Variant report

Variant	rs1520519
Chromosome Location	chr15:43445792-43445793
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	chr15:43444330..43446650-chr15:43448023..43450636,2	K562	blood:
2	chr15:43424472..43426236-chr15:43445586..43448040,2	K562	blood:

Variant related genes	Relation type
ENSG00000137842	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10152237	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[EUR][1000 genomes]
rs10438267	1.00[EUR][1000 genomes]
rs1078243	1.00[EUR][1000 genomes]
rs11504654	1.00[EUR][1000 genomes]
rs11504655	1.00[EUR][1000 genomes]
rs12324094	0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1474199	1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16957499	1.00[EUR][1000 genomes]
rs16957502	1.00[EUR][1000 genomes]
rs16957507	1.00[EUR][1000 genomes]
rs1863601	1.00[EUR][1000 genomes]
rs2004809	1.00[EUR][1000 genomes]
rs2271964	1.00[EUR][1000 genomes]
rs2271965	1.00[EUR][1000 genomes]
rs28444219	1.00[EUR][1000 genomes]
rs28539201	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3177296	1.00[EUR][1000 genomes]
rs34222269	1.00[EUR][1000 genomes]
rs4419035	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs58059509	1.00[EUR][1000 genomes]
rs59401274	1.00[EUR][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	1.00[EUR][1000 genomes]
rs60481556	1.00[EUR][1000 genomes]
rs61268760	1.00[EUR][1000 genomes]
rs61343376	1.00[EUR][1000 genomes]
rs61711558	1.00[EUR][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[EUR][1000 genomes]
rs7171797	1.00[EUR][1000 genomes]
rs7176183	1.00[EUR][1000 genomes]
rs7182685	1.00[EUR][1000 genomes]
rs7183024	1.00[EUR][1000 genomes]
rs8030850	1.00[EUR][1000 genomes]
rs8035881	1.00[EUR][1000 genomes]
rs8039342	1.00[EUR][1000 genomes]
rs8040769	1.00[EUR][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	1.00[EUR][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	1.00[EUR][1000 genomes]
rs9972367	1.00[EUR][1000 genomes]
rs999025	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	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
3	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	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
7	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43426800-43455800	Weak transcription	Fetal Lung	lung
2	chr15:43426800-43465400	Weak transcription	Psoas Muscle	Psoas
3	chr15:43427600-43475000	Weak transcription	Stomach Mucosa	stomach
4	chr15:43427800-43448400	Weak transcription	Fetal Kidney	kidney
5	chr15:43432200-43446400	Weak transcription	Small Intestine	intestine
6	chr15:43433200-43460600	Weak transcription	Right Ventricle	heart
7	chr15:43433400-43446000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:43433400-43446000	Weak transcription	Ovary	ovary
9	chr15:43433400-43451800	Weak transcription	Esophagus	oesophagus
10	chr15:43433400-43452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:43433400-43460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:43433400-43460400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:43433400-43460400	Weak transcription	Spleen	Spleen
14	chr15:43433400-43460600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:43433400-43460600	Weak transcription	Gastric	stomach
16	chr15:43433400-43467600	Weak transcription	HSMM	muscle
17	chr15:43433600-43447000	Weak transcription	Fetal Stomach	stomach
18	chr15:43433600-43447800	Weak transcription	Brain Substantia Nigra	brain
19	chr15:43433600-43460400	Weak transcription	Pancreas	Pancrea
20	chr15:43433600-43460400	Weak transcription	Thymus	Thymus
21	chr15:43433800-43451600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:43434000-43460400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:43435000-43452200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:43435400-43447000	Weak transcription	Fetal Intestine Small	intestine
25	chr15:43437000-43460400	Weak transcription	K562	blood
26	chr15:43437000-43467200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr15:43437200-43462000	Weak transcription	Dnd41	blood
28	chr15:43438000-43450000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr15:43438000-43457600	Strong transcription	Liver	Liver
30	chr15:43438000-43457800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr15:43438000-43458400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:43438000-43458400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr15:43438000-43458400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:43438000-43458400	Strong transcription	Adipose Nuclei	Adipose
35	chr15:43438000-43458600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr15:43438200-43447800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr15:43438200-43448600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr15:43438200-43448800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr15:43438400-43457600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:43438600-43449000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:43438600-43452200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:43440000-43449400	Strong transcription	Fetal Intestine Large	intestine
43	chr15:43440200-43453000	Weak transcription	Fetal Brain Female	brain
44	chr15:43440800-43476800	Weak transcription	Fetal Brain Male	brain
45	chr15:43441200-43448800	Strong transcription	Brain Angular Gyrus	brain
46	chr15:43441400-43446000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:43441600-43446600	Weak transcription	Fetal Heart	heart
48	chr15:43441800-43477200	Weak transcription	HSMMtube	muscle
49	chr15:43442000-43452400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:43442000-43461200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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