Variant report

Variant	nsv878542
Chromosome Location	chr4:7214696-7276541
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:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7221313..7223378-chr4:7286434..7289285,2	MCF-7	breast:
2	chr4:7222332..7226534-chr4:7227411..7230049,3	K562	blood:
3	chr4:7221957..7224622-chr4:7226815..7228448,2	MCF-7	breast:
4	chr4:7213661..7215472-chr4:7265582..7267704,2	MCF-7	breast:
5	chr4:7248341..7250372-chr4:7253151..7255642,2	MCF-7	breast:
6	chr4:7213661..7215472-chr4:7265582..7267704,2	MCF-7	breast:
7	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
8	chr4:7221845..7224931-chr4:7225932..7229288,3	MCF-7	breast:
9	chr4:7212723..7215466-chr4:7270786..7273618,2	MCF-7	breast:
10	chr4:7214030..7216634-chr4:7290499..7293149,2	MCF-7	breast:
11	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
12	chr4:7261309..7263686-chr4:7264453..7266541,2	MCF-7	breast:
13	chr4:7222332..7224319-chr4:7228549..7231092,2	K562	blood:
14	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
15	chr4:7273206..7276167-chr4:7278106..7279736,2	K562	blood:
16	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
17	chr4:7194397..7197077-chr4:7223002..7225801,2	MCF-7	breast:
18	chr4:7222332..7224319-chr4:7228549..7231092,2	K562	blood:
19	chr4:7228120..7231404-chr4:7234917..7238426,3	MCF-7	breast:
20	chr4:7193967..7198194-chr4:7211180..7216303,6	MCF-7	breast:
21	chr4:7221957..7224622-chr4:7226815..7228448,2	MCF-7	breast:
22	chr4:7212723..7215466-chr4:7270786..7273618,2	MCF-7	breast:
23	chr4:7228120..7231404-chr4:7234917..7238426,3	MCF-7	breast:
24	chr4:7274325..7276110-chr4:7276170..7278835,2	MCF-7	breast:
25	chr4:7274325..7276110-chr4:7276170..7278835,2	MCF-7	breast:
26	chr4:7193530..7197644-chr4:7213475..7216614,4	MCF-7	breast:
27	chr4:7213111..7215832-chr4:7278141..7280454,2	MCF-7	breast:
28	chr4:7216458..7218231-chr4:7235155..7236680,2	K562	blood:
29	chr4:7222332..7226534-chr4:7227411..7230049,3	K562	blood:
30	chr4:7221845..7224931-chr4:7225932..7229288,3	MCF-7	breast:
31	chr4:7216458..7218231-chr4:7235155..7236680,2	K562	blood:
32	chr4:7195064..7196941-chr4:7218562..7221333,2	MCF-7	breast:
33	chr4:7211941..7214123-chr4:7236956..7238612,2	MCF-7	breast:
34	chr4:7225034..7227049-chr4:7228519..7230388,2	K562	blood:
35	chr4:7225034..7227049-chr4:7228519..7230388,2	K562	blood:
36	chr4:7206601..7211968-chr4:7218042..7220956,6	MCF-7	breast:
37	chr4:7248341..7250372-chr4:7253151..7255642,2	MCF-7	breast:
38	chr4:7261309..7263686-chr4:7264453..7266541,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TADA2B-4	chr4:7264564-7264801	NONHSAT095054
2	lnc-TADA2B-4	chr4:7259241-7259517	NONHSAT095054

