Variant report

Variant	nsv607660
Chromosome Location	chr7:78644077-78666050
allele	n/a
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	CEBPB	chr7:78660536-78660843	HepG2	liver:	n/a	chr7:78660683-78660694
2	CEBPB	chr7:78660521-78660831	IMR90	lung:	n/a	chr7:78660683-78660694
3	CTCF	chr7:78654494-78654567	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr7:78649972-78650045	GM20000	blood:	n/a	n/a
5	CTCF	chr7:78648285-78648299	GM13977	blood:	n/a	n/a
6	CTCF	chr7:78648577-78648640	GM13977	blood:	n/a	n/a
7	GATA3	chr7:78660315-78660632	SH-SY5Y	brain:	n/a	chr7:78660339-78660355 chr7:78660343-78660352
8	GATA3	chr7:78656376-78656533	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr7:78665760-78665770	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr7:78654089-78654141	SH-SY5Y	brain:	n/a	n/a
11	IKZF1	chr7:78654994-78655028	GM12878	blood:	n/a	n/a
12	MAFF	chr7:78658362-78658606	HepG2	liver:	n/a	n/a
13	MAFF	chr7:78665211-78665543	K562	blood:	n/a	chr7:78665367-78665385
14	MAFF	chr7:78665192-78665554	HepG2	liver:	n/a	chr7:78665367-78665385
15	MAFK	chr7:78665250-78665554	Hela-S3	cervix:	n/a	chr7:78665373-78665384 chr7:78665368-78665384 chr7:78665365-78665381 chr7:78665363-78665383 chr7:78665373-78665384 chr7:78665366-78665380 chr7:78665368-78665383 chr7:78665371-78665385 chr7:78665372-78665383
16	MAFK	chr7:78665200-78665653	GM12878	blood:	n/a	chr7:78665373-78665384 chr7:78665368-78665384 chr7:78665365-78665381 chr7:78665363-78665383 chr7:78665373-78665384 chr7:78665366-78665380 chr7:78665368-78665383 chr7:78665371-78665385 chr7:78665372-78665383
17	MAFK	chr7:78665189-78665558	HepG2	liver:	n/a	chr7:78665373-78665384 chr7:78665368-78665384 chr7:78665365-78665381 chr7:78665363-78665383 chr7:78665373-78665384 chr7:78665366-78665380 chr7:78665368-78665383 chr7:78665371-78665385 chr7:78665372-78665383
18	MAFK	chr7:78665212-78665551	H1-hESC	embryonic stem cell:	n/a	chr7:78665373-78665384 chr7:78665368-78665384 chr7:78665365-78665381 chr7:78665363-78665383 chr7:78665373-78665384 chr7:78665366-78665380 chr7:78665368-78665383 chr7:78665371-78665385 chr7:78665372-78665383
19	MAFK	chr7:78665184-78665559	HepG2	liver:	n/a	chr7:78665373-78665384 chr7:78665368-78665384 chr7:78665365-78665381 chr7:78665363-78665383 chr7:78665373-78665384 chr7:78665366-78665380 chr7:78665368-78665383 chr7:78665371-78665385 chr7:78665372-78665383
20	MAFK	chr7:78658382-78658629	HepG2	liver:	n/a	chr7:78658532-78658543 chr7:78658531-78658542 chr7:78658532-78658543 chr7:78658531-78658547 chr7:78658530-78658544 chr7:78658532-78658552 chr7:78658531-78658542
21	MAFK	chr7:78665189-78665561	IMR90	lung:	n/a	chr7:78665373-78665384 chr7:78665368-78665384 chr7:78665365-78665381 chr7:78665363-78665383 chr7:78665373-78665384 chr7:78665366-78665380 chr7:78665368-78665383 chr7:78665371-78665385 chr7:78665372-78665383
22	MAFK	chr7:78665204-78665548	K562	blood:	n/a	chr7:78665373-78665384 chr7:78665368-78665384 chr7:78665365-78665381 chr7:78665363-78665383 chr7:78665373-78665384 chr7:78665366-78665380 chr7:78665368-78665383 chr7:78665371-78665385 chr7:78665372-78665383
23	MAZ	chr7:78657044-78657075	HepG2	liver:	n/a	n/a
24	MYC	chr7:78645920-78646000	MCF-7	breast:	n/a	n/a
25	NFYB	chr7:78661094-78661294	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:78650068-78650192	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr7:78656763-78656852	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr7:78645820-78645986	MCF-7	breast:	n/a	n/a
29	POLR2A	chr7:78645879-78645881	A549	lung:	n/a	n/a
30	POLR2A	chr7:78645857-78646366	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:78645817-78645818	MCF-7	breast:	n/a	n/a
32	POLR2A	chr7:78655921-78655961	ProgFib	skin:	n/a	n/a
33	POLR2A	chr7:78644785-78644967	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr7:78650300-78650421	Gliobla	brain:	n/a	n/a
35	REST	chr7:78650062-78650249	H1-hESC	embryonic stem cell:	n/a	n/a
36	STAT3	chr7:78665834-78666119	MCF10A-Er-Src	breast:	n/a	n/a
37	ZNF384	chr7:78656185-78656277	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:78659337-78659387	GM19239	blood:	n/a
