Variant report

Variant	rs10953248
Chromosome Location	chr7:97869192-97869193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10953245	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953255	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1132971	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11760930	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11761158	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766808	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11772293	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12673586	0.80[EUR][1000 genomes]
rs12704977	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12704982	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12704983	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12728	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12873	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13232181	0.81[EUR][1000 genomes]
rs13237878	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13238610	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13246725	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13246942	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17436977	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2107716	0.80[EUR][1000 genomes]
rs2291747	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2394852	0.80[EUR][1000 genomes]
rs34129434	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34304553	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34534766	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34695842	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34776142	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34789614	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34817002	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34830366	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35216698	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35527492	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35941058	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35944487	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3816944	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4075057	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56229643	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62479822	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62479823	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62479853	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6465661	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6465662	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6465663	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6465664	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6465665	0.82[EUR][1000 genomes]
rs6465666	0.81[EUR][1000 genomes]
rs66548074	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6947208	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6947340	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6949718	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6950994	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6955259	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6967457	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968144	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6968193	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6969731	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6970801	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970990	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6975156	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73147342	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73151177	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs736753	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs736754	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs747633	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7781916	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7789440	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7790229	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7791321	0.80[EUR][1000 genomes]
rs7794187	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794612	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7796611	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7796762	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7802382	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7802560	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7802794	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
8	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv1800947	chr7:97857675-97889672	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10953248	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL
rs10953248	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97841200-97880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:97841400-97879400	Weak transcription	Fetal Brain Male	brain
3	chr7:97841400-97880200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:97845200-97877400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:97848000-97877600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:97848000-97880600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:97848600-97873200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:97850000-97871800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:97850000-97878000	Strong transcription	Fetal Stomach	stomach
10	chr7:97850200-97874400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:97850200-97875400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:97850400-97872800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr7:97850400-97878600	Weak transcription	GM12878-XiMat	blood
14	chr7:97850600-97872800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:97850600-97874400	Strong transcription	Adipose Nuclei	Adipose
16	chr7:97850600-97875600	Strong transcription	Fetal Brain Female	brain
17	chr7:97850800-97875400	Strong transcription	Thymus	Thymus
18	chr7:97850800-97877400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:97852000-97878000	Weak transcription	Small Intestine	intestine
20	chr7:97852600-97875600	Strong transcription	Primary T cells from cord blood	blood
21	chr7:97853200-97880000	Weak transcription	A549	lung
22	chr7:97853400-97880200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:97854000-97869800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr7:97854400-97870800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:97857000-97879000	Strong transcription	Brain Germinal Matrix	brain
26	chr7:97858200-97878200	Weak transcription	Stomach Mucosa	stomach
27	chr7:97858200-97879000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:97858800-97874600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:97859200-97880200	Weak transcription	Psoas Muscle	Psoas
30	chr7:97859800-97878200	Weak transcription	HepG2	liver
31	chr7:97860200-97871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:97860200-97871800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:97860200-97875600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr7:97860200-97878400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:97861200-97869200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr7:97861600-97870200	Weak transcription	Dnd41	blood
37	chr7:97861800-97875000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:97862000-97877800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:97862600-97871000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:97863000-97876800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:97864400-97870800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr7:97864600-97880200	Weak transcription	NHDF-Ad	bronchial
43	chr7:97864600-97880200	Weak transcription	NHEK	skin
44	chr7:97865000-97871400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:97865000-97874400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr7:97865000-97875400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:97865000-97875600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:97865000-97878600	Strong transcription	Fetal Intestine Small	intestine
49	chr7:97865200-97870200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:97865200-97870600	Strong transcription	Right Ventricle	heart

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