Variant report

Variant	rs62483567
Chromosome Location	chr7:100286435-100286436
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100284828-100286626	K562	blood:	n/a	n/a
2	POLR2A	chr7:100286287-100286478	K562	blood:	n/a	n/a
3	POLR2A	chr7:100286409-100286481	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:100285889-100286535	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:100286348-100286510	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:100279071-100287739	K562	blood:	n/a	n/a
7	POLR2A	chr7:100286218-100287013	K562	blood:	n/a	n/a
8	POLR2A	chr7:100285875-100286698	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100286434-100286484	SAEC	small airway:	n/a
2	chr7:100286434-100286484	GM12892	blood:	n/a
3	chr7:100286434-100286484	HEEpiC	esophagus:	n/a
4	chr7:100286434-100286484	NT2-D1	testis:	n/a
5	chr7:100286434-100286484	NHBE	bronchial:	n/a
6	chr7:100286434-100286484	NB4	blood:	n/a
7	chr7:100286434-100286484	AG10803	skin:	n/a
8	chr7:100286434-100286484	AG09319	gingival:	n/a
9	chr7:100286434-100286484	AoSMC	blood vessel:	n/a
10	chr7:100286434-100286484	BJ	skin:	n/a
11	chr7:100286434-100286484	HCM	heart:	n/a
12	chr7:100286434-100286484	T-47D	breast:	n/a
13	chr7:100286434-100286484	CMK	blood:	n/a
14	chr7:100286434-100286484	NH-A	brain:	n/a
15	chr7:100286434-100286484	HMEC	breast:	n/a
16	chr7:100286434-100286484	HCF	heart:	n/a
17	chr7:100286434-100286484	ECC-1	luminal epithelium:	n/a
18	chr7:100286434-100286484	LNCaP	prostate:	n/a
19	chr7:100286434-100286484	Hela-S3	cervix:	n/a
20	chr7:100286434-100286484	IMR90	lung:	fetal
21	chr7:100286434-100286484	ProgFib	skin:	n/a
22	chr7:100286434-100286484	HCT-116	colon:	n/a
23	chr7:100286434-100286484	GM12878	blood:	n/a
24	chr7:100286434-100286484	MCF-7	breast:	n/a
25	chr7:100286434-100286484	HIPEpiC	eye:	n/a
26	chr7:100286434-100286484	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:100286434-100286484	GM19239	blood:	n/a
28	chr7:100286434-100286484	SK-N-SH_RA	brain:	n/a
29	chr7:100286434-100286484	HNPCEpiC	eye:	n/a
30	chr7:100286434-100286484	AG04449	skin:	fetal
31	chr7:100286434-100286484	HAEpiC	amniotic membrane:	n/a
32	chr7:100286434-100286484	SK-N-SH	brain:	n/a
33	chr7:100286434-100286484	Jurkat	blood:	n/a
34	chr7:100286434-100286484	SKMC	muscle:	n/a
35	chr7:100286434-100286484	HRPEpiC	eye:	n/a
36	chr7:100286434-100286484	HEK293	kidney:	embryo
37	chr7:100286434-100286484	K562	blood:	n/a
38	chr7:100286434-100286484	PFSK-1	brain:	n/a
39	chr7:100286434-100286484	HUVEC	blood vessel:	n/a
40	chr7:100286434-100286484	GM12891	blood:	n/a
41	chr7:100286434-100286484	ovcar-3	ovarian:	n/a
42	chr7:100286434-100286484	PrEC	prostate:	n/a
43	chr7:100286434-100286484	SK-N-MC	brain:	n/a
44	chr7:100286434-100286484	GM06990	blood:	n/a
45	chr7:100286434-100286484	Caco-2	colon:	n/a
46	chr7:100286434-100286484	HepG2	liver:	n/a
47	chr7:100286434-100286484	HCPEpiC	choroid plexus:	n/a
48	chr7:100286434-100286484	AG09309	skin:	n/a
49	chr7:100286434-100286484	AG04450	lung:	fetal
50	chr7:100286434-100286484	PANC-1	pancreas:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100025163..100029050-chr7:100284721..100290800,5	MCF-7	breast:
2	chr7:100229407..100233868-chr7:100285575..100288686,3	MCF-7	breast:
3	chr7:100181696..100183356-chr7:100285003..100287484,2	K562	blood:
4	chr7:100182617..100185782-chr7:100284570..100287283,3	MCF-7	breast:
5	chr7:100222759..100227059-chr7:100284156..100289115,6	K562	blood:
6	chr7:100228701..100230503-chr7:100285337..100287602,2	K562	blood:
7	chr7:100198433..100204411-chr7:100285757..100293733,14	K562	blood:
8	chr7:100284987..100287383-chr7:100301493..100305069,3	K562	blood:
9	chr7:100284400..100287604-chr7:100471903..100474319,4	MCF-7	breast:
10	chr7:100285374..100287070-chr7:100470986..100472980,2	K562	blood:

