Variant report

Variant	rs9331972
Chromosome Location	chr13:49094374-49094375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49092880..49094928-chr13:49105552..49108386,2	K562	blood:
2	chr13:49093025..49094796-chr13:49104131..49108138,4	MCF-7	breast:
3	chr13:49092461..49094974-chr13:49098743..49100899,2	K562	blood:

Variant related genes	Relation type
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10514849	0.81[AFR][1000 genomes]
rs6561455	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6561458	0.88[AFR][1000 genomes]
rs7330657	1.00[MEX][hapmap]
rs7334197	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.88[AFR][1000 genomes]
rs7334218	1.00[MEX][hapmap]
rs7337273	0.88[AFR][1000 genomes]
rs73486816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486831	0.88[AFR][1000 genomes]
rs73486843	0.85[AFR][1000 genomes]
rs7986425	0.88[AFR][1000 genomes]
rs7986868	0.88[AFR][1000 genomes]
rs7987757	0.83[AFR][1000 genomes]
rs7989249	0.88[AFR][1000 genomes]
rs7989406	0.88[AFR][1000 genomes]
rs9331951	1.00[MEX][hapmap]
rs9331969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331976	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331978	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331985	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331986	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331989	1.00[MEX][hapmap]
rs9331995	1.00[MEX][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9331972	RCBTB2	cis	lymphoblastoid	seeQTL
rs9331972	LPAR6	cis	lymphoblastoid	seeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
4	chr13:49068000-49105600	Weak transcription	Gastric	stomach
5	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
7	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:49075600-49095200	Weak transcription	Fetal Intestine Large	intestine
10	chr13:49076600-49097400	Weak transcription	Pancreas	Pancrea
11	chr13:49080600-49105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:49080800-49102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr13:49080800-49105400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr13:49081400-49105600	Weak transcription	Placenta	Placenta
15	chr13:49083400-49094400	Weak transcription	Fetal Intestine Small	intestine
16	chr13:49083400-49095800	Weak transcription	Spleen	Spleen
17	chr13:49083800-49105600	Weak transcription	Esophagus	oesophagus
18	chr13:49085000-49096000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr13:49085000-49096600	Weak transcription	Small Intestine	intestine
20	chr13:49085000-49104800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr13:49085000-49104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr13:49085200-49096000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr13:49085200-49100400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr13:49085200-49105600	Weak transcription	Fetal Thymus	thymus
25	chr13:49086200-49094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:49086200-49102200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr13:49086200-49102400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr13:49086200-49105600	Weak transcription	Lung	lung
29	chr13:49086200-49105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr13:49086200-49105600	Weak transcription	HSMMtube	muscle
31	chr13:49086400-49094400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:49086400-49094400	Weak transcription	NHEK	skin
33	chr13:49086400-49099200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr13:49086400-49101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr13:49086400-49101800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr13:49086400-49105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr13:49086400-49105600	Weak transcription	Brain Germinal Matrix	brain
38	chr13:49086400-49105600	Weak transcription	HUVEC	blood vessel
39	chr13:49086400-49106200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:49086600-49105600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:49087000-49095600	Weak transcription	Aorta	Aorta
42	chr13:49087000-49104600	Weak transcription	Dnd41	blood
43	chr13:49087200-49095600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:49087400-49105600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:49089200-49095200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:49089200-49101600	Weak transcription	Liver	Liver
47	chr13:49089200-49105800	Weak transcription	Ovary	ovary
48	chr13:49089400-49105600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr13:49089600-49094400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:49089600-49105600	Weak transcription	Fetal Muscle Trunk	muscle

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