Variant report

Variant	rs12539332
Chromosome Location	chr7:150740902-150740903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150740494-150740998	K562	blood:	n/a	n/a

Variant related genes	Relation type
ASIC3	TF binding region

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12537523	0.96[EUR][1000 genomes]
rs2116023	0.82[ASN][1000 genomes]
rs2303922	0.83[ASN][1000 genomes]
rs2303924	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303926	0.89[ASN][1000 genomes]
rs2373927	0.83[ASN][1000 genomes]
rs35900662	0.89[ASN][1000 genomes]
rs4148848	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61218626	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6944859	0.90[ASN][1000 genomes]
rs6944935	0.89[ASN][1000 genomes]
rs6947821	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv889475	chr7:150729212-150742700	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
13	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
14	esv1844711	chr7:150731698-150743820	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv609011	chr7:150731698-150743820	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
17	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
18	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
19	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
20	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
21	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
22	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150726400-150743600	Weak transcription	Fetal Kidney	kidney
2	chr7:150726400-150744200	Weak transcription	Right Atrium	heart
3	chr7:150726400-150745000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:150726600-150745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:150727000-150746400	Weak transcription	Fetal Brain Male	brain
6	chr7:150727800-150744400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:150728800-150742400	Strong transcription	Fetal Stomach	stomach
8	chr7:150729200-150744000	Strong transcription	Fetal Brain Female	brain
9	chr7:150730200-150744200	Strong transcription	Brain Germinal Matrix	brain
10	chr7:150732400-150745800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:150733800-150741400	Weak transcription	Primary B cells from cord blood	blood
12	chr7:150734000-150748000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:150734200-150741200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:150734400-150741000	Weak transcription	Aorta	Aorta
15	chr7:150734400-150745200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:150734600-150741400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:150734600-150745400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:150734600-150747400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:150734600-150747800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:150735400-150743600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:150736400-150743000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:150736400-150748000	Weak transcription	Psoas Muscle	Psoas
23	chr7:150736600-150744400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:150736600-150744800	Weak transcription	Small Intestine	intestine
25	chr7:150736800-150741200	Weak transcription	Fetal Thymus	thymus
26	chr7:150736800-150741600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:150736800-150742600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:150736800-150743800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr7:150736800-150745800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:150736800-150753800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:150737000-150741000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:150737000-150742400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:150737000-150743600	Strong transcription	Brain Hippocampus Middle	brain
34	chr7:150737000-150743800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:150737200-150743400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:150737200-150743600	Weak transcription	Osteobl	bone
37	chr7:150737200-150745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:150737200-150745200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:150737400-150741800	Weak transcription	HSMM	muscle
40	chr7:150737400-150743800	Weak transcription	Hela-S3	cervix
41	chr7:150737400-150744000	Weak transcription	HMEC	breast
42	chr7:150737600-150742400	Strong transcription	Placenta	Placenta
43	chr7:150737600-150743800	Weak transcription	A549	lung
44	chr7:150737600-150743800	Weak transcription	NH-A	brain
45	chr7:150737800-150742400	Weak transcription	HSMMtube	muscle
46	chr7:150737800-150743600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr7:150737800-150748200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:150738000-150741200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:150738000-150742000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr7:150738000-150743400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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