Variant report

Variant	rs9591293
Chromosome Location	chr13:50271566-50271567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50265747..50268429-chr13:50268822..50272035,3	K562	blood:
2	chr13:50265861..50268328-chr13:50270535..50273310,2	K562	blood:

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

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

rs_ID	r²[population]
rs1043729	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13313256	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17073322	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17073347	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17073356	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1819191	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885723	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1969739	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1998363	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2181184	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236326	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3736830	0.97[ASN][1000 genomes]
rs3742094	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3782929	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4941655	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4941656	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4942862	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942865	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56738401	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57118905	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57783887	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57794226	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58124341	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs60019803	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60106669	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60856213	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7321391	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7334018	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7335016	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7335310	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73483835	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73485710	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs765291	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs765292	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7984711	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7989633	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7990293	0.87[ASN][1000 genomes]
rs7993631	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7993860	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7994062	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535306	0.99[ASN][1000 genomes]
rs9591294	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9591296	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9596172	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596173	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596174	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596175	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596176	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596181	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9596188	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596189	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596194	0.82[AFR][1000 genomes];0.84[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	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr13:50266000-50273000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50266000-50278200	Weak transcription	Lung	lung
3	chr13:50266000-50284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:50266200-50271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:50266200-50271800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr13:50266200-50272000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:50266200-50272000	Weak transcription	Fetal Heart	heart
8	chr13:50266200-50272200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:50266200-50272200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr13:50266200-50272200	Weak transcription	Fetal Intestine Large	intestine
11	chr13:50266200-50272200	Weak transcription	Fetal Stomach	stomach
12	chr13:50266200-50272200	Weak transcription	Left Ventricle	heart
13	chr13:50266200-50272200	Weak transcription	NH-A	brain
14	chr13:50266200-50272600	Weak transcription	Fetal Intestine Small	intestine
15	chr13:50266200-50272800	Weak transcription	Aorta	Aorta
16	chr13:50266200-50272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr13:50266200-50273000	Weak transcription	Adipose Nuclei	Adipose
18	chr13:50266200-50273000	Weak transcription	Ovary	ovary
19	chr13:50266200-50274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr13:50266200-50274400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr13:50266200-50275000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:50266200-50275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:50266200-50275000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:50266200-50275000	Weak transcription	Fetal Brain Male	brain
25	chr13:50266200-50275000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:50266200-50275000	Weak transcription	Thymus	Thymus
27	chr13:50266200-50275000	Weak transcription	GM12878-XiMat	blood
28	chr13:50266200-50275000	Weak transcription	Hela-S3	cervix
29	chr13:50266200-50275000	Weak transcription	NHDF-Ad	bronchial
30	chr13:50266200-50275200	Weak transcription	Brain Hippocampus Middle	brain
31	chr13:50266200-50275200	Weak transcription	HSMMtube	muscle
32	chr13:50266200-50275400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr13:50266200-50275400	Weak transcription	Brain Substantia Nigra	brain
34	chr13:50266200-50275400	Weak transcription	Fetal Kidney	kidney
35	chr13:50266200-50275400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr13:50266200-50275400	Weak transcription	Right Ventricle	heart
37	chr13:50266200-50275400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr13:50266200-50275600	Weak transcription	Fetal Lung	lung
39	chr13:50266200-50279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:50266200-50279400	Weak transcription	Brain Angular Gyrus	brain
41	chr13:50266200-50279400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr13:50266200-50282200	Weak transcription	Brain Germinal Matrix	brain
43	chr13:50266200-50285600	Weak transcription	NHLF	lung
44	chr13:50266200-50286000	Weak transcription	Psoas Muscle	Psoas
45	chr13:50266200-50289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr13:50266200-50289600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
48	chr13:50266200-50296000	Weak transcription	K562	blood
49	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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