Variant report

Variant	rs8023706
Chromosome Location	chr15:59023947-59023948
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	chr15:59022433..59024447-chr15:59041685..59043916,2	K562	blood:
2	chr15:59023017..59026002-chr15:59026211..59028184,2	K562	blood:

Variant related genes	Relation type
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11071396	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11629654	0.81[EUR][1000 genomes]
rs11852241	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12437552	0.91[AMR][1000 genomes]
rs1427280	0.80[CHB][hapmap]
rs17236243	0.83[AMR][1000 genomes]
rs2054096	0.91[JPT][hapmap];0.93[YRI][hapmap]
rs2114573	0.80[CHB][hapmap]
rs2414606	0.84[CHB][hapmap];0.89[AMR][1000 genomes]
rs2414607	0.85[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28391588	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes]
rs28537903	0.81[EUR][1000 genomes]
rs28617688	0.82[EUR][1000 genomes]
rs3933541	0.89[AMR][1000 genomes]
rs4238331	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs4774309	0.80[CHB][hapmap]
rs4774311	0.92[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes]
rs655348	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs681711	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7163515	0.91[JPT][hapmap];0.90[YRI][hapmap]
rs7164053	0.86[EUR][1000 genomes]
rs7164844	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs7164954	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7168275	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7170538	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7171198	0.92[CHB][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7173286	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7178970	0.84[EUR][1000 genomes]
rs7179724	0.87[AMR][1000 genomes]
rs7183504	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8027998	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8033478	0.86[EUR][1000 genomes]
rs9646204	0.83[AMR][1000 genomes]
rs9744045	0.86[EUR][1000 genomes]
rs9788674	0.81[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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 target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:59005800-59025200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr15:59006200-59024000	Weak transcription	Pancreas	Pancrea
4	chr15:59007400-59026400	Weak transcription	Fetal Intestine Large	intestine
5	chr15:59008600-59028400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:59009600-59029600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr15:59009800-59035400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:59010200-59024000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:59010200-59024200	Weak transcription	HepG2	liver
10	chr15:59010800-59031200	Weak transcription	Dnd41	blood
11	chr15:59013200-59030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:59013400-59024000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:59013400-59029800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:59015000-59024200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:59016800-59025000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:59016800-59034200	Weak transcription	Brain Germinal Matrix	brain
17	chr15:59017000-59024000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:59017200-59027400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:59017200-59034400	Weak transcription	Fetal Kidney	kidney
20	chr15:59017400-59024000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:59017400-59024000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:59017400-59024000	Weak transcription	Small Intestine	intestine
23	chr15:59017400-59029000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:59019400-59024200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:59019800-59024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:59021000-59025600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr15:59021200-59024000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:59021600-59025600	Enhancers	Left Ventricle	heart
29	chr15:59021600-59025800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr15:59021800-59029000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:59021800-59029600	Weak transcription	Fetal Lung	lung
32	chr15:59022000-59025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:59022000-59029600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr15:59022200-59024400	Enhancers	Colon Smooth Muscle	Colon
35	chr15:59022200-59025800	Enhancers	Brain Cingulate Gyrus	brain
36	chr15:59022200-59025800	Enhancers	HSMMtube	muscle
37	chr15:59022200-59040200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:59022400-59024600	Enhancers	Brain Substantia Nigra	brain
39	chr15:59022400-59025600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr15:59022400-59025800	Enhancers	Brain Angular Gyrus	brain
41	chr15:59022400-59025800	Enhancers	Brain Hippocampus Middle	brain
42	chr15:59022400-59026800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr15:59022400-59029400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:59022600-59024600	Genic enhancers	Primary T cells from cord blood	blood
45	chr15:59022600-59025600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr15:59022600-59034800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr15:59022600-59038600	Weak transcription	Fetal Brain Female	brain
48	chr15:59022800-59024000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:59022800-59025200	Genic enhancers	Fetal Thymus	thymus
50	chr15:59022800-59025200	Enhancers	HMEC	breast

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