Variant report

Variant	nsv1023653
Chromosome Location	chr7:79320516-79410073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:79363150..79365302-chr7:79371609..79373122,2	K562	blood:
2	chr7:79338433..79339397-chr7:152133508..152134213,2	HCT-116	colon:
3	chr7:79363150..79365302-chr7:79371609..79373122,2	K562	blood:
4	chr7:78927254..78927762-chr7:79370740..79371579,2	MCF-7	breast:
5	chr7:79172962..79175955-chr7:79321680..79323879,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAI1-1	chr7:79327350-79327464	XLOC_006156
2	lnc-GNAI1-1	chr7:79327951-79328605	XLOC_006156

No data

Variant related genes	Relation type
ENSG00000241735	chromatin interactions
ENSG00000226285	chromatin interactions

Extended variants
information (count: 2313 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2313 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10499845	chr7:79320547-79320548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567307871	chr7:79320560-79320561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530050536	chr7:79320578-79320579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191637532	chr7:79320605-79320606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10499846	chr7:79320690-79320691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs565575661	chr7:79320696-79320697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527645737	chr7:79320717-79320718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2365695	chr7:79320736-79320737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183527278	chr7:79320787-79320788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543873112	chr7:79320873-79320874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188992073	chr7:79320920-79320921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193128983	chr7:79321048-79321049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557181846	chr7:79321050-79321051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35274700	chr7:79321128-79321129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574139101	chr7:79321159-79321160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58201375	chr7:79321166-79321167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139243979	chr7:79321269-79321270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141185807	chr7:79321302-79321303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556541466	chr7:79321313-79321314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576666731	chr7:79321333-79321334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375095584	chr7:79321343-79321344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545424659	chr7:79321344-79321345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146967422	chr7:79321345-79321346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375950948	chr7:79321362-79321363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549001608	chr7:79321416-79321417	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs80167800	chr7:79321490-79321491	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs535276639	chr7:79321523-79321524	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs537727711	chr7:79321525-79321526	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs541093699	chr7:79321527-79321528	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs368544058	chr7:79321537-79321538	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs371969815	chr7:79321538-79321539	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs375207142	chr7:79321539-79321540	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs200973808	chr7:79321540-79321541	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs367747041	chr7:79321571-79321572	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs371226460	chr7:79321572-79321573	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs374701932	chr7:79321575-79321576	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs530196607	chr7:79321593-79321594	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs7783983	chr7:79321596-79321597	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79192219	chr7:79321602-79321603	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs569991402	chr7:79321636-79321637	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs112232629	chr7:79321690-79321691	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183614381	chr7:79321692-79321693	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78175644	chr7:79321694-79321695	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79019199	chr7:79321711-79321712	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533990944	chr7:79321734-79321735	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs2462130	chr7:79321752-79321753	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs567379819	chr7:79321754-79321755	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536394314	chr7:79321759-79321760	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372487699	chr7:79321761-79321762	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149464695	chr7:79321768-79321769	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79320000-79321000	Weak transcription	Fetal Intestine Small	intestine
2	chr7:79320800-79322200	Enhancers	HMEC	breast
3	chr7:79321000-79321400	Enhancers	Fetal Intestine Large	intestine
4	chr7:79321000-79321800	Enhancers	Fetal Intestine Small	intestine
5	chr7:79321000-79322000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:79321000-79322400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:79321200-79322000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:79321200-79322000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:79321200-79322000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:79321200-79322000	Enhancers	NHEK	skin
11	chr7:79321400-79321800	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr7:79321400-79321800	Enhancers	NH-A	brain
13	chr7:79321600-79322000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:79321600-79322000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:79321600-79322000	Enhancers	Osteobl	bone
16	chr7:79322400-79322800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:79322800-79323000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:79323000-79331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:79331600-79332000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:79332000-79339000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:79334400-79334800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:79334800-79335200	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:79336000-79336400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:79338200-79339600	Enhancers	HUVEC	blood vessel
25	chr7:79338800-79339200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:79338800-79339400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:79338800-79339600	Enhancers	Osteobl	bone
28	chr7:79339000-79339400	Enhancers	Hela-S3	cervix
29	chr7:79339000-79339600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:79339000-79339600	Enhancers	NH-A	brain
31	chr7:79339000-79339800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:79339400-79343200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:79339600-79340400	Weak transcription	Osteobl	bone
34	chr7:79340200-79340400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:79340400-79341000	Enhancers	Osteobl	bone
36	chr7:79340400-79342800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:79342400-79342800	Enhancers	Fetal Lung	lung
38	chr7:79346400-79346600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:79346400-79347000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:79346600-79348400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:79348400-79348600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:79348400-79348800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:79348600-79349200	Enhancers	Left Ventricle	heart
44	chr7:79348600-79351000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr7:79348800-79349200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr7:79348800-79353800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:79349000-79349200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:79349000-79349200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:79349000-79349400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:79349000-79349400	Enhancers	Brain Germinal Matrix	brain

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