Variant report

Variant	rs12441018
Chromosome Location	chr15:42193571-42193572
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42193108-42193609	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:42193013-42193603	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42130119..42131750-chr15:42192349..42194959,2	K562	blood:
2	chr15:42190524..42192250-chr15:42192419..42194195,2	K562	blood:

Variant related genes	Relation type
ENSG00000272003	TF binding region
ENSG00000243708	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2412652	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4923919	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4924588	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	esv1827003	chr15:42087505-42199076	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	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
6	nsv904118	chr15:42103822-42207905	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv904124	chr15:42109975-42207905	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv9244	chr15:42110712-42208805	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv904125	chr15:42119900-42210393	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	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
11	nsv904127	chr15:42142912-42207905	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv904128	chr15:42147639-42207905	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
13	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
14	nsv904129	chr15:42162957-42207905	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12441018	SPTBN5	cis	Artery Tibial	GTEx
rs12441018	SPTBN5	cis	lung	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42183600-42195800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:42183600-42196000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:42183800-42195800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42186800-42198800	Weak transcription	Brain Substantia Nigra	brain
5	chr15:42187200-42211800	Weak transcription	Small Intestine	intestine
6	chr15:42187400-42196600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:42187600-42196400	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:42187600-42196600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:42187600-42196600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:42187600-42198800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:42187600-42200400	Weak transcription	Stomach Mucosa	stomach
12	chr15:42187600-42200600	Weak transcription	HepG2	liver
13	chr15:42187600-42209800	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:42187800-42196200	Weak transcription	Brain Angular Gyrus	brain
15	chr15:42187800-42196400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:42187800-42196600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:42187800-42198000	Strong transcription	Fetal Intestine Small	intestine
18	chr15:42187800-42206800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:42188000-42196000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:42188000-42197000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:42188000-42198600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:42188000-42198800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:42188400-42195800	Strong transcription	Fetal Muscle Leg	muscle
24	chr15:42188400-42197000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:42188400-42197000	Strong transcription	Lung	lung
26	chr15:42188600-42196600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:42188600-42209600	Strong transcription	NHEK	skin
28	chr15:42188800-42194600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:42188800-42194600	Strong transcription	HMEC	breast
30	chr15:42188800-42194800	Strong transcription	Adipose Nuclei	Adipose
31	chr15:42188800-42195800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:42189000-42195400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:42189000-42196400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:42189000-42198200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:42189200-42197400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr15:42189400-42194600	Strong transcription	NHLF	lung
37	chr15:42189400-42195600	Strong transcription	Liver	Liver
38	chr15:42189400-42198800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:42189600-42193600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:42189800-42194600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:42189800-42208400	Strong transcription	HUVEC	blood vessel
42	chr15:42190000-42193600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr15:42190000-42194400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr15:42190000-42196000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:42190000-42197000	Weak transcription	Fetal Thymus	thymus
46	chr15:42190200-42209800	Weak transcription	Hela-S3	cervix
47	chr15:42190400-42194400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:42190400-42194600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:42190400-42195400	Strong transcription	Placenta	Placenta
50	chr15:42190400-42218600	Weak transcription	Fetal Lung	lung

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