JPT][hapmap]
rs386603	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4145207	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4146473	0.82[JPT][hapmap];0.95[MEX][hapmap]
rs4476060	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4885633	0.83[ASN][1000 genomes]
rs4885634	0.81[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4885636	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs643778	0.88[JPT][hapmap]
rs6563100	0.82[JPT][hapmap];0.95[MEX][hapmap]
rs6563104	0.82[JPT][hapmap]
rs6563110	0.89[ASN][1000 genomes]
rs6563113	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6563115	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563116	0.92[ASN][1000 genomes]
rs700396	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7319252	0.82[JPT][hapmap]
rs7319320	0.82[JPT][hapmap]
rs7321953	0.94[ASN][1000 genomes]
rs7322673	0.82[JPT][hapmap]
rs73235963	0.94[ASN][1000 genomes]
rs7327386	0.82[JPT][hapmap]
rs7327603	0.82[JPT][hapmap]
rs7328494	0.93[JPT][hapmap]
rs7329331	0.84[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap]
rs7331872	0.82[JPT][hapmap]
rs7332367	0.82[JPT][hapmap];0.95[MEX][hapmap]
rs7332913	0.82[JPT][hapmap];0.95[MEX][hapmap]
rs7336581	0.83[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap]
rs7338530	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7339303	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7981067	0.82[JPT][hapmap];0.95[MEX][hapmap]
rs7982263	0.90[ASN][1000 genomes]
rs7987193	0.88[JPT][hapmap]
rs7987769	0.82[JPT][hapmap]
rs7988601	0.89[ASN][1000 genomes]
rs7990250	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs7990344	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7996493	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7996652	0.82[JPT][hapmap]
rs7998837	0.82[JPT][hapmap]
rs8001281	0.88[JPT][hapmap]
rs8002042	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs912639	0.84[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs9318623	0.81[JPT][hapmap]
rs9318625	0.82[JPT][hapmap]
rs9318626	0.82[JPT][hapmap]
rs9318627	0.82[JPT][hapmap]
rs9318634	0.81[JPT][hapmap]
rs9318640	0.87[JPT][hapmap]
rs9318641	0.87[JPT][hapmap]
rs9318644	0.94[ASN][1000 genomes]
rs9530901	0.82[JPT][hapmap];0.95[MEX][hapmap]
rs9530913	0.82[JPT][hapmap]
rs9530914	0.82[JPT][hapmap]
rs9530922	0.83[ASN][1000 genomes]
rs9530925	0.91[ASN][1000 genomes]
rs9545083	0.82[JPT][hapmap]
rs9545085	0.82[JPT][hapmap]
rs9545086	0.82[JPT][hapmap]
rs9545087	0.82[JPT][hapmap]
rs9545097	0.87[JPT][hapmap]
rs9545101	0.82[JPT][hapmap]
rs9545142	0.83[ASN][1000 genomes]
rs9565489	0.82[JPT][hapmap]
rs9565497	0.88[JPT][hapmap]
rs9565510	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9574409	0.82[JPT][hapmap]
rs9574416	0.82[JPT][hapmap]
rs9574422	0.88[JPT][hapmap]
rs9574429	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9574434	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9593396	0.82[JPT][hapmap]
rs9593399	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9601240	0.94[ASN][1000 genomes]
rs9601242	0.94[ASN][1000 genomes]
rs987284	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
4	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
5	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
6	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
7	chr13:80097200-80122800	Weak transcription	Fetal Lung	lung
8	chr13:80097400-80121800	Weak transcription	Lung	lung
9	chr13:80098400-80114200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr13:80098400-80123200	Weak transcription	Fetal Kidney	kidney
11	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
12	chr13:80099400-80115600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:80099400-80133200	Weak transcription	Psoas Muscle	Psoas
14	chr13:80100400-80121600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:80100600-80136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:80100800-80133200	Weak transcription	Hela-S3	cervix
17	chr13:80101000-80123400	Weak transcription	HMEC	breast
18	chr13:80101800-80133200	Weak transcription	Primary T cells from cord blood	blood
19	chr13:80102200-80133600	Weak transcription	Gastric	stomach
20	chr13:80102400-80114200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:80102400-80114400	Weak transcription	Right Ventricle	heart
22	chr13:80102400-80115400	Weak transcription	Fetal Muscle Leg	muscle
23	chr13:80104800-80133600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:80105800-80115800	Weak transcription	Brain Anterior Caudate	brain
25	chr13:80106600-80113800	Strong transcription	Dnd41	blood
26	chr13:80108400-80132200	Weak transcription	A549	lung
27	chr13:80109000-80121600	Weak transcription	HSMMtube	muscle
28	chr13:80109000-80123200	Weak transcription	NH-A	brain
29	chr13:80109000-80129400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:80109000-80133200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr13:80109000-80133200	Weak transcription	HSMM	muscle
32	chr13:80109200-80123000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:80109200-80123000	Weak transcription	Fetal Heart	heart
34	chr13:80109200-80133200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr13:80109400-80113800	Weak transcription	Brain Angular Gyrus	brain
36	chr13:80109600-80116400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:80109600-80123200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:80109600-80133200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:80109800-80128000	Weak transcription	NHDF-Ad	bronchial
40	chr13:80109800-80131600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr13:80110000-80122800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr13:80110600-80117600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr13:80110600-80118200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr13:80110600-80133200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr13:80111400-80115000	Strong transcription	Fetal Intestine Large	intestine
46	chr13:80111400-80116200	Weak transcription	Fetal Stomach	stomach
47	chr13:80112200-80113800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr13:80112400-80114400	Weak transcription	Liver	Liver
49	chr13:80112400-80117800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:80112600-80115200	Weak transcription	Adipose Nuclei	Adipose

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