Variant report

Variant	rs690262
Chromosome Location	chr15:43704451-43704452
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	chr15:43660016..43662796-chr15:43702586..43705983,3	K562	blood:

Variant related genes	Relation type
ENSG00000140265	Chromatin interaction
ENSG00000137822	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12438668	1.00[AMR][1000 genomes]
rs1814540	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2245161	1.00[GIH][hapmap];0.93[LWK][hapmap];0.90[AFR][1000 genomes];1.00[AMR][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];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2249948	0.93[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	0.87[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs492046	0.94[YRI][hapmap];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	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs545430	0.86[ASW][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs555252	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]
rs558010	1.00[EUR][1000 genomes]
rs559805	0.92[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	0.86[ASW][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs575304	1.00[EUR][1000 genomes]
rs59083674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs689735	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];0.87[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:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43665000-43730000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43668000-43717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:43668200-43732800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:43675600-43744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:43682800-43720800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:43682800-43727800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:43683200-43709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:43683400-43732200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:43684800-43705000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:43684800-43709000	Strong transcription	Dnd41	blood
11	chr15:43685000-43709000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:43685000-43709000	Strong transcription	Left Ventricle	heart
13	chr15:43685000-43720400	Strong transcription	Fetal Brain Female	brain
14	chr15:43685400-43707800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:43685800-43710200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:43686000-43717200	Strong transcription	Primary B cells from cord blood	blood
17	chr15:43686000-43717200	Strong transcription	Fetal Lung	lung
18	chr15:43686000-43720600	Strong transcription	Brain Germinal Matrix	brain
19	chr15:43686000-43727000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:43686400-43709200	Strong transcription	Fetal Thymus	thymus
21	chr15:43686400-43710000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr15:43686400-43711200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr15:43686400-43715400	Strong transcription	Fetal Intestine Large	intestine
24	chr15:43686600-43705600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr15:43686600-43705600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr15:43686600-43708800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:43686600-43709200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr15:43686600-43715800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:43686600-43720400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:43686600-43720400	Strong transcription	Fetal Muscle Leg	muscle
31	chr15:43686600-43726000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr15:43686600-43733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:43686600-43733800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:43686800-43708800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:43686800-43709200	Strong transcription	NH-A	brain
36	chr15:43686800-43710000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr15:43686800-43710000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:43686800-43710000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr15:43686800-43710200	Strong transcription	Placenta	Placenta
40	chr15:43686800-43717800	Strong transcription	Primary T cells from cord blood	blood
41	chr15:43686800-43725400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:43686800-43725600	Strong transcription	Osteobl	bone
43	chr15:43686800-43733400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:43687000-43725400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:43687000-43732200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:43687200-43733400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:43687400-43709000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:43687600-43731600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:43689200-43737200	Weak transcription	Stomach Mucosa	stomach
50	chr15:43692800-43705400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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