Variant report

Variant	rs9595854
Chromosome Location	chr13:48730424-48730425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12100070	0.84[EUR][1000 genomes]
rs13378199	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs13378726	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4448832	0.92[EUR][1000 genomes]
rs9316366	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9591142	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9595857	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9595869	0.84[AFR][1000 genomes];0.92[EUR][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:65 , 50 per page) page: 1 2

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	chr13:48723200-48730600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr13:48724200-48738200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:48726200-48731600	Enhancers	Placenta	Placenta
6	chr13:48726400-48733600	Weak transcription	Esophagus	oesophagus
7	chr13:48726400-48735400	Weak transcription	Lung	lung
8	chr13:48726600-48731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:48726600-48732000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:48727600-48731200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:48728200-48731200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr13:48728400-48731200	Enhancers	HMEC	breast
13	chr13:48728400-48731600	Enhancers	Primary T cells from cord blood	blood
14	chr13:48728600-48731000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr13:48728600-48733600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:48728600-48735400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr13:48728800-48730800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:48728800-48730800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr13:48728800-48731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:48728800-48731000	Enhancers	Primary hematopoietic stem cells	blood
21	chr13:48728800-48731000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:48728800-48731000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:48728800-48731000	Enhancers	Adipose Nuclei	Adipose
24	chr13:48728800-48731200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:48728800-48731200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:48729000-48730800	Enhancers	Small Intestine	intestine
27	chr13:48729000-48731200	Enhancers	Hela-S3	cervix
28	chr13:48729200-48730600	Enhancers	HSMM	muscle
29	chr13:48729200-48730800	Enhancers	HepG2	liver
30	chr13:48729200-48733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:48729400-48730800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr13:48729400-48731000	Enhancers	Thymus	Thymus
33	chr13:48729400-48731000	Enhancers	HUVEC	blood vessel
34	chr13:48729400-48734000	Enhancers	Fetal Thymus	thymus
35	chr13:48729800-48730600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:48729800-48731000	Enhancers	NH-A	brain
37	chr13:48729800-48731200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr13:48730000-48730600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:48730000-48730800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr13:48730000-48730800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr13:48730000-48730800	Enhancers	Stomach Mucosa	stomach
42	chr13:48730000-48731000	Enhancers	Brain Anterior Caudate	brain
43	chr13:48730000-48731000	Enhancers	GM12878-XiMat	blood
44	chr13:48730000-48731200	Enhancers	Primary B cells from peripheral blood	blood
45	chr13:48730000-48731200	Flanking Active TSS	Dnd41	blood
46	chr13:48730200-48730600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr13:48730200-48730600	Active TSS	Primary T cells fromperipheralblood	blood
48	chr13:48730200-48730600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr13:48730200-48731000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr13:48730400-48730800	Enhancers	HUES6 Cell Line	embryonic stem cell

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