Variant report

Variant	rs9285166
Chromosome Location	chr13:48827810-48827811
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:48827666-48828333	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ITM2B	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11840676	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171989	0.92[EUR][1000 genomes]
rs185587	0.84[EUR][1000 genomes]
rs198559	0.92[EUR][1000 genomes]
rs198565	0.92[EUR][1000 genomes]
rs198566	0.92[EUR][1000 genomes]
rs198567	0.92[EUR][1000 genomes]
rs198572	0.92[EUR][1000 genomes]
rs198573	0.92[EUR][1000 genomes]
rs198583	0.92[EUR][1000 genomes]
rs198587	0.92[EUR][1000 genomes]
rs198600	0.92[EUR][1000 genomes]
rs198601	0.92[EUR][1000 genomes]
rs198613	0.92[EUR][1000 genomes]
rs198616	0.92[EUR][1000 genomes]
rs198617	0.92[EUR][1000 genomes]
rs198618	0.92[EUR][1000 genomes]
rs198628	0.92[EUR][1000 genomes]
rs198632	0.92[EUR][1000 genomes]
rs198636	0.92[EUR][1000 genomes]
rs2245534	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2265777	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406932	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515668	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804082	0.92[EUR][1000 genomes]
rs2804084	0.92[EUR][1000 genomes]
rs2804085	0.92[EUR][1000 genomes]
rs2804086	0.92[EUR][1000 genomes]
rs2804087	0.92[EUR][1000 genomes]
rs2804088	0.92[EUR][1000 genomes]
rs2804089	0.92[EUR][1000 genomes]
rs2804091	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804092	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854352	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854356	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854363	0.92[EUR][1000 genomes]
rs2854364	0.92[EUR][1000 genomes]
rs2854365	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2984828	0.92[EUR][1000 genomes]
rs3020646	0.92[EUR][1000 genomes]
rs411661	0.84[EUR][1000 genomes]
rs411862	0.92[EUR][1000 genomes]
rs4151590	0.84[EUR][1000 genomes]
rs416156	0.92[EUR][1000 genomes]
rs428431	0.92[EUR][1000 genomes]
rs4625624	1.00[EUR][1000 genomes]
rs547747	0.92[EUR][1000 genomes]
rs61507973	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7318012	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990103	0.92[EUR][1000 genomes]
rs8001351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316371	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332281	0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562817	0.92[EUR][1000 genomes]
rs9591153	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591154	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591155	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591163	0.92[EUR][1000 genomes]
rs9595872	0.83[EUR][1000 genomes]
rs9595894	0.92[EUR][1000 genomes]
rs9595909	0.92[EUR][1000 genomes]
rs9595910	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48808400-48829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:48808400-48829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:48809800-48829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:48810400-48830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
8	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:48811400-48828200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:48811600-48829000	Weak transcription	Colonic Mucosa	Colon
11	chr13:48811600-48829600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:48811600-48835600	Weak transcription	Fetal Brain Male	brain
13	chr13:48811600-48836800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr13:48811800-48828000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr13:48811800-48828200	Weak transcription	Aorta	Aorta
16	chr13:48812200-48828200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:48812400-48828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:48812400-48828200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:48813400-48829600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr13:48813600-48828200	Weak transcription	HSMM	muscle
21	chr13:48814000-48828200	Weak transcription	NHEK	skin
22	chr13:48814200-48828000	Weak transcription	Fetal Intestine Large	intestine
23	chr13:48814200-48828200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:48817400-48828000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr13:48818600-48828400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:48818600-48828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:48820600-48828000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:48822200-48828200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr13:48823000-48828200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr13:48823200-48832800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:48823400-48833200	Weak transcription	Small Intestine	intestine
32	chr13:48823600-48828000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:48824800-48828200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:48825200-48828400	Enhancers	Liver	Liver
35	chr13:48825200-48834000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr13:48825200-48837000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr13:48825400-48828000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr13:48825400-48836800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr13:48825400-48841200	Strong transcription	Fetal Thymus	thymus
40	chr13:48825400-48844400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr13:48825600-48828800	Weak transcription	Brain Angular Gyrus	brain
42	chr13:48825600-48829400	Weak transcription	Brain Germinal Matrix	brain
43	chr13:48825800-48829400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr13:48825800-48837400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr13:48826000-48828000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr13:48826000-48828000	Weak transcription	Stomach Mucosa	stomach
47	chr13:48826200-48828000	Weak transcription	Brain Anterior Caudate	brain
48	chr13:48826200-48828000	Weak transcription	Fetal Brain Female	brain
49	chr13:48826200-48828000	Enhancers	HepG2	liver
50	chr13:48826200-48840000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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