Variant report

Variant	rs4148509
Chromosome Location	chr13:95792410-95792411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10508023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148505	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4148512	0.94[AFR][1000 genomes]
rs4148515	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61965885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331317	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7332335	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv900925	chr13:95790353-95808003	Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr13:95750400-95812400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:95750400-95815400	Weak transcription	Fetal Intestine Large	intestine
4	chr13:95751000-95793400	Weak transcription	Fetal Kidney	kidney
5	chr13:95751600-95795600	Weak transcription	Small Intestine	intestine
6	chr13:95752200-95823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:95754000-95794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:95756400-95828200	Weak transcription	HSMM	muscle
10	chr13:95757600-95814400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr13:95762200-95817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:95762400-95811800	Weak transcription	K562	blood
13	chr13:95768200-95806600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:95768200-95819000	Weak transcription	Fetal Intestine Small	intestine
15	chr13:95774600-95815800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr13:95778800-95799200	Weak transcription	Colon Smooth Muscle	Colon
17	chr13:95778800-95833400	Weak transcription	Spleen	Spleen
18	chr13:95781000-95802400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:95782000-95828000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr13:95783400-95803800	Weak transcription	Fetal Lung	lung
21	chr13:95786800-95795400	Weak transcription	Left Ventricle	heart
22	chr13:95787800-95827200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr13:95789200-95812400	Weak transcription	Aorta	Aorta
24	chr13:95789200-95817600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:95789600-95795000	Weak transcription	NHEK	skin
26	chr13:95790000-95796200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:95790000-95798800	Weak transcription	HSMMtube	muscle
28	chr13:95790000-95806600	Weak transcription	NH-A	brain
29	chr13:95790200-95794400	Weak transcription	HUVEC	blood vessel
30	chr13:95790200-95812000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr13:95790400-95794000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:95791000-95821400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:95791200-95792600	Strong transcription	Primary T cells from cord blood	blood
34	chr13:95791200-95792600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr13:95791200-95792600	Strong transcription	Lung	lung
36	chr13:95791200-95792600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr13:95791200-95792800	Strong transcription	NHLF	lung
38	chr13:95791200-95796400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:95791400-95792600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:95791400-95792600	Strong transcription	A549	lung
41	chr13:95791600-95792600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:95791600-95793200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:95791800-95792800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr13:95791800-95794200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:95791800-95797600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:95791800-95802400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:95792200-95805800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:95792400-95793800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:95792400-95795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:95792400-95797400	Weak transcription	GM12878-XiMat	blood

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