Variant report

Variant	rs2243575
Chromosome Location	chr15:57374138-57374139
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	chr15:57373645..57376211-chr15:57382766..57385379,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs2435894	1.00[AMR][1000 genomes]
rs2435899	1.00[AMR][1000 genomes]
rs2435900	0.82[AFR][1000 genomes]
rs2435901	0.87[AFR][1000 genomes]
rs2435904	0.87[AFR][1000 genomes]
rs2439923	0.87[AFR][1000 genomes]
rs2439924	1.00[AMR][1000 genomes]
rs2566841	0.82[AFR][1000 genomes]
rs2566847	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2566852	0.87[AFR][1000 genomes]
rs2585074	0.82[AFR][1000 genomes]
rs2585079	1.00[AMR][1000 genomes]
rs2585085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585092	0.87[AFR][1000 genomes]
rs2585095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585100	0.82[AFR][1000 genomes]
rs2585101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585111	0.87[AFR][1000 genomes]
rs2585113	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2593213	0.93[AFR][1000 genomes]
rs2593214	0.87[AFR][1000 genomes]
rs2593227	0.87[AFR][1000 genomes]
rs2593245	1.00[AMR][1000 genomes]
rs2593247	0.86[AFR][1000 genomes]
rs2593253	0.86[AFR][1000 genomes]
rs2615234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2615239	1.00[AMR][1000 genomes]
rs2615245	0.86[AFR][1000 genomes]
rs2615247	1.00[AMR][1000 genomes]
rs2703581	1.00[AMR][1000 genomes]
rs2703585	1.00[AMR][1000 genomes]
rs2703603	0.87[AFR][1000 genomes]
rs2703606	0.87[AFR][1000 genomes]
rs2703609	0.93[AFR][1000 genomes]
rs2703611	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703617	1.00[AMR][1000 genomes]
rs2703618	0.82[AFR][1000 genomes]
rs2703621	1.00[AMR][1000 genomes]
rs2703622	0.87[AFR][1000 genomes]
rs2703625	0.87[AFR][1000 genomes]
rs2733169	0.93[AFR][1000 genomes]
rs2733173	0.87[AFR][1000 genomes]
rs2733175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733184	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733186	0.87[AFR][1000 genomes]
rs2733190	0.87[AFR][1000 genomes]
rs2733308	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733338	1.00[AMR][1000 genomes]
rs2920271	0.87[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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:57346000-57374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:57353800-57406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:57354200-57384600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:57356000-57393400	Weak transcription	Thymus	Thymus
6	chr15:57362800-57384200	Weak transcription	HepG2	liver
7	chr15:57363800-57378200	Weak transcription	Gastric	stomach
8	chr15:57363800-57382000	Weak transcription	Right Atrium	heart
9	chr15:57365200-57374200	Weak transcription	Fetal Kidney	kidney
10	chr15:57365200-57384000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:57365600-57385200	Weak transcription	HSMM	muscle
12	chr15:57365800-57374200	Weak transcription	A549	lung
13	chr15:57365800-57384000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:57368000-57380400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:57371600-57375000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:57371600-57375200	Enhancers	HUVEC	blood vessel
17	chr15:57371800-57374800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr15:57371800-57375000	Enhancers	K562	blood
19	chr15:57371800-57382400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:57372000-57384000	Weak transcription	Dnd41	blood
21	chr15:57372400-57375200	Enhancers	Fetal Heart	heart
22	chr15:57372600-57374200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr15:57372600-57375000	Enhancers	Duodenum Mucosa	Duodenum
24	chr15:57372600-57375000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr15:57372600-57386000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:57372600-57404000	Weak transcription	HSMMtube	muscle
27	chr15:57372600-57404200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr15:57372800-57374200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:57372800-57374200	Weak transcription	Colon Smooth Muscle	Colon
30	chr15:57372800-57374200	Weak transcription	Stomach Mucosa	stomach
31	chr15:57372800-57374200	Weak transcription	NH-A	brain
32	chr15:57372800-57374400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:57372800-57374400	Genic enhancers	Fetal Thymus	thymus
34	chr15:57372800-57374800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:57372800-57375000	Enhancers	Primary hematopoietic stem cells	blood
36	chr15:57372800-57375000	Enhancers	Brain Cingulate Gyrus	brain
37	chr15:57372800-57375000	Enhancers	Fetal Lung	lung
38	chr15:57372800-57379000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:57372800-57380800	Weak transcription	Right Ventricle	heart
40	chr15:57372800-57384000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:57372800-57384000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr15:57372800-57384400	Weak transcription	Liver	Liver
43	chr15:57372800-57386000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:57372800-57410200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:57373000-57374200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:57373000-57374800	Weak transcription	Brain Germinal Matrix	brain
47	chr15:57373000-57376200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr15:57373000-57382000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:57373000-57384600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:57373000-57385400	Weak transcription	Primary B cells from cord blood	blood

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