2	chr7:78659337-78659387	IMR90	lung:	fetal
3	chr7:78659337-78659387	PrEC	prostate:	n/a
4	chr7:78659337-78659387	A549	lung:	n/a
5	chr7:78659337-78659387	HCPEpiC	choroid plexus:	n/a
6	chr7:78659337-78659387	NT2-D1	testis:	n/a
7	chr7:78659337-78659387	HMEC	breast:	n/a
8	chr7:78659337-78659387	SK-N-SH_RA	brain:	n/a
9	chr7:78659337-78659387	Caco-2	colon:	n/a
10	chr7:78659337-78659387	ProgFib	skin:	n/a
11	chr7:78659337-78659387	U87	brain:	n/a
12	chr7:78659337-78659387	AG04449	skin:	fetal
13	chr7:78659337-78659387	AoSMC	blood vessel:	n/a
14	chr7:78659337-78659387	SAEC	small airway:	n/a
15	chr7:78659337-78659387	NHDF-neo	bronchial:	n/a
16	chr7:78659337-78659387	HepG2	liver:	n/a
17	chr7:78659337-78659387	ECC-1	luminal epithelium:	n/a
18	chr7:78659337-78659387	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:78659337-78659387	HNPCEpiC	eye:	n/a
20	chr7:78659337-78659387	HAEpiC	amniotic membrane:	n/a
21	chr7:78659337-78659387	HEEpiC	esophagus:	n/a
22	chr7:78659337-78659387	ovcar-3	ovarian:	n/a
23	chr7:78659337-78659387	HCM	heart:	n/a
24	chr7:78659337-78659387	AG09319	gingival:	n/a
25	chr7:78659337-78659387	Hepatocyte	liver:	n/a
26	chr7:78659337-78659387	HCF	heart:	n/a
27	chr7:78659337-78659387	Hela-S3	cervix:	n/a
28	chr7:78659337-78659387	HIPEpiC	eye:	n/a
29	chr7:78659337-78659387	GM12892	blood:	n/a
30	chr7:78659337-78659387	RPTEC	kidney:	n/a
31	chr7:78659337-78659387	GM12891	blood:	n/a
32	chr7:78659337-78659387	GM06990	blood:	n/a
33	chr7:78659337-78659387	GM12878	blood:	n/a
34	chr7:78659337-78659387	PANC-1	pancreas:	n/a
35	chr7:78659337-78659387	K562	blood:	n/a
36	chr7:78659337-78659387	PFSK-1	brain:	n/a
37	chr7:78659337-78659387	AG04450	lung:	fetal
38	chr7:78659337-78659387	AG09309	skin:	n/a
39	chr7:78659337-78659387	HCT-116	colon:	n/a
40	chr7:78659337-78659387	HUVEC	blood vessel:	n/a
41	chr7:78659337-78659387	HRCEpiC	kidney:	n/a
42	chr7:78659337-78659387	SK-N-MC	brain:	n/a
43	chr7:78659337-78659387	NHBE	bronchial:	n/a
44	chr7:78659337-78659387	Jurkat	blood:	n/a
45	chr7:78659337-78659387	HL-60	blood:	n/a
46	chr7:78659337-78659387	CMK	blood:	n/a
47	chr7:78659337-78659387	NB4	blood:	n/a
48	chr7:78659337-78659387	T-47D	breast:	n/a
49	chr7:78659337-78659387	NH-A	brain:	n/a
50	chr7:78659337-78659387	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:78656805..78659401-chr7:78662080..78664588,2	K562	blood:
2	chr7:78654781..78656773-chr7:78658469..78660779,2	K562	blood:
3	chr7:78656805..78659401-chr7:78662080..78664588,2	K562	blood:

Variant related genes	Relation type
RNU6-337P	TF binding region
RNU6-337P	CpG island
ENSG00000212545	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1476106	chr7:78644077-78644078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193070419	chr7:78644080-78644081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552839843	chr7:78644130-78644131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571708184	chr7:78644153-78644154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576277066	chr7:78644168-78644169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573056318	chr7:78644233-78644234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141045572	chr7:78644276-78644277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562012795	chr7:78644283-78644284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185066565	chr7:78644346-78644347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188727944	chr7:78644349-78644350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545262553	chr7:78644455-78644456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544610916	chr7:78644521-78644522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193022967	chr7:78644546-78644547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535874899	chr7:78644572-78644573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372114513	chr7:78644573-78644574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116171864	chr7:78644582-78644583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375167370	