Variant report

Variant	rs9591153
Chromosome Location	chr13:48833968-48833969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11840676	0.82[AFR][1000 genomes];0.94[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	1.00[EUR][1000 genomes]
rs2265777	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406932	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515668	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	1.00[EUR][1000 genomes]
rs2804092	1.00[EUR][1000 genomes]
rs2854352	1.00[EUR][1000 genomes]
rs2854356	1.00[EUR][1000 genomes]
rs2854363	0.92[EUR][1000 genomes]
rs2854364	0.92[EUR][1000 genomes]
rs2854365	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	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7318012	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990103	0.92[EUR][1000 genomes]
rs8001351	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9285166	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316371	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332248	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562817	0.92[EUR][1000 genomes]
rs9591154	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591155	0.89[AFR][1000 genomes];1.00[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	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
4	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:48811600-48835600	Weak transcription	Fetal Brain Male	brain
6	chr13:48811600-48836800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:48825200-48834000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr13:48825200-48837000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr13:48825400-48836800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr13:48825400-48841200	Strong transcription	Fetal Thymus	thymus
11	chr13:48825400-48844400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr13:48825800-48837400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:48826200-48840000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:48826400-48841200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:48826600-48837000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:48826800-48837400	Weak transcription	Right Atrium	heart
17	chr13:48826800-48842000	Weak transcription	K562	blood
18	chr13:48827400-48836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:48827400-48836800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:48827400-48840200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr13:48827600-48834400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:48827600-48837000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:48827600-48838800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:48827600-48839000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr13:48827600-48839800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:48827600-48839800	Strong transcription	Dnd41	blood
27	chr13:48827600-48841000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:48827600-48843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:48827800-48835000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr13:48827800-48836600	Strong transcription	Primary B cells from cord blood	blood
31	chr13:48827800-48836600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr13:48827800-48837200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr13:48827800-48837600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:48827800-48838200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr13:48827800-48839800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:48827800-48839800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:48827800-48840800	Strong transcription	Placenta	Placenta
38	chr13:48827800-48843800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:48828000-48838000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:48828000-48838600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr13:48828000-48838800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr13:48828000-48840400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr13:48828200-48839000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:48828200-48840000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:48828400-48834000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr13:48828400-48838400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:48828600-48835000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr13:48828600-48840200	Strong transcription	Adipose Nuclei	Adipose
49	chr13:48828600-48845800	Weak transcription	Stomach Mucosa	stomach
50	chr13:48828800-48837400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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