Variant report

Variant	rs12591875
Chromosome Location	chr15:49628244-49628245
allele	A/T
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	chr15:49623352-49629344	K562	blood:	n/a	n/a

Variant related genes	Relation type
FAM227B	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12591134	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12593119	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12594448	1.00[EUR][1000 genomes]
rs1961692	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2244224	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2439132	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2457227	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2663091	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28871982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899428	1.00[EUR][1000 genomes]
rs4775801	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs478500	0.81[AFR][1000 genomes]
rs56107345	0.92[ASN][1000 genomes]
rs56875838	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7176697	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7177959	0.88[AFR][1000 genomes]
rs73392212	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73406202	1.00[EUR][1000 genomes]
rs8026364	0.86[AFR][1000 genomes]
rs8030581	1.00[EUR][1000 genomes]
rs8034734	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8040116	0.88[AFR][1000 genomes]
rs9806362	0.92[AFR][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	nsv1039220	chr15:49492509-49644261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49599200-49636800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:49608000-49631800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:49608600-49631800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:49612200-49631600	Weak transcription	Fetal Intestine Small	intestine
5	chr15:49612200-49639000	Weak transcription	NHEK	skin
6	chr15:49612600-49639400	Weak transcription	Right Ventricle	heart
7	chr15:49612800-49638000	Weak transcription	Brain Angular Gyrus	brain
8	chr15:49613000-49633200	Weak transcription	Gastric	stomach
9	chr15:49613200-49633200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:49613600-49633800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:49613600-49637200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:49613600-49643000	Weak transcription	Pancreas	Pancrea
13	chr15:49613800-49632600	Weak transcription	Fetal Thymus	thymus
14	chr15:49613800-49639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:49614200-49631600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:49614200-49631600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:49614200-49631800	Weak transcription	Aorta	Aorta
18	chr15:49614200-49632000	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:49614200-49637200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr15:49614200-49640200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:49614200-49640200	Weak transcription	Small Intestine	intestine
22	chr15:49614400-49633400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr15:49614400-49634000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:49614800-49628800	Weak transcription	Osteobl	bone
25	chr15:49614800-49631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:49614800-49639000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:49615600-49628400	Weak transcription	Adipose Nuclei	Adipose
28	chr15:49615800-49633600	Weak transcription	Placenta	Placenta
29	chr15:49615800-49636600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:49616000-49641400	Weak transcription	Fetal Lung	lung
31	chr15:49616600-49632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:49617800-49633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:49622400-49631600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:49622600-49631600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:49622600-49631600	Weak transcription	Fetal Intestine Large	intestine
36	chr15:49622600-49631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:49622600-49632200	Weak transcription	Thymus	Thymus
38	chr15:49622600-49642600	Weak transcription	HSMM	muscle
39	chr15:49622800-49631800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:49623000-49628600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:49623000-49631800	Weak transcription	Primary B cells from cord blood	blood
42	chr15:49623000-49633800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr15:49623000-49640200	Weak transcription	Primary T cells from cord blood	blood
44	chr15:49623200-49628400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:49623200-49630400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:49623200-49631600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:49623200-49646000	Weak transcription	Left Ventricle	heart
48	chr15:49623400-49628800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:49623400-49632600	Weak transcription	Dnd41	blood
50	chr15:49623400-49635800	Weak transcription	Monocytes-CD14+_RO01746	blood

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