Variant report

Variant	rs28370962
Chromosome Location	chr15:43633329-43633330
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43625690..43629602-chr15:43629922..43634519,5	K562	blood:
2	chr15:43631165..43633410-chr15:43636087..43639224,3	K562	blood:
3	chr15:43621044..43624825-chr15:43626235..43637209,16	K562	blood:
4	chr15:43632397..43634657-chr15:43658728..43661211,2	K562	blood:
5	chr15:43620805..43624764-chr15:43626235..43634573,14	K562	blood:
6	chr15:43620391..43624080-chr15:43631621..43634687,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168806	Chromatin interaction
ENSG00000168803	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1814540	1.00[EUR][1000 genomes]
rs2037393	1.00[EUR][1000 genomes]
rs2245161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247734	1.00[EUR][1000 genomes]
rs2249948	1.00[EUR][1000 genomes]
rs2264048	1.00[EUR][1000 genomes]
rs2264051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2444031	1.00[EUR][1000 genomes]
rs2444248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2601019	1.00[AMR][1000 genomes]
rs492046	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs509037	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs509197	1.00[EUR][1000 genomes]
rs545430	1.00[EUR][1000 genomes]
rs555252	1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs559805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56329224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs567249	1.00[AMR][1000 genomes]
rs573201	1.00[EUR][1000 genomes]
rs575304	1.00[EUR][1000 genomes]
rs59083674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs689735	1.00[EUR][1000 genomes]
rs690262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74009133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs933942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1512	chr15:43616834-43661646	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking 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 miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43623200-43633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:43623200-43651000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:43623200-43651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:43623200-43651600	Weak transcription	Pancreas	Pancrea
5	chr15:43623400-43639600	Weak transcription	Fetal Kidney	kidney
6	chr15:43623400-43641200	Weak transcription	Colonic Mucosa	Colon
7	chr15:43623400-43644000	Weak transcription	Fetal Thymus	thymus
8	chr15:43623400-43649200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:43623400-43650400	Weak transcription	Fetal Brain Male	brain
10	chr15:43623400-43651000	Weak transcription	Gastric	stomach
11	chr15:43623400-43651000	Weak transcription	Small Intestine	intestine
12	chr15:43623400-43653200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:43623600-43637800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:43623600-43638000	Weak transcription	Fetal Brain Female	brain
15	chr15:43623600-43642600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:43623600-43642600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:43623600-43643200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr15:43623600-43644000	Weak transcription	Brain Germinal Matrix	brain
19	chr15:43623600-43644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:43623600-43646000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:43623600-43646200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:43623600-43646600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr15:43623600-43646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:43623600-43650400	Weak transcription	NH-A	brain
25	chr15:43623600-43650800	Weak transcription	HMEC	breast
26	chr15:43623600-43650800	Weak transcription	NHLF	lung
27	chr15:43623600-43651000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:43623600-43651000	Weak transcription	A549	lung
29	chr15:43623600-43653000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr15:43623800-43633800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:43623800-43638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr15:43623800-43638200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr15:43623800-43641800	Weak transcription	Psoas Muscle	Psoas
34	chr15:43623800-43645800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:43623800-43646000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr15:43624000-43633400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:43624000-43641200	Weak transcription	NHEK	skin
38	chr15:43624000-43647000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:43624600-43644600	Weak transcription	Fetal Heart	heart
40	chr15:43625600-43647200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:43625800-43636400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:43626200-43633400	Strong transcription	Left Ventricle	heart
43	chr15:43627000-43633600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr15:43627200-43633600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:43627200-43633600	Strong transcription	Liver	Liver
46	chr15:43627200-43636400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:43627600-43635200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:43627800-43633800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:43628000-43633400	Strong transcription	Adipose Nuclei	Adipose
50	chr15:43628000-43634200	Strong transcription	Fetal Intestine Large	intestine

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