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 3279 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3279 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11932810	chr4:7214696-7214697	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541447851	chr4:7214722-7214723	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139753924	chr4:7214723-7214724	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530259482	chr4:7214801-7214802	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34442711	chr4:7214834-7214835	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145312335	chr4:7214856-7214857	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182783828	chr4:7214918-7214919	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35825383	chr4:7214932-7214933	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11937057	chr4:7214933-7214934	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571197664	chr4:7214936-7214937	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144999486	chr4:7214940-7214941	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35648465	chr4:7214965-7214966	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188821327	chr4:7214983-7214984	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146201327	chr4:7214996-7214997	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs386399173	chr4:7214997-7214998	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377755569	chr4:7214998-7214999	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs386356640	chr4:7214999-7215000	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565544667	chr4:7215063-7215064	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536306373	chr4:7215077-7215078	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192028632	chr4:7215147-7215148	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569482798	chr4:7215172-7215173	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114892213	chr4:7215174-7215175	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558412647	chr4:7215197-7215198	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13143421	chr4:7215211-7215212	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs13144864	chr4:7215224-7215225	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10008806	chr4:7215229-7215230	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116067328	chr4:7215233-7215234	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542273885	chr4:7215236-7215237	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563801400	chr4:7215248-7215249	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1875338	chr4:7215300-7215301	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs4689642	chr4:7215322-7215323	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564768709	chr4:7215351-7215352	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528738290	chr4:7215361-7215362	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4234796	chr4:7215370-7215371	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565638253	chr4:7215406-7215407	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529675214	chr4:7215440-7215441	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143095978	chr4:7215442-7215443	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547862823	chr4:7215452-7215453	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569448735	chr4:7215624-7215625	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536839928	chr4:7215632-7215633	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs386671173	chr4:7215653-7215654	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114127315	chr4:7215654-7215655	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148675108	chr4:7215661-7215662	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142846083	chr4:7215676-7215677	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574749024	chr4:7215683-7215684	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541891636	chr4:7215685-7215686	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557481355	chr4:7215688-7215689	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371577351	chr4:7215719-7215720	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs151068861	chr4:7215744-7215745	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564628300	chr4:7215763-7215764	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:808 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7209600-7215000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:7210000-7215800	Weak transcription	Right Atrium	heart
3	chr4:7210400-7222400	Weak transcription	Brain Anterior Caudate	brain
4	chr4:7210800-7218600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:7211000-7216200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:7211600-7214800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:7212400-7215800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:7212800-7215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:7212800-7215200	Weak transcription	Fetal Stomach	stomach
10	chr4:7212800-7225400	Weak transcription	Ovary	ovary
11	chr4:7213400-7215200	Enhancers	Liver	Liver
12	chr4:7213800-7214800	Enhancers	HepG2	liver
13	chr4:7213800-7216200	Enhancers	Esophagus	oesophagus
14	chr4:7214200-7215200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:7214200-7215600	Weak transcription	HSMMtube	muscle
16	chr4:7214200-7218200	Weak transcription	A549	lung
17	chr4:7214200-7219200	Weak transcription	Gastric	stomach
18	chr4:7214400-7215200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:7214400-7215800	ZNF genes & repeats	Lung	lung
20	chr4:7214400-7216600	Enhancers	Hela-S3	cervix
21	chr4:7214400-7217800	Weak transcription	Brain Substantia Nigra	brain
22	chr4:7214600-7214800	Enhancers	Right Ventricle	heart
23	chr4:7214600-7215200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:7214600-7215200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:7215200-7215800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:7215200-7216200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:7215200-7216800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:7215200-7216800	ZNF genes & repeats	Fetal Stomach	stomach
29	chr4:7215400-7215800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr4:7215400-7216000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr4:7215600-7215800	Enhancers	HSMMtube	muscle
32	chr4:7215800-7216600	ZNF genes & repeats	Right Atrium	heart
33	chr4:7216200-7216600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
34	chr4:7216200-7219000	Weak transcription	Esophagus	oesophagus
35	chr4:7216400-7216800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:7216600-7217000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:7216600-7218000	Weak transcription	Hela-S3	cervix
38	chr4:7216600-7218000	Weak transcription	HSMMtube	muscle
39	chr4:7216600-7219000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:7216600-7228600	Weak transcription	Right Atrium	heart
41	chr4:7216800-7218000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:7216800-7219200	Weak transcription	Fetal Stomach	stomach
43	chr4:7216800-7227200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:7217800-7218600	Enhancers	Brain Substantia Nigra	brain
45	chr4:7218000-7218200	Enhancers	Brain Angular Gyrus	brain
46	chr4:7218000-7218600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:7218000-7219000	Enhancers	Hela-S3	cervix
48	chr4:7218000-7220400	Enhancers	HSMMtube	muscle
49	chr4:7218000-7221000	Enhancers	Liver	Liver
50	chr4:7218200-7219000	Enhancers	A549	lung

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