Variant report

Variant	rs12910927
Chromosome Location	chr15:59034615-59034616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59033413..59035094-chr15:59037580..59040574,2	MCF-7	breast:
2	chr15:59030650..59032606-chr15:59033863..59036396,2	K562	blood:
3	chr15:59033181..59035462-chr15:59039185..59042530,6	MCF-7	breast:
4	chr15:59033587..59035480-chr15:59035555..59037744,3	K562	blood:

Variant related genes	Relation type
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12437955	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12439231	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12440091	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12442956	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12592332	0.88[AMR][1000 genomes]
rs12900343	0.85[EUR][1000 genomes]
rs12905110	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12913383	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12917083	0.81[AMR][1000 genomes]
rs1820480	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2414608	0.85[EUR][1000 genomes]
rs28470809	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28536555	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28576281	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs28637832	0.84[AMR][1000 genomes]
rs28724298	0.88[AMR][1000 genomes]
rs544282	0.88[ASN][1000 genomes]
rs6494032	0.83[AMR][1000 genomes]
rs6494038	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8035960	0.84[AMR][1000 genomes]
rs8036448	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 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	chr15:59009800-59035400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:59022200-59040200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:59022600-59034800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:59022600-59038600	Weak transcription	Fetal Brain Female	brain
6	chr15:59023600-59040000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr15:59024000-59038200	Weak transcription	Fetal Stomach	stomach
8	chr15:59024400-59035200	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:59025600-59035200	Weak transcription	Psoas Muscle	Psoas
10	chr15:59025600-59038200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:59025600-59038200	Weak transcription	Gastric	stomach
12	chr15:59025600-59040000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:59025800-59034800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr15:59026800-59039600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:59027000-59035000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:59027000-59035200	Enhancers	Primary T cells from cord blood	blood
17	chr15:59027000-59039800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:59027200-59035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:59027400-59034800	Weak transcription	Right Atrium	heart
20	chr15:59027600-59037800	Weak transcription	Fetal Intestine Small	intestine
21	chr15:59027600-59038000	Weak transcription	Fetal Intestine Large	intestine
22	chr15:59027600-59040200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:59029600-59034800	Enhancers	HepG2	liver
24	chr15:59030600-59037800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:59030800-59037800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:59030800-59038200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:59030800-59038400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:59030800-59039400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr15:59031000-59035000	Weak transcription	Osteobl	bone
30	chr15:59031000-59039200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:59031200-59037800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:59031200-59037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:59031400-59035800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr15:59031400-59037800	Weak transcription	Hela-S3	cervix
35	chr15:59031400-59037800	Weak transcription	NHEK	skin
36	chr15:59032000-59036000	Weak transcription	Dnd41	blood
37	chr15:59032200-59034800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:59032200-59036800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:59032200-59038400	Weak transcription	Aorta	Aorta
40	chr15:59032400-59034800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:59032400-59036800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr15:59032600-59035000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:59032600-59037800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:59032600-59038000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr15:59032600-59038400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:59032800-59035000	Weak transcription	Left Ventricle	heart
47	chr15:59032800-59035400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:59033000-59034800	Weak transcription	Placenta	Placenta
49	chr15:59033000-59035000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:59033000-59035000	Weak transcription	Primary T cells fromperipheralblood	blood

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