Variant report

Variant	rs12101756
Chromosome Location	chr15:44053887-44053888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44053208..44055542-chr15:44063582..44065145,2	K562	blood:
2	chr15:44052819..44056366-chr15:44062691..44065082,4	K562	blood:
3	chr15:44038510..44041452-chr15:44052653..44054615,2	MCF-7	breast:
4	chr15:44052411..44054206-chr15:44056852..44059319,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205771	Chromatin interaction
ENSG00000167004	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10163054	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10438303	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11070407	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11070408	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11070410	0.96[ASN][1000 genomes]
rs11852840	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11856184	0.81[EUR][1000 genomes]
rs11857661	0.86[EUR][1000 genomes]
rs12437808	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12440573	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12441127	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12441861	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12441984	0.81[AMR][1000 genomes]
rs12442129	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12443102	0.84[EUR][1000 genomes]
rs12702	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13380397	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16950562	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16963953	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16965120	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2228368	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2277531	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2412810	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2447193	0.84[EUR][1000 genomes]
rs2447208	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2447211	0.84[EUR][1000 genomes]
rs2447212	0.84[EUR][1000 genomes]
rs2467402	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2467426	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2470121	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2788	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28377539	0.82[ASN][1000 genomes]
rs28433760	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28502289	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28504496	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28509275	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28542007	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28546844	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28578041	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28578398	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28583806	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28590651	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28595038	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28606452	0.84[EUR][1000 genomes]
rs28636829	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28674750	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28678901	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28684672	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28687459	0.81[AMR][1000 genomes]
rs28718261	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28781888	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28891769	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2915776	0.81[EUR][1000 genomes]
rs2915779	0.81[EUR][1000 genomes]
rs2920781	0.81[EUR][1000 genomes]
rs2927072	0.81[EUR][1000 genomes]
rs2927075	0.86[EUR][1000 genomes]
rs2955969	0.82[ASN][1000 genomes]
rs2957637	0.84[EUR][1000 genomes]
rs35457073	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3736180	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3742982	0.81[EUR][1000 genomes]
rs3759791	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3784275	0.82[EUR][1000 genomes]
rs3816792	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3825783	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4332723	0.87[ASN][1000 genomes]
rs4997480	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56008017	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs575082	0.84[ASN][1000 genomes]
rs57865312	0.84[EUR][1000 genomes]
rs60883262	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62018952	0.89[ASN][1000 genomes]
rs693919	0.84[ASN][1000 genomes]
rs694461	0.84[ASN][1000 genomes]
rs7167976	0.84[AFR][1000 genomes]
rs7168158	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7169382	0.84[ASN][1000 genomes]
rs7169988	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7170167	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7171750	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7174208	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7174732	0.84[ASN][1000 genomes]
rs7175032	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175129	0.87[ASN][1000 genomes]
rs7180818	0.94[ASN][1000 genomes]
rs72714307	0.96[AMR][1000 genomes]
rs8023696	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8029210	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8030169	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8033995	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8040839	0.81[ASN][1000 genomes]
rs8042868	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
10	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
11	esv33661	chr15:44016519-44064420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12101756	ADAL	cis	lung	GTEx
rs12101756	ADAL	cis	Nerve Tibial	GTEx
rs12101756	ADAL	cis	Stomach	GTEx
rs12101756	AC011330.5	cis	Esophagus Mucosa	GTEx
rs12101756	ADAL	cis	Esophagus Muscularis	GTEx
rs12101756	CATSPER2	cis	Esophagus Mucosa	GTEx
rs12101756	ADAL	cis	Thyroid	GTEx
rs12101756	ADAL	cis	Artery Tibial	GTEx
rs12101756	CKMT1A	cis	Esophagus Mucosa	GTEx
rs12101756	ELL3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44039600-44055400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44040200-44056000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:44040200-44062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:44040800-44055600	Weak transcription	Psoas Muscle	Psoas
5	chr15:44040800-44055800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:44041000-44068800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:44042000-44066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:44042000-44066800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:44042000-44067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:44042200-44055400	Weak transcription	Aorta	Aorta
11	chr15:44042200-44067000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:44042600-44066600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:44043000-44066800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:44043400-44055000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:44043400-44063200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr15:44043400-44066600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:44043400-44066600	Strong transcription	Fetal Thymus	thymus
18	chr15:44043400-44066800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:44043400-44066800	Strong transcription	Placenta	Placenta
20	chr15:44043400-44067000	Strong transcription	Osteobl	bone
21	chr15:44043400-44067200	Strong transcription	HSMM	muscle
22	chr15:44043600-44063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:44043600-44063800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr15:44043600-44066600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:44043600-44066800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr15:44043800-44066800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:44044000-44056800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:44044000-44063800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:44044000-44063800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr15:44044000-44066600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:44044000-44067000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:44044400-44054400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:44044400-44065600	Strong transcription	HUVEC	blood vessel
34	chr15:44044400-44066600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:44044400-44068200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:44044600-44065600	Strong transcription	Brain Anterior Caudate	brain
37	chr15:44044600-44066400	Strong transcription	Adipose Nuclei	Adipose
38	chr15:44044600-44067000	Strong transcription	Fetal Intestine Large	intestine
39	chr15:44044800-44055800	Strong transcription	HepG2	liver
40	chr15:44044800-44063800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr15:44044800-44065600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:44044800-44065600	Strong transcription	Dnd41	blood
43	chr15:44044800-44066600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:44045000-44054000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:44045000-44055200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:44045000-44057600	Strong transcription	Fetal Intestine Small	intestine
47	chr15:44045000-44065800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr15:44045000-44067000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr15:44045000-44067200	Strong transcription	Fetal Stomach	stomach
50	chr15:44045200-44066400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links