Variant report

Variant	rs9316385
Chromosome Location	chr13:49077741-49077742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1547660	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs171988	0.80[EUR][1000 genomes]
rs171990	0.80[EUR][1000 genomes]
rs174857	0.80[EUR][1000 genomes]
rs1926595	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1926596	0.90[ASN][1000 genomes]
rs1926597	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs198564	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs198568	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs198571	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs198574	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs198575	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs198576	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs198577	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs198606	0.80[EUR][1000 genomes]
rs198609	0.80[EUR][1000 genomes]
rs198610	0.80[EUR][1000 genomes]
rs2070752	0.80[EUR][1000 genomes]
rs2274400	0.90[ASN][1000 genomes]
rs2804094	0.84[EUR][1000 genomes]
rs2804095	0.80[EUR][1000 genomes]
rs28414460	0.90[ASN][1000 genomes]
rs2854342	0.84[EUR][1000 genomes]
rs2854348	0.84[EUR][1000 genomes]
rs2854353	0.80[EUR][1000 genomes]
rs2854357	0.80[EUR][1000 genomes]
rs2854362	0.80[EUR][1000 genomes]
rs28646083	0.90[ASN][1000 genomes]
rs28674973	0.83[ASN][1000 genomes]
rs2897587	0.81[AFR][1000 genomes]
rs3092898	0.87[ASN][1000 genomes]
rs3751380	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs398158	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs403390	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs406098	0.80[EUR][1000 genomes]
rs425834	0.80[EUR][1000 genomes]
rs427686	0.80[EUR][1000 genomes]
rs449268	0.83[AMR][1000 genomes]
rs61074776	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6561448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6561457	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6561461	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7325962	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7326934	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7329039	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7329865	0.83[ASN][1000 genomes]
rs73486867	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73495016	0.87[ASN][1000 genomes]
rs7985825	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7987935	0.90[ASN][1000 genomes]
rs7992129	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7995216	0.95[ASN][1000 genomes]
rs7996186	0.90[ASN][1000 genomes]
rs7996402	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7998781	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8001241	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8002565	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9316386	0.83[AMR][1000 genomes]
rs9316401	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9331959	0.90[ASN][1000 genomes]
rs9331965	0.86[ASN][1000 genomes]
rs9331973	0.90[ASN][1000 genomes]
rs9332054	0.81[ASN][1000 genomes]
rs9591172	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9591177	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9591178	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:49066800-49080200	Weak transcription	Colonic Mucosa	Colon
4	chr13:49067000-49080200	Weak transcription	Psoas Muscle	Psoas
5	chr13:49067000-49084200	Weak transcription	Ovary	ovary
6	chr13:49067200-49079200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr13:49067200-49079600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr13:49067200-49080200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:49067800-49078600	Weak transcription	Placenta	Placenta
12	chr13:49067800-49078600	Weak transcription	Right Atrium	heart
13	chr13:49067800-49078600	Weak transcription	Stomach Mucosa	stomach
14	chr13:49067800-49079400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
16	chr13:49068000-49078200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:49068000-49078400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr13:49068000-49105600	Weak transcription	Gastric	stomach
19	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr13:49068400-49081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr13:49070400-49078600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
23	chr13:49071600-49078000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr13:49071600-49078600	Weak transcription	Thymus	Thymus
25	chr13:49071600-49078800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:49071800-49079200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:49071800-49086200	Strong transcription	Fetal Stomach	stomach
28	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr13:49072000-49088400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr13:49072200-49078200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:49072200-49079400	Weak transcription	Brain Angular Gyrus	brain
32	chr13:49072200-49080200	Weak transcription	Spleen	Spleen
33	chr13:49072200-49085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:49072400-49078800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:49072400-49079800	Weak transcription	Brain Substantia Nigra	brain
37	chr13:49072400-49080200	Weak transcription	Aorta	Aorta
38	chr13:49072400-49080400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr13:49073000-49078800	Strong transcription	Fetal Muscle Leg	muscle
40	chr13:49073200-49085800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:49073400-49080200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:49073600-49087800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:49073800-49081200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr13:49074200-49078800	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:49074200-49079400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:49074200-49079600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:49074800-49083000	Weak transcription	Fetal Intestine Small	intestine
48	chr13:49075000-49078800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr13:49075200-49078600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr13:49075400-49080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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