Variant report

Variant	esv1799111
Chromosome Location	chr7:79098487-79103631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:79101960-79102110	Caco-2	colon:	n/a	n/a
2	EP300	chr7:79100599-79100942	SK-N-SH_RA	brain:	n/a	n/a
3	FAM48A	chr7:79100371-79100571	GM12878	blood:	n/a	n/a
4	FOSL2	chr7:79100560-79101025	SK-N-SH	brain:	n/a	chr7:79100782-79100794 chr7:79100784-79100792
5	GATA2	chr7:79100672-79100903	HUVEC	blood vessel:	n/a	n/a
6	GATA3	chr7:79100383-79101097	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr7:79100401-79101112	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr7:79100707-79100730	SH-SY5Y	brain:	n/a	n/a
9	JUND	chr7:79100480-79101060	SK-N-SH	brain:	n/a	chr7:79100782-79100794 chr7:79100784-79100792
10	POLR2A	chr7:79102435-79102468	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr7:79101019-79101497	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr7:79101967-79102050	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr7:79101949-79101996	ProgFib	skin:	n/a	n/a
14	POLR2A	chr7:79098492-79099050	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr7:79100897-79101892	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr7:79101637-79102031	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr7:79100617-79100681	ProgFib	skin:	n/a	n/a
18	POLR2A	chr7:79102106-79102195	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr7:79101705-79101774	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr7:79101897-79101914	HUVEC	blood vessel:	n/a	n/a
21	TCF12	chr7:79100462-79101093	SK-N-SH	brain:	n/a	n/a
22	ZNF143	chr7:79102533-79102727	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:79095989..79098582-chr7:79174957..79177392,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAI1-2	chr7:79100099-79100516	ENSG00000234456.2
2	lnc-GNAI1-2	chr7:79099910-79099995	ENSG00000234456.2
3	lnc-GNAI1-2	chr7:79100099-79100431	NONHSAT121719
4	lnc-GNAI1-2	chr7:79100099-79100512	ENSG00000234456.2
5	lnc-GNAI1-2	chr7:79100099-79100452	NONHSAT121725
6	lnc-GNAI1-2	chr7:79099910-79099995	NONHSAT121725
7	lnc-GNAI1-2	chr7:79100099-79100185	NONHSAT121703
8	lnc-GNAI1-2	chr7:79099910-79099995	NONHSAT121717
9	lnc-GNAI1-2	chr7:79100099-79100515	NONHSAT121718
10	lnc-GNAI1-2	chr7:79100099-79100524	ENSG00000234456.2
11	lnc-GNAI1-2	chr7:79098343-79098762	NONHSAT121725
12	lnc-GNAI1-2	chr7:79099743-79099995	ENSG00000234456.2
13	lnc-GNAI1-2	chr7:79099910-79099995	NONHSAT121723
14	lnc-GNAI1-2	chr7:79100099-79100170	NONHSAT121723
15	lnc-GNAI1-2	chr7:79099907-79099997	NONHSAT121718
16	lnc-GNAI1-2	chr7:79100099-79100447	NONHSAT121717
17	lnc-GNAI1-2	chr7:79099910-79099995	NONHSAT121719

No data

Variant related genes	Relation type
MAGI2-AS3	TF binding region

Extended variants
information (count: 237 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561653880	chr7:79098525-79098526	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs192280980	chr7:79098605-79098606	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs543847834	chr7:79098633-79098634	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs149196333	chr7:79098635-79098636	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs532761551	chr7:79098636-79098637	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs577520157	chr7:79098660-79098661	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs540112294	chr7:79098671-79098672	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs113489153	chr7:79098710-79098711	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs560221740	chr7:79098739-79098740	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs185594819	chr7:79098754-79098755	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs142100837	chr7:79098756-79098757	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs569611921	chr7:79098759-79098760	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs151169715	chr7:79098769-79098770	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551826667	chr7:79098839-79098840	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs571638355	chr7:79098850-79098851	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188912810	chr7:79098873-79098874	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs56252871	chr7:79098874-79098875	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114508663	chr7:79098884-79098885	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs17152565	chr7:79098945-79098946	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs57682805	chr7:79098995-79098996	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs527448165	chr7:79099000-79099001	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575189938	chr7:79099003-79099004	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs77368508	chr7:79099010-79099011	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs561989500	chr7:79099039-79099040	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs564189242	chr7:79099048-79099049	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs17152566	chr7:79099055-79099056	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10085575	chr7:79099111-79099112	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79062787	chr7:79099130-79099131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528987696	chr7:79099164-79099165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543277591	chr7:79099175-79099176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563048409	chr7:79099183-79099184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140049696	chr7:79099246-79099247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146940878	chr7:79099263-79099264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200115400	chr7:79099270-79099271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2158706	chr7:79099271-79099272	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201316488	chr7:79099273-79099274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562687088	chr7:79099299-79099300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184181654	chr7:79099330-79099331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114310598	chr7:79099398-79099399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548321316	chr7:79099420-79099421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568513207	chr7:79099492-79099493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548928807	chr7:79099515-79099516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188287040	chr7:79099543-79099544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181111779	chr7:79099564-79099565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200772440	chr7:79099606-79099607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372703284	chr7:79099610-79099611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368346643	chr7:79099641-79099642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10260483	chr7:79099654-79099655	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs374850925	chr7:79099676-79099677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537606822	chr7:79099692-79099693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79084400-79102200	Weak transcription	Left Ventricle	heart
2	chr7:79084600-79101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:79084800-79100800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:79084800-79102800	Weak transcription	HSMM	muscle
5	chr7:79085000-79098600	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:79085000-79099600	Weak transcription	Fetal Stomach	stomach
7	chr7:79086000-79099800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:79086600-79099600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:79086600-79100600	Weak transcription	Brain Anterior Caudate	brain
10	chr7:79086600-79101000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:79086600-79101400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:79086600-79104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:79087600-79099800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:79087800-79099800	Weak transcription	Fetal Lung	lung
15	chr7:79088000-79109600	Weak transcription	Aorta	Aorta
16	chr7:79089000-79098800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:79089000-79102800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:79089200-79100200	Weak transcription	Adipose Nuclei	Adipose
19	chr7:79089200-79109600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:79089400-79101800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:79089800-79099000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:79089800-79101800	Weak transcription	Liver	Liver
23	chr7:79090000-79101000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:79090200-79098600	Weak transcription	NHDF-Ad	bronchial
25	chr7:79091800-79101200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:79092000-79101800	Weak transcription	HUVEC	blood vessel
27	chr7:79092000-79103000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:79092200-79102200	Weak transcription	Ovary	ovary
29	chr7:79094200-79099800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:79094200-79099800	Weak transcription	Brain Substantia Nigra	brain
31	chr7:79094400-79099800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:79096800-79101200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:79097400-79100400	Strong transcription	Osteobl	bone
34	chr7:79097800-79098600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:79097800-79100800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:79098000-79098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:79098000-79099800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:79098400-79099800	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:79098400-79100000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:79098400-79104800	Weak transcription	NHLF	lung
41	chr7:79098600-79100200	Strong transcription	NHDF-Ad	bronchial
42	chr7:79098600-79101000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:79098600-79101400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:79099600-79101600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr7:79099800-79100600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:79099800-79100800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:79099800-79101600	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:79099800-79101600	Enhancers	Brain Hippocampus Middle	brain
49	chr7:79099800-79101600	Enhancers	Brain Substantia Nigra	brain
50	chr7:79100000-79101600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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