Variant report

Variant	rs3101572
Chromosome Location	chr13:96480994-96480995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1093275	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1707244	0.82[AFR][1000 genomes]
rs17885047	1.00[EUR][1000 genomes]
rs2389568	0.82[AFR][1000 genomes]
rs3125432	1.00[EUR][1000 genomes]
rs3125437	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs478025	1.00[EUR][1000 genomes]
rs509323	1.00[EUR][1000 genomes]
rs524961	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534493	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs548964	1.00[EUR][1000 genomes]
rs555120	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs559847	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs562356	1.00[EUR][1000 genomes]
rs574109	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs592640	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs687921	1.00[EUR][1000 genomes]
rs7982873	0.82[AFR][1000 genomes]
rs8000598	1.00[EUR][1000 genomes]
rs816137	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs816138	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs816141	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9525075	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9525076	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9584316	1.00[EUR][1000 genomes]
rs9584319	1.00[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	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3509289	chr13:96461000-96505090	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3509290	chr13:96461000-96505090	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96444400-96485600	Weak transcription	NHDF-Ad	bronchial
2	chr13:96445800-96490000	Weak transcription	HepG2	liver
3	chr13:96452000-96490600	Weak transcription	Fetal Kidney	kidney
4	chr13:96462600-96485600	Weak transcription	Hela-S3	cervix
5	chr13:96465600-96481200	Weak transcription	Psoas Muscle	Psoas
6	chr13:96466200-96481400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr13:96466400-96485400	Weak transcription	NHEK	skin
8	chr13:96466400-96486000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:96466600-96485800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:96466800-96485800	Weak transcription	Brain Anterior Caudate	brain
11	chr13:96467000-96485200	Weak transcription	HUVEC	blood vessel
12	chr13:96467400-96490800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:96468200-96489800	Weak transcription	GM12878-XiMat	blood
14	chr13:96468800-96486000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:96475400-96481200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr13:96475800-96485600	Weak transcription	HMEC	breast
17	chr13:96476000-96502600	Weak transcription	Fetal Heart	heart
18	chr13:96476400-96489800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:96477000-96481200	Weak transcription	Brain Substantia Nigra	brain
20	chr13:96477400-96486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr13:96478000-96485400	Weak transcription	A549	lung
22	chr13:96478000-96485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:96478000-96485600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:96478000-96486000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr13:96478000-96486000	Weak transcription	Adipose Nuclei	Adipose
26	chr13:96478000-96498200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:96478000-96502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:96478000-96502600	Weak transcription	Left Ventricle	heart
29	chr13:96478000-96568400	Weak transcription	Placenta	Placenta
30	chr13:96478200-96481200	Weak transcription	Brain Angular Gyrus	brain
31	chr13:96478200-96481800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:96478200-96481800	Weak transcription	Fetal Lung	lung
33	chr13:96478200-96482400	Weak transcription	Pancreas	Pancrea
34	chr13:96478200-96483000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr13:96478200-96485200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr13:96478200-96485400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:96478200-96485600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:96478200-96485600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr13:96478200-96485600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:96478200-96485600	Weak transcription	NHLF	lung
41	chr13:96478200-96485600	Weak transcription	Osteobl	bone
42	chr13:96478200-96485800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:96478200-96485800	Weak transcription	NH-A	brain
44	chr13:96478200-96486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr13:96478200-96486000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr13:96478200-96486000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:96478200-96486400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr13:96478200-96489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:96478200-96489800	Weak transcription	Fetal Intestine Large	intestine
50	chr13:96478200-96489800	Weak transcription	Fetal Muscle Leg	muscle

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