chr7:78644591-78644592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7807319	chr7:78644592-78644593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112404804	chr7:78644607-78644608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185702269	chr7:78644610-78644611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188277473	chr7:78644626-78644627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78840062	chr7:78644627-78644628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181031942	chr7:78644645-78644646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199527886	chr7:78644659-78644660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557015212	chr7:78644662-78644663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201444944	chr7:78644667-78644668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199808505	chr7:78644668-78644669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35308983	chr7:78644669-78644670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547160885	chr7:78644707-78644708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7789063	chr7:78644737-78644738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539067633	chr7:78644741-78644742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552612226	chr7:78644751-78644752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529345806	chr7:78644766-78644767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80036344	chr7:78644816-78644817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541994175	chr7:78644818-78644819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7791770	chr7:78644843-78644844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575472080	chr7:78644844-78644845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371976632	chr7:78644867-78644868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150113413	chr7:78644876-78644877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113866341	chr7:78644900-78644901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540284114	chr7:78644902-78644903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7792974	chr7:78644951-78644952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs7779315	chr7:78644960-78644961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535320408	chr7:78644972-78644973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549533462	chr7:78644976-78644977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184105768	chr7:78644986-78644987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188785378	chr7:78645003-78645004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112849895	chr7:78645049-78645050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138552735	chr7:78645051-78645052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141513394	chr7:78645060-78645061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Prostate cancer	18632612	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
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78632600-78648800	Weak transcription	Aorta	Aorta
2	chr7:78645400-78645800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:78645400-78645800	Enhancers	Brain Cingulate Gyrus	brain
4	chr7:78645600-78646400	ZNF genes & repeats	Pancreas	Pancrea
5	chr7:78645800-78646000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:78645800-78646400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:78645800-78646600	Enhancers	Lung	lung
8	chr7:78645800-78646800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:78646200-78646600	Enhancers	Brain Angular Gyrus	brain
10	chr7:78646800-78650200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:78648800-78649200	ZNF genes & repeats	Aorta	Aorta
12	chr7:78650200-78650600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:78665400-78667000	Enhancers	Fetal Lung	lung
14	chr7:78665400-78667400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:78665800-78666400	Enhancers	Colon Smooth Muscle	Colon

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