Variant report

Variant	rs7171815
Chromosome Location	chr15:30116057-30116058
allele	A/G
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	CHD1	chr15:30111618-30116068	IMR90	lung:	n/a	n/a
2	EP300	chr15:30115977-30116143	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30115117..30117286-chr15:30127029..30129725,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA8J-2	chr15:30114834-30116284	ENSG00000259523.1

Variant related genes	Relation type
TJP1	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10152681	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10775231	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11073205	0.89[EUR][1000 genomes]
rs12438925	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12440211	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12440708	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12441554	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1383315	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1480503	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1552077	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1585900	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1679647	0.83[ASN][1000 genomes]
rs1871678	0.80[ASN][1000 genomes]
rs2032	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2229518	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2337167	0.84[ASN][1000 genomes]
rs28675809	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2878893	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2878905	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073316	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4362339	0.80[ASN][1000 genomes]
rs4779670	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4780258	0.81[ASN][1000 genomes]
rs4780259	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4780260	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4780263	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6495890	0.86[EUR][1000 genomes]
rs6495914	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6495927	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495935	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495945	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7166786	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7168919	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7170406	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7175819	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7176476	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176594	0.89[ASN][1000 genomes]
rs7180387	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs767514	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs785445	1.00[ASN][1000 genomes]
rs8023974	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8027827	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
8	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1845759	chr15:30097078-30142373	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30115400-30116200	Enhancers	HUVEC	blood vessel
2	chr15:30115400-30116400	Weak transcription	Esophagus	oesophagus
3	chr15:30115400-30117200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:30115400-30119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:30115400-30121000	Weak transcription	Lung	lung
6	chr15:30115600-30116200	Enhancers	Right Ventricle	heart
7	chr15:30115600-30116200	Enhancers	NHEK	skin
8	chr15:30115600-30117400	Weak transcription	NH-A	brain
9	chr15:30115600-30118600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:30115600-30118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:30115600-30119000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:30115600-30119000	Weak transcription	Brain Angular Gyrus	brain
13	chr15:30115600-30119000	Weak transcription	Left Ventricle	heart
14	chr15:30115600-30119000	Weak transcription	Right Atrium	heart
15	chr15:30115600-30119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:30115600-30119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:30115600-30124400	Weak transcription	Spleen	Spleen
18	chr15:30115600-30127200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:30115600-30132800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:30115600-30136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:30115800-30117200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:30115800-30117200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:30115800-30117400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:30115800-30117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:30115800-30117400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:30115800-30117400	Weak transcription	Fetal Lung	lung
27	chr15:30115800-30117600	Weak transcription	Fetal Kidney	kidney
28	chr15:30115800-30117600	Weak transcription	HSMM	muscle
29	chr15:30115800-30118800	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:30115800-30119000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:30115800-30119200	Weak transcription	Brain Anterior Caudate	brain
32	chr15:30115800-30119200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:30115800-30119400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:30115800-30119600	Weak transcription	Adipose Nuclei	Adipose
35	chr15:30115800-30119800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:30116000-30117200	Weak transcription	Osteobl	bone
37	chr15:30116000-30117400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:30116000-30117400	Weak transcription	A549	lung
39	chr15:30116000-30117400	Weak transcription	NHDF-Ad	bronchial
40	chr15:30116000-30117400	Weak transcription	NHLF	lung
41	chr15:30116000-30118800	Weak transcription	Brain Substantia Nigra	brain
42	chr15:30116000-30118800	Weak transcription	Fetal Heart	heart
43	chr15:30116000-30118800	Weak transcription	Placenta	Placenta
44	chr15:30116000-30121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links