Variant report

Variant	rs9316391
Chromosome Location	chr13:49092114-49092115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49090774..49093179-chr13:49096004..49098974,2	K562	blood:
2	chr13:49090774..49093911-chr13:49094520..49097762,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10076	0.89[EUR][1000 genomes]
rs10467381	0.83[AMR][1000 genomes]
rs11840819	0.83[AMR][1000 genomes]
rs11842402	0.83[AMR][1000 genomes]
rs13378245	0.83[AMR][1000 genomes]
rs17071917	0.83[AMR][1000 genomes]
rs4151590	0.94[AMR][1000 genomes]
rs7322110	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7332631	1.00[AMR][1000 genomes]
rs7984270	0.83[AMR][1000 genomes]
rs7990103	0.94[AMR][1000 genomes]
rs9316390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316392	0.89[EUR][1000 genomes]
rs9316403	0.83[AMR][1000 genomes]
rs9316404	0.93[AMR][1000 genomes]
rs9332025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332036	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332053	0.83[AMR][1000 genomes]
rs9591163	0.82[AMR][1000 genomes]
rs9591167	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591170	0.83[AMR][1000 genomes]
rs9591174	0.83[AMR][1000 genomes]
rs9591175	0.83[AMR][1000 genomes]
rs9595894	0.87[AMR][1000 genomes]
rs9595909	0.94[AMR][1000 genomes]
rs9595910	0.94[AMR][1000 genomes]
rs9595913	0.89[EUR][1000 genomes]
rs9595917	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv983709	chr13:49086347-49097905	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:76 , 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	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
5	chr13:49068000-49105600	Weak transcription	Gastric	stomach
6	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
8	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:49075600-49093400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:49075600-49095200	Weak transcription	Fetal Intestine Large	intestine
12	chr13:49075800-49093200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:49076600-49097400	Weak transcription	Pancreas	Pancrea
14	chr13:49079600-49092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:49080600-49105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:49080800-49102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr13:49080800-49105400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr13:49081400-49105600	Weak transcription	Placenta	Placenta
19	chr13:49083400-49094400	Weak transcription	Fetal Intestine Small	intestine
20	chr13:49083400-49095800	Weak transcription	Spleen	Spleen
21	chr13:49083800-49105600	Weak transcription	Esophagus	oesophagus
22	chr13:49085000-49096000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr13:49085000-49096600	Weak transcription	Small Intestine	intestine
24	chr13:49085000-49104800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr13:49085000-49104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr13:49085200-49096000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr13:49085200-49100400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr13:49085200-49105600	Weak transcription	Fetal Thymus	thymus
29	chr13:49086200-49094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:49086200-49102200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:49086200-49102400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr13:49086200-49105600	Weak transcription	Lung	lung
33	chr13:49086200-49105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr13:49086200-49105600	Weak transcription	HSMMtube	muscle
35	chr13:49086400-49094400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:49086400-49094400	Weak transcription	NHEK	skin
37	chr13:49086400-49099200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr13:49086400-49101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr13:49086400-49101800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr13:49086400-49105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr13:49086400-49105600	Weak transcription	Brain Germinal Matrix	brain
42	chr13:49086400-49105600	Weak transcription	HUVEC	blood vessel
43	chr13:49086400-49106200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr13:49086600-49105600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:49087000-49095600	Weak transcription	Aorta	Aorta
46	chr13:49087000-49104600	Weak transcription	Dnd41	blood
47	chr13:49087200-49095600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:49087400-49105600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:49088400-49092600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:49089200-49093000	Weak transcription	GM12878-XiMat	blood

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