Variant report

Variant	rs2027444
Chromosome Location	chr13:95919634-95919635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2389226	0.89[EUR][1000 genomes]
rs2389227	1.00[EUR][1000 genomes]
rs2389228	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4773861	1.00[EUR][1000 genomes]
rs4773862	0.97[EUR][1000 genomes]
rs7320383	1.00[EUR][1000 genomes]
rs7322029	0.92[EUR][1000 genomes]
rs7329514	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7335275	1.00[EUR][1000 genomes]
rs7336202	1.00[EUR][1000 genomes]
rs7982955	1.00[EUR][1000 genomes]
rs8000333	1.00[EUR][1000 genomes]
rs9524866	0.94[EUR][1000 genomes]
rs9556467	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
2	chr13:95896200-95923400	Weak transcription	Ovary	ovary
3	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:95900000-95920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:95908000-95926600	Weak transcription	Gastric	stomach
6	chr13:95908800-95920000	Weak transcription	Pancreas	Pancrea
7	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:95913600-95920000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr13:95916400-95922000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:95917600-95919800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr13:95917600-95919800	Weak transcription	Fetal Kidney	kidney
14	chr13:95917800-95919800	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr13:95917800-95920400	ZNF genes & repeats	GM12878-XiMat	blood
16	chr13:95918200-95920200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:95918200-95920200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr13:95918400-95923400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:95918600-95920000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:95918600-95921000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:95918800-95919800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:95918800-95919800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:95918800-95922800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:95919000-95919800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr13:95919000-95919800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:95919000-95919800	Genic enhancers	A549	lung
27	chr13:95919000-95920000	Weak transcription	Fetal Intestine Large	intestine
28	chr13:95919000-95921200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:95919000-95922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr13:95919000-95922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr13:95919000-95923200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:95919000-95925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:95919000-95930000	Weak transcription	Esophagus	oesophagus
34	chr13:95919200-95922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:95919400-95919800	Enhancers	NHDF-Ad	bronchial
36	chr13:95919400-95920200	Enhancers	NH-A	brain
37	chr13:95919400-95921200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:95919400-95921200	Enhancers	NHLF	lung
39	chr13:95919400-95923200	Enhancers	HSMM	muscle
40	chr13:95919400-95923600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:95919400-95924200	Enhancers	Fetal Stomach	stomach
42	chr13:95919600-95919800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:95919600-95919800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:95919600-95919800	Enhancers	HSMMtube	muscle
45	chr13:95919600-95920000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:95919600-95920000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:95919600-95920000	Enhancers	Duodenum Mucosa	Duodenum
48	chr13:95919600-95920000	Enhancers	NHEK	skin
49	chr13:95919600-95920200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr13:95919600-95920400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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