Variant report

Variant	rs3752690
Chromosome Location	chr15:44813274-44813275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44812824..44815042-chr15:44827398..44829077,2	K562	blood:
2	chr15:44812885..44814662-chr15:44827033..44829093,2	K562	blood:

Variant related genes	Relation type
ENSG00000179523	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12591178	1.00[YRI][hapmap]
rs12592995	1.00[YRI][hapmap]
rs16964045	1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs2288340	0.88[JPT][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs2291647	0.88[JPT][hapmap]
rs2303576	0.82[AMR][1000 genomes]
rs2412884	1.00[EUR][1000 genomes]
rs2412908	0.82[AMR][1000 genomes]
rs2556561	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752691	1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784566	0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784567	0.85[YRI][hapmap]
rs3784568	0.88[JPT][hapmap]
rs3816928	0.85[YRI][hapmap]
rs3986143	0.85[YRI][hapmap]
rs4283209	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57451506	1.00[EUR][1000 genomes]
rs57618952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7163287	0.80[AMR][1000 genomes]
rs7170216	0.88[JPT][hapmap]
rs7173921	0.88[JPT][hapmap]
rs7175978	0.88[JPT][hapmap]
rs7176018	0.88[JPT][hapmap]
rs8023453	0.85[YRI][hapmap]
rs8041448	0.88[JPT][hapmap]

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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	135 gene(s)	inside rSNPs	diseases
7	nsv904180	chr15:44783700-44820054	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv569301	chr15:44797575-44814968	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44740600-44824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
4	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:44754600-44816200	Weak transcription	Brain Angular Gyrus	brain
6	chr15:44757000-44827400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:44775800-44820200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:44778000-44827800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:44778000-44827800	Weak transcription	Psoas Muscle	Psoas
10	chr15:44779800-44813600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:44779800-44824200	Weak transcription	Gastric	stomach
12	chr15:44779800-44827800	Weak transcription	Aorta	Aorta
13	chr15:44783200-44819400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:44783200-44827800	Weak transcription	NHLF	lung
15	chr15:44783600-44828000	Weak transcription	HSMMtube	muscle
16	chr15:44783800-44816400	Weak transcription	HMEC	breast
17	chr15:44790400-44827200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:44790800-44813600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:44790800-44827800	Weak transcription	Small Intestine	intestine
20	chr15:44791000-44818600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:44791800-44826800	Weak transcription	Brain Germinal Matrix	brain
22	chr15:44795000-44820400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr15:44795200-44820200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:44796200-44815200	Weak transcription	Right Ventricle	heart
25	chr15:44796200-44819000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:44796200-44827200	Weak transcription	K562	blood
27	chr15:44796200-44827800	Weak transcription	Brain Anterior Caudate	brain
28	chr15:44796200-44828000	Weak transcription	Brain Substantia Nigra	brain
29	chr15:44796400-44814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:44796400-44814200	Weak transcription	NHEK	skin
31	chr15:44796400-44827800	Weak transcription	Esophagus	oesophagus
32	chr15:44796400-44827800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:44796600-44813600	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:44797000-44815200	Weak transcription	Ovary	ovary
35	chr15:44797000-44828000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:44797600-44814400	Weak transcription	Left Ventricle	heart
37	chr15:44797600-44815000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr15:44797600-44815200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:44798000-44815200	Weak transcription	Lung	lung
40	chr15:44798800-44828000	Weak transcription	A549	lung
41	chr15:44799000-44813800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:44800800-44828000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:44803400-44815400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:44803600-44815200	Weak transcription	Brain Hippocampus Middle	brain
45	chr15:44803600-44817000	Weak transcription	Fetal Brain Male	brain
46	chr15:44803800-44814400	Weak transcription	Primary B cells from cord blood	blood
47	chr15:44804400-44813600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:44804600-44814200	Weak transcription	Fetal Kidney	kidney
49	chr15:44805000-44814000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:44805200-44814200	Weak transcription	Fetal Brain Female	brain

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