No data

Variant related genes	Relation type
GIGYF1	TF binding region
GIGYF1	CpG island
ENSG00000077454	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10953300	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10953301	0.94[ASN][1000 genomes]
rs11520986	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11760602	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11765509	0.93[EUR][1000 genomes]
rs11769012	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11772052	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11772705	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11772849	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11973874	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11974395	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11979818	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11980509	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11983334	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11984421	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12531792	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2272572	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4727459	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729602	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4729605	0.93[EUR][1000 genomes]
rs4729606	0.90[EUR][1000 genomes]
rs4729607	0.90[EUR][1000 genomes]
rs62482249	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62482250	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62482251	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62482252	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62483569	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62483570	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][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	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv888795	chr7:100266081-100298626	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62483567	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100274000-100287000	Strong transcription	Lung	lung
2	chr7:100274200-100287600	Strong transcription	Placenta Amnion	Placenta Amnion
3	chr7:100274200-100288800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:100274200-100289200	Weak transcription	Fetal Kidney	kidney
5	chr7:100274200-100290400	Weak transcription	HSMMtube	muscle
6	chr7:100274400-100287400	Strong transcription	Brain Cingulate Gyrus	brain
7	chr7:100274400-100287400	Strong transcription	Brain Substantia Nigra	brain
8	chr7:100274400-100287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:100274400-100287800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:100274400-100287800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:100274400-100287800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:100274400-100288000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:100274400-100288000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr7:100274400-100288600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:100274600-100286600	Strong transcription	Rectal Smooth Muscle	rectum
16	chr7:100274600-100287000	Strong transcription	Fetal Lung	lung
17	chr7:100274600-100287200	Strong transcription	Dnd41	blood
18	chr7:100274600-100287600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:100274600-100287800	Weak transcription	Fetal Brain Male	brain
20	chr7:100274600-100288200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:100274800-100286600	Strong transcription	Fetal Thymus	thymus
22	chr7:100274800-100288600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:100275000-100286800	Strong transcription	Brain Hippocampus Middle	brain
24	chr7:100275600-100287800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr7:100275800-100287000	Strong transcription	Liver	Liver
26	chr7:100276000-100287600	Strong transcription	Gastric	stomach
27	chr7:100276400-100288800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:100276400-100290000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:100277400-100287200	Strong transcription	Esophagus	oesophagus
30	chr7:100277400-100287600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:100277400-100288000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:100277600-100287200	Strong transcription	Placenta	Placenta
33	chr7:100277800-100287000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr7:100277800-100287200	Weak transcription	Primary B cells from cord blood	blood
35	chr7:100278400-100287000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:100278400-100287400	Strong transcription	Colonic Mucosa	Colon
37	chr7:100278400-100287800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:100278400-100287800	Strong transcription	Fetal Intestine Small	intestine
39	chr7:100278400-100288400	Strong transcription	Fetal Intestine Large	intestine
40	chr7:100278600-100286800	Strong transcription	Ovary	ovary
41	chr7:100278600-100288000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:100278800-100286800	Strong transcription	Adipose Nuclei	Adipose
43	chr7:100278800-100287600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:100278800-100288000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:100279200-100287000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr7:100279400-100286600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:100279400-100286800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr7:100279400-100288400	Strong transcription	Fetal Stomach	stomach
49	chr7:100279600-100286600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:100279600-100286600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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