Variant report

Variant	rs7532924
Chromosome Location	chr1:228393929-228393930
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:228390067-228395890	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:228393247-228394243	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr1:228393880-228394030	GM12865	blood:	n/a	n/a
4	POLR2A	chr1:228393802-228394353	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228392712..228394429-chr1:228455538..228457538,2	K562	blood:
2	chr1:228376793..228379462-chr1:228393288..228395336,2	K562	blood:
3	chr1:228392725..228394871-chr1:228701724..228704719,2	K562	blood:
4	chr1:228382588..228385276-chr1:228392275..228394385,3	MCF-7	breast:
5	chr1:228392443..228395548-chr1:228398360..228402800,4	MCF-7	breast:

No data

Variant related genes	Relation type
OBSCN	TF binding region
ENSG00000162913	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10158357	0.84[CEU][hapmap]
rs1059778	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10753445	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10799468	0.87[EUR][1000 genomes]
rs10799469	0.82[EUR][1000 genomes]
rs10799471	0.87[EUR][1000 genomes]
rs10916265	0.88[CEU][hapmap]
rs10916268	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs10916271	0.91[EUR][1000 genomes]
rs10916277	0.80[EUR][1000 genomes]
rs11584385	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11799681	0.88[EUR][1000 genomes]
rs11804508	0.89[EUR][1000 genomes]
rs12024649	0.90[EUR][1000 genomes]
rs12084338	0.84[CEU][hapmap]
rs12097591	0.80[EUR][1000 genomes]
rs12118872	0.87[CEU][hapmap]
rs12130630	0.81[CEU][hapmap]
rs12564763	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs12726781	0.89[EUR][1000 genomes]
rs12745416	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs1331303	0.86[EUR][1000 genomes]
rs1411910	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1557026	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1620111	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1629290	0.84[EUR][1000 genomes]
rs1629294	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs1757129	0.85[EUR][1000 genomes]
rs1757132	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1757133	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs1757138	0.86[EUR][1000 genomes]
rs1757139	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1757140	0.85[EUR][1000 genomes]
rs1757141	0.85[EUR][1000 genomes]
rs1757142	0.84[EUR][1000 genomes]
rs1757144	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1757145	0.86[EUR][1000 genomes]
rs1757147	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1757148	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1757149	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1757150	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1757151	0.86[EUR][1000 genomes]
rs1757152	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1757155	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1757156	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1757158	0.86[EUR][1000 genomes]
rs17623766	0.83[EUR][1000 genomes]
rs17640616	0.84[CEU][hapmap]
rs1771459	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1771460	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1771461	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1771462	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1771467	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1771468	0.85[EUR][1000 genomes]
rs1771469	0.87[EUR][1000 genomes]
rs1771470	0.86[EUR][1000 genomes]
rs1771471	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1771472	0.96[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1771474	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1771476	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1771477	0.87[EUR][1000 genomes]
rs1771478	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1771479	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1771482	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1771483	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1771484	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1771485	0.96[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1771487	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs2066237	1.00[CEU][hapmap]
rs2185544	0.91[EUR][1000 genomes]
rs2313600	0.83[EUR][1000 genomes]
rs2313601	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2313602	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2776845	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2776853	0.89[EUR][1000 genomes]
rs2776855	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2776856	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2792984	0.86[EUR][1000 genomes]
rs2872538	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3121190	0.82[EUR][1000 genomes]
rs3121191	0.86[EUR][1000 genomes]
rs3121192	0.88[EUR][1000 genomes]
rs3795777	0.86[EUR][1000 genomes]
rs3795782	0.92[CEU][hapmap]
rs4653536	0.89[EUR][1000 genomes]
rs4653543	0.84[EUR][1000 genomes]
rs4653545	0.81[EUR][1000 genomes]
rs4653915	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4653917	0.84[CEU][hapmap]
rs4653921	0.81[CEU][hapmap]
rs4653931	0.85[EUR][1000 genomes]
rs4653933	0.83[EUR][1000 genomes]
rs491293	0.80[EUR][1000 genomes]
rs493945	0.96[CEU][hapmap]
rs512406	0.81[EUR][1000 genomes]
rs545313	0.81[EUR][1000 genomes]
rs546967	0.81[EUR][1000 genomes]
rs55971985	0.89[EUR][1000 genomes]
rs56112646	0.87[EUR][1000 genomes]
rs566640	0.81[EUR][1000 genomes]
rs61827540	0.85[EUR][1000 genomes]
rs6426492	0.80[CEU][hapmap]
rs6657968	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6673893	0.81[CEU][hapmap]
rs6682260	0.84[CEU][hapmap]
rs72757824	0.81[EUR][1000 genomes]
rs72757827	0.82[EUR][1000 genomes]
rs7512209	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7525075	0.82[EUR][1000 genomes]
rs7537636	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7539762	0.84[CEU][hapmap]
rs947087	1.00[CEU][hapmap];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	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	esv1808523	chr1:228359177-228400358	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7532924	IBA57	cis	Whole Blood	GTEx
rs7532924	OBSCN	cis	Esophagus Mucosa	GTEx
rs7532924	OBSCN	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228373800-228394000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:228383200-228394600	Weak transcription	Fetal Brain Male	brain
3	chr1:228392200-228394400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:228392200-228395600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:228392600-228395000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:228392800-228394000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:228392800-228394400	Enhancers	Brain Anterior Caudate	brain
8	chr1:228392800-228395200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:228392800-228396200	Enhancers	Spleen	Spleen
10	chr1:228392800-228396400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:228392800-228396400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:228393000-228394600	Enhancers	Fetal Lung	lung
13	chr1:228393200-228394800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:228393200-228395200	Enhancers	Fetal Heart	heart
15	chr1:228393200-228395600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr1:228393400-228395600	Enhancers	Left Ventricle	heart
17	chr1:228393400-228395600	Enhancers	Psoas Muscle	Psoas
18	chr1:228393400-228395600	Enhancers	Right Ventricle	heart
19	chr1:228393400-228396000	Bivalent Enhancer	Fetal Stomach	stomach
20	chr1:228393400-228397000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:228393600-228394000	Enhancers	Brain Hippocampus Middle	brain
22	chr1:228393600-228394200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:228393600-228394200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:228393600-228394200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:228393600-228394200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:228393600-228394200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr1:228393600-228394200	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr1:228393600-228394400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:228393600-228394400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:228393600-228394400	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr1:228393600-228395600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:228393800-228394000	Enhancers	Liver	Liver
33	chr1:228393800-228394000	Enhancers	Stomach Smooth Muscle	stomach
34	chr1:228393800-228394200	Enhancers	Right Atrium	heart
35	chr1:228393800-228394400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:228393800-228394600	Weak transcription	Lung	lung
37	chr1:228393800-228394800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:228393800-228394800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:228393800-228394800	Weak transcription	HSMMtube	muscle
40	chr1:228393800-228395400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:228393800-228395600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr1:228393800-228395800	Weak transcription	Pancreas	Pancrea
43	chr1:228393800-228396000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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