Variant report

Variant	rs12101334
Chromosome Location	chr15:42221511-42221512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42219188..42222413-chr15:42224091..42227939,3	MCF-7	breast:
2	chr15:42215835..42217701-chr15:42219642..42223208,3	K562	blood:
3	chr15:42215883..42217701-chr15:42220776..42223208,2	K562	blood:
4	chr15:42217369..42219216-chr15:42220643..42223205,3	MCF-7	breast:
5	chr15:42208548..42210300-chr15:42220851..42222621,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11636923	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13329244	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28396848	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28478297	0.88[EUR][1000 genomes]
rs8039061	0.89[EUR][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
6	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
7	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12101334	SPTBN5	cis	Thyroid	GTEx
rs12101334	SPTBN5	cis	lung	GTEx
rs12101334	SPTBN5	cis	Artery Aorta	GTEx
rs12101334	SPTBN5	cis	Muscle Skeletal	GTEx
rs12101334	SPTBN5	cis	Adipose Subcutaneous	GTEx
rs12101334	SPTBN5	cis	Artery Tibial	GTEx
rs12101334	SPTBN5	cis	Esophagus Muscularis	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42201200-42225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:42202200-42225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:42210600-42225400	Weak transcription	K562	blood
4	chr15:42210800-42230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:42211600-42226200	Weak transcription	Thymus	Thymus
6	chr15:42212000-42224200	Weak transcription	Esophagus	oesophagus
7	chr15:42212000-42224400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:42212000-42225400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:42215000-42223800	Enhancers	Primary B cells from peripheral blood	blood
10	chr15:42215400-42221600	Enhancers	Primary B cells from cord blood	blood
11	chr15:42217400-42223200	Enhancers	Stomach Mucosa	stomach
12	chr15:42217400-42223800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:42217600-42224000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr15:42217800-42225400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:42217800-42225400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:42218200-42223600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr15:42218400-42221800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:42218400-42223000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:42218400-42223600	Enhancers	Liver	Liver
20	chr15:42218400-42223800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:42218400-42223800	Enhancers	Duodenum Mucosa	Duodenum
22	chr15:42218600-42223400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr15:42218800-42223200	Enhancers	Colonic Mucosa	Colon
24	chr15:42219000-42223200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:42219000-42225200	Weak transcription	Fetal Thymus	thymus
26	chr15:42219200-42221800	Enhancers	HepG2	liver
27	chr15:42219400-42223800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr15:42219400-42225600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:42219400-42226000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:42219400-42226600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:42219600-42221600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr15:42219600-42223600	Enhancers	Right Ventricle	heart
33	chr15:42219800-42221600	Weak transcription	Primary T cells from cord blood	blood
34	chr15:42219800-42223800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:42219800-42224200	Enhancers	NHLF	lung
36	chr15:42219800-42225200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:42219800-42225400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:42219800-42225600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr15:42220000-42222400	Strong transcription	NHEK	skin
40	chr15:42220000-42223000	Enhancers	Colon Smooth Muscle	Colon
41	chr15:42220000-42226600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:42220200-42221800	Enhancers	Fetal Intestine Large	intestine
43	chr15:42220200-42222400	Enhancers	Stomach Smooth Muscle	stomach
44	chr15:42220200-42222600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr15:42220200-42223200	Flanking Active TSS	Hela-S3	cervix
46	chr15:42220200-42223400	Enhancers	Rectal Smooth Muscle	rectum
47	chr15:42220200-42223600	Enhancers	Fetal Stomach	stomach
48	chr15:42220200-42224000	Enhancers	Osteobl	bone
49	chr15:42220400-42222000	Enhancers	Brain Anterior Caudate	brain
50	chr15:42220400-42222200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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