Variant report

Variant	rs12907548
Chromosome Location	chr15:59319191-59319192
allele	A/T
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:23)

rs_ID	r²[population]
rs10518995	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs11855536	0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs12050865	0.87[AFR][1000 genomes]
rs12438128	0.85[AFR][1000 genomes]
rs12899165	0.85[ASN][1000 genomes]
rs12915899	0.85[LWK][hapmap]
rs1374155	0.82[LWK][hapmap]
rs16940987	0.86[LWK][hapmap];0.82[YRI][hapmap]
rs16940998	0.88[LWK][hapmap]
rs17236383	0.97[LWK][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs1968606	0.83[AFR][1000 genomes]
rs1975534	0.85[AFR][1000 genomes]
rs2414618	0.88[AFR][1000 genomes]
rs34193148	0.85[ASN][1000 genomes]
rs35210199	0.88[AFR][1000 genomes]
rs35658945	0.88[AFR][1000 genomes]
rs4774320	0.83[CEU][hapmap]
rs61022867	0.81[AFR][1000 genomes]
rs71478699	0.83[ASN][1000 genomes]
rs8028752	0.88[LWK][hapmap]
rs8030246	0.85[LWK][hapmap]
rs8030323	0.83[AFR][1000 genomes]
rs8031390	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv510663	chr15:59310676-59370041	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
2	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:59281400-59323200	Weak transcription	Ovary	ovary
4	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
5	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
6	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:59282000-59323000	Weak transcription	Fetal Lung	lung
8	chr15:59282000-59323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:59282000-59323200	Weak transcription	Fetal Kidney	kidney
10	chr15:59282400-59323200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:59282400-59323400	Weak transcription	NHLF	lung
12	chr15:59283800-59329000	Weak transcription	Pancreas	Pancrea
13	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
15	chr15:59284600-59323000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:59284800-59323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:59285000-59323000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:59285000-59328000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:59285200-59323000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:59285200-59323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:59288400-59351200	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:59292200-59321600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr15:59295200-59349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:59295600-59323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:59295600-59335400	Weak transcription	Lung	lung
26	chr15:59295800-59323200	Weak transcription	Thymus	Thymus
27	chr15:59297800-59323200	Weak transcription	HepG2	liver
28	chr15:59297800-59323200	Weak transcription	NH-A	brain
29	chr15:59298400-59323000	Weak transcription	NHDF-Ad	bronchial
30	chr15:59298600-59323000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:59298600-59323000	Weak transcription	NHEK	skin
32	chr15:59298600-59323200	Weak transcription	Adipose Nuclei	Adipose
33	chr15:59298800-59323000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:59298800-59323200	Weak transcription	HMEC	breast
35	chr15:59300000-59323000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:59300000-59324600	Weak transcription	Right Ventricle	heart
37	chr15:59301200-59335400	Weak transcription	HUVEC	blood vessel
38	chr15:59302200-59321000	Weak transcription	Left Ventricle	heart
39	chr15:59303800-59323200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:59304200-59323000	Weak transcription	K562	blood
41	chr15:59304400-59323000	Weak transcription	Psoas Muscle	Psoas
42	chr15:59305400-59323000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr15:59305400-59354400	Weak transcription	Gastric	stomach
44	chr15:59305800-59321400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:59306000-59323000	Weak transcription	Hela-S3	cervix
46	chr15:59306000-59353400	Weak transcription	Fetal Heart	heart
47	chr15:59306200-59323000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:59306200-59323000	Weak transcription	Placenta	Placenta
49	chr15:59306600-59319200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr15:59306600-59323200	Weak transcription	HSMMtube	muscle

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