Variant report

Variant	rs555252
Chromosome Location	chr15:43784000-43784001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43783239..43787260-chr15:43801022..43804758,8	K562	blood:
2	chr15:43776347..43778710-chr15:43783063..43784635,2	K562	blood:
3	15:43782117-43785993..15:44001645-44015047	GM12878	blood:

Variant related genes	Relation type
ENSG00000166963	Chromatin interaction
ENSG00000242866	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000238494	Chromatin interaction
ENSG00000166763	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1814540	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245161	1.00[GIH][hapmap];0.93[LWK][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2247734	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2249948	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264051	1.00[EUR][1000 genomes]
rs2444031	1.00[EUR][1000 genomes]
rs2444248	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2601019	0.89[AFR][1000 genomes]
rs28370962	1.00[EUR][1000 genomes]
rs2930527	1.00[EUR][1000 genomes]
rs2930532	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs492046	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs4924721	1.00[EUR][1000 genomes]
rs509037	1.00[EUR][1000 genomes]
rs509197	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545430	1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs559805	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs573201	1.00[EUR][1000 genomes]
rs575304	1.00[EUR][1000 genomes]
rs59083674	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs656473	1.00[EUR][1000 genomes]
rs689735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs690262	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7173990	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74009133	1.00[EUR][1000 genomes]
rs933942	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr15:43749200-43784600	Weak transcription	Stomach Mucosa	stomach
3	chr15:43749400-43784400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:43760400-43784600	Weak transcription	Psoas Muscle	Psoas
5	chr15:43764200-43784400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:43766400-43784000	Weak transcription	Spleen	Spleen
7	chr15:43767000-43784400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:43767800-43784400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:43767800-43784400	Weak transcription	Colonic Mucosa	Colon
10	chr15:43767800-43784400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:43769000-43784400	Weak transcription	Small Intestine	intestine
12	chr15:43772000-43784400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:43772000-43784400	Weak transcription	NHEK	skin
14	chr15:43772400-43784000	Weak transcription	Gastric	stomach
15	chr15:43772400-43784000	Weak transcription	GM12878-XiMat	blood
16	chr15:43772400-43784400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:43772400-43784600	Weak transcription	Pancreas	Pancrea
18	chr15:43772600-43784000	Weak transcription	HepG2	liver
19	chr15:43772600-43784600	Weak transcription	Esophagus	oesophagus
20	chr15:43773200-43784400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:43773400-43784200	Weak transcription	HMEC	breast
22	chr15:43773600-43784000	Weak transcription	Hela-S3	cervix
23	chr15:43776600-43784000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:43777400-43784400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:43777600-43784000	Weak transcription	K562	blood
26	chr15:43777800-43784200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr15:43778000-43784600	Strong transcription	Placenta	Placenta
28	chr15:43778200-43784000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:43779400-43784000	Strong transcription	Fetal Lung	lung
30	chr15:43780000-43784200	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr15:43780400-43784400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:43780400-43784600	Weak transcription	Lung	lung
33	chr15:43780600-43784400	Weak transcription	Liver	Liver
34	chr15:43780600-43784600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:43780600-43784600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:43780600-43784600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:43780600-43784800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:43780800-43784000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr15:43780800-43784400	Weak transcription	Aorta	Aorta
40	chr15:43781000-43784000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:43781000-43784400	Weak transcription	Ovary	ovary
42	chr15:43781000-43784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:43781000-43784600	Weak transcription	Right Ventricle	heart
44	chr15:43781800-43784000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:43781800-43784000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:43781800-43784000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr15:43781800-43784000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:43781800-43784000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:43781800-43784000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:43781800-43784000	Weak transcription	Thymus	Thymus

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