Variant report

Variant	rs13318372
Chromosome Location	chr3:158544722-158544723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158527065..158529292-chr3:158543447..158545685,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13316352	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1381464	0.83[AFR][1000 genomes]
rs1870830	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28385458	0.94[EUR][1000 genomes]
rs28414018	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28588623	0.89[ASN][1000 genomes]
rs3816637	0.83[AFR][1000 genomes]
rs41272623	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4679839	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4680469	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6765511	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6769289	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs727569	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73158379	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73158380	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7613052	0.92[ASN][1000 genomes]
rs9866172	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9873741	0.92[ASN][1000 genomes]
rs9882471	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv877693	chr3:158470321-158583004	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1006146	chr3:158475824-158625778	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer 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
12	nsv592123	chr3:158477796-158625128	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1002514	chr3:158484027-158673414	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv536778	chr3:158484027-158673414	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv1014511	chr3:158516495-158715240	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158520400-158552400	Weak transcription	Stomach Mucosa	stomach
2	chr3:158520800-158545400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:158522400-158550000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:158527800-158554000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:158528000-158547000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:158528000-158549400	Weak transcription	Dnd41	blood
7	chr3:158528600-158549600	Weak transcription	Fetal Kidney	kidney
8	chr3:158528800-158547200	Weak transcription	Psoas Muscle	Psoas
9	chr3:158529400-158544800	Weak transcription	Hela-S3	cervix
10	chr3:158532200-158551800	Weak transcription	NHEK	skin
11	chr3:158532400-158557800	Weak transcription	Gastric	stomach
12	chr3:158533000-158548000	Weak transcription	Pancreas	Pancrea
13	chr3:158533000-158551000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:158533000-158556400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:158533000-158559600	Weak transcription	Right Ventricle	heart
16	chr3:158533200-158547600	Weak transcription	A549	lung
17	chr3:158534400-158550800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:158535400-158550600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:158535400-158551200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:158535400-158551200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:158535600-158545600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:158535600-158545600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:158535600-158545600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:158535600-158546200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:158535600-158546200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr3:158535600-158546400	Strong transcription	Osteobl	bone
27	chr3:158535600-158548200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:158535600-158548600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:158535600-158550200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:158535600-158550200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr3:158535600-158550600	Strong transcription	Liver	Liver
32	chr3:158535600-158550800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:158535800-158545800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:158535800-158548800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr3:158535800-158550800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr3:158536400-158545000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:158536400-158545200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:158536400-158545600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:158536400-158548600	Strong transcription	Placenta	Placenta
40	chr3:158537400-158548600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:158537800-158550800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr3:158537800-158551000	Strong transcription	Adipose Nuclei	Adipose
43	chr3:158537800-158551000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:158538600-158546400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:158539400-158545400	Strong transcription	HSMM	muscle
46	chr3:158540000-158550000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:158540600-158545000	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:158540800-158545600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:158541000-158548800	Strong transcription	Fetal Intestine Large	intestine
50	chr3:158541600-158552000	Weak transcription	Colonic Mucosa	Colon

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