Variant report

Variant	rs59083674
Chromosome Location	chr15:43780720-43780721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43780014..43781586-chr15:43785378..43787183,2	K562	blood:
2	15:43770785-43782117..15:43792489-43802874	Hela-S3	cervix:
3	15:43770785-43782117..15:44080886-44089111	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000140264	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000221792	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12438668	1.00[AMR][1000 genomes]
rs1814540	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2245161	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247734	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2249948	0.90[AFR][1000 genomes];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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2601019	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2930527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2930532	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs492046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924721	1.00[EUR][1000 genomes]
rs509037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs509197	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs545430	1.00[EUR][1000 genomes]
rs555252	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs559805	0.95[AFR][1000 genomes];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]
rs656473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs689735	1.00[EUR][1000 genomes]
rs690262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173990	0.84[AFR][1000 genomes];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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr15:43749200-43784600	Weak transcription	Stomach Mucosa	stomach
5	chr15:43749400-43783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:43749400-43784400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:43760400-43784600	Weak transcription	Psoas Muscle	Psoas
8	chr15:43763400-43783800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:43764200-43784400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr15:43766400-43784000	Weak transcription	Spleen	Spleen
11	chr15:43767000-43784400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:43767200-43783800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:43767800-43784400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:43767800-43784400	Weak transcription	Colonic Mucosa	Colon
15	chr15:43767800-43784400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:43769000-43784400	Weak transcription	Small Intestine	intestine
17	chr15:43771200-43783800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:43771800-43783200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:43772000-43781400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:43772000-43784400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr15:43772000-43784400	Weak transcription	NHEK	skin
22	chr15:43772200-43781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:43772200-43783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:43772400-43781400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:43772400-43784000	Weak transcription	Gastric	stomach
26	chr15:43772400-43784000	Weak transcription	GM12878-XiMat	blood
27	chr15:43772400-43784400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr15:43772400-43784600	Weak transcription	Pancreas	Pancrea
29	chr15:43772600-43781000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr15:43772600-43784000	Weak transcription	HepG2	liver
31	chr15:43772600-43784600	Weak transcription	Esophagus	oesophagus
32	chr15:43773200-43781400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:43773200-43784400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:43773400-43781200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:43773400-43781200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:43773400-43781400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:43773400-43781400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:43773400-43781400	Weak transcription	Brain Substantia Nigra	brain
39	chr15:43773400-43781400	Weak transcription	NHDF-Ad	bronchial
40	chr15:43773400-43784200	Weak transcription	HMEC	breast
41	chr15:43773600-43784000	Weak transcription	Hela-S3	cervix
42	chr15:43774400-43781600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:43774600-43783800	Strong transcription	Fetal Muscle Leg	muscle
44	chr15:43775000-43782800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:43775600-43783600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:43776200-43780800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:43776200-43781200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:43776200-43781400	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:43776400-43781400	Strong transcription	Fetal Brain Female	brain
50	chr15:43776600-43781200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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