Variant report

Variant	rs9591142
Chromosome Location	chr13:48727819-48727820
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12100070	0.84[EUR][1000 genomes]
rs13378726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9595854	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9595857	0.94[AFR][1000 genomes];1.00[AMR][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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	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
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48717400-48733200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:48722400-48730600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr13:48722600-48730000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr13:48722800-48729800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:48723200-48730600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr13:48723800-48730400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr13:48724200-48738200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr13:48725400-48728200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:48726200-48729400	Weak transcription	Fetal Thymus	thymus
10	chr13:48726200-48729400	Weak transcription	Dnd41	blood
11	chr13:48726200-48730000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr13:48726200-48731600	Enhancers	Placenta	Placenta
13	chr13:48726400-48729800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr13:48726400-48729800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr13:48726400-48730000	Weak transcription	GM12878-XiMat	blood
16	chr13:48726400-48730200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr13:48726400-48730400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:48726400-48733600	Weak transcription	Esophagus	oesophagus
19	chr13:48726400-48735400	Weak transcription	Lung	lung
20	chr13:48726600-48728800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:48726600-48731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:48726600-48732000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr13:48726800-48728800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr13:48726800-48728800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:48726800-48728800	Weak transcription	Adipose Nuclei	Adipose
26	chr13:48726800-48728800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr13:48726800-48730000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:48726800-48730000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr13:48727000-48728400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:48727000-48728800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:48727200-48728800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:48727400-48728400	Weak transcription	Primary T cells from cord blood	blood
33	chr13:48727400-48728800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:48727400-48729000	Weak transcription	Primary B cells from cord blood	blood
35	chr13:48727400-48730400	Enhancers	NHEK	skin
36	chr13:48727600-48728000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:48727600-48728600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:48727600-48728800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr13:48727600-48729000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr13:48727600-48729000	Weak transcription	Small Intestine	intestine
41	chr13:48727600-48731200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:48727800-48728000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr13:48727800-48728000	Enhancers	Stomach Mucosa	stomach
44	chr13:48727800-48728000	Enhancers	HMEC	breast
45	chr13:48727800-48728200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr13:48727800-48728200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr13:48727800-48728400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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