Variant report

Variant	rs12050820
Chromosome Location	chr15:75333008-75333009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75327252..75330394-chr15:75331870..75333632,3	K562	blood:
2	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
3	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:
4	chr15:75332035..75334503-chr15:75468873..75470789,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167173	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12593566	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12900654	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12909515	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs12912959	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17422130	0.83[AMR][1000 genomes]
rs1867151	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2083730	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3812944	0.83[AFR][1000 genomes]
rs4627301	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4886651	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4886652	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59307715	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6495139	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6495141	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6495143	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6495152	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75316600-75336800	Weak transcription	Fetal Brain Female	brain
2	chr15:75316800-75338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:75317200-75335000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:75318000-75341400	Weak transcription	Brain Germinal Matrix	brain
5	chr15:75322200-75333400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr15:75322200-75335400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:75322200-75335400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr15:75322200-75339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:75322400-75336800	Weak transcription	Primary T cells from cord blood	blood
10	chr15:75322400-75339200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:75322600-75338600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:75322800-75334200	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:75322800-75335200	Weak transcription	Brain Anterior Caudate	brain
14	chr15:75322800-75335600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:75323000-75334600	Weak transcription	Liver	Liver
16	chr15:75323000-75335000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:75323000-75335000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:75323000-75335000	Weak transcription	Gastric	stomach
19	chr15:75323000-75335000	Weak transcription	NHLF	lung
20	chr15:75323000-75335200	Weak transcription	Brain Angular Gyrus	brain
21	chr15:75323000-75335400	Weak transcription	Aorta	Aorta
22	chr15:75323000-75335800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:75323000-75336600	Weak transcription	Dnd41	blood
24	chr15:75323200-75334400	Weak transcription	NHDF-Ad	bronchial
25	chr15:75323400-75334200	Weak transcription	Left Ventricle	heart
26	chr15:75323400-75334600	Weak transcription	Right Atrium	heart
27	chr15:75323400-75334600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:75323400-75335000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr15:75323400-75335000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:75323400-75335600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr15:75323600-75334200	Weak transcription	Right Ventricle	heart
32	chr15:75323600-75335000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:75323600-75336000	Weak transcription	Thymus	Thymus
34	chr15:75324600-75334600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr15:75324600-75335000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:75324600-75339200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:75324800-75333400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:75324800-75334400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:75325800-75334400	Weak transcription	Fetal Heart	heart
40	chr15:75326600-75333800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:75326600-75334400	Weak transcription	Primary B cells from cord blood	blood
42	chr15:75327000-75334200	Weak transcription	Pancreas	Pancrea
43	chr15:75327800-75334200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:75328600-75336000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:75328600-75338800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:75328800-75350400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:75329000-75334600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:75329000-75335200	Weak transcription	Small Intestine	intestine
49	chr15:75329000-75335200	Weak transcription	HSMMtube	muscle
50	chr15:75329200-75334400	Weak transcription	Rectal Mucosa Donor 29	rectum

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