Variant report

Variant	esv11868
Chromosome Location	chr4:7214065-7225591
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:7213661..7215472-chr4:7265582..7267704,2	MCF-7	breast:
2	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
3	chr4:7194397..7197077-chr4:7223002..7225801,2	MCF-7	breast:
4	chr4:7221845..7224931-chr4:7225932..7229288,3	MCF-7	breast:
5	chr4:7206601..7211968-chr4:7218042..7220956,6	MCF-7	breast:
6	chr4:7212723..7215466-chr4:7270786..7273618,2	MCF-7	breast:
7	chr4:7195064..7196941-chr4:7218562..7221333,2	MCF-7	breast:
8	chr4:7221313..7223378-chr4:7286434..7289285,2	MCF-7	breast:
9	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
10	chr4:7193967..7198194-chr4:7211180..7216303,6	MCF-7	breast:
11	chr4:7221957..7224622-chr4:7226815..7228448,2	MCF-7	breast:
12	chr4:7216458..7218231-chr4:7235155..7236680,2	K562	blood:
13	chr4:7214030..7216634-chr4:7290499..7293149,2	MCF-7	breast:
14	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
15	chr4:7211941..7214123-chr4:7236956..7238612,2	MCF-7	breast:
16	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
17	chr4:7212738..7214685-chr4:7282671..7285326,2	MCF-7	breast:
18	chr4:7193530..7197644-chr4:7213475..7216614,4	MCF-7	breast:
19	chr4:7222332..7226534-chr4:7227411..7230049,3	K562	blood:
20	chr4:7222332..7224319-chr4:7228549..7231092,2	K562	blood:
21	chr4:7213111..7215832-chr4:7278141..7280454,2	MCF-7	breast:
22	chr4:7225034..7227049-chr4:7228519..7230388,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 681 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4689640	chr4:7214066-7214067	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542842497	chr4:7214080-7214081	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561017156	chr4:7214169-7214170	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575978552	chr4:7214210-7214211	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4689641	chr4:7214221-7214222	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs191456865	chr4:7214225-7214226	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532382915	chr4:7214226-7214227	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547544401	chr4:7214229-7214230	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543778444	chr4:7214238-7214239	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530215360	chr4:7214250-7214251	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548803633	chr4:7214259-7214260	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570248917	chr4:7214261-7214262	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537693557	chr4:7214274-7214275	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150537808	chr4:7214318-7214319	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139439477	chr4:7214452-7214453	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58169997	chr4:7214458-7214459	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532459883	chr4:7214459-7214460	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553571838	chr4:7214495-7214496	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs60342647	chr4:7214500-7214501	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559475779	chr4:7214507-7214508	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554703979	chr4:7214517-7214518	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554094942	chr4:7214556-7214557	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575843829	chr4:7214633-7214634	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561934954	chr4:7214644-7214645	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs57305531	chr4:7214648-7214649	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527610505	chr4:7214649-7214650	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35742986	chr4:7214663-7214664	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569655645	chr4:7214667-7214668	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554422760	chr4:7214693-7214694	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	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
31	rs541447851	chr4:7214722-7214723	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139753924	chr4:7214723-7214724	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530259482	chr4:7214801-7214802	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34442711	chr4:7214834-7214835	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145312335	chr4:7214856-7214857	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182783828	chr4:7214918-7214919	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	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
38	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
39	rs571197664	chr4:7214936-7214937	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144999486	chr4:7214940-7214941	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35648465	chr4:7214965-7214966	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188821327	chr4:7214983-7214984	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146201327	chr4:7214996-7214997	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs386399173	chr4:7214997-7214998	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377755569	chr4:7214998-7214999	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs386356640	chr4:7214999-7215000	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565544667	chr4:7215063-7215064	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536306373	chr4:7215077-7215078	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192028632	chr4:7215147-7215148	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569482798	chr4:7215172-7215173	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7207400-7214400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:7207400-7214600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:7209000-7214200	Enhancers	NH-A	brain
4	chr4:7209600-7215000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:7210000-7215800	Weak transcription	Right Atrium	heart
6	chr4:7210400-7222400	Weak transcription	Brain Anterior Caudate	brain
7	chr4:7210600-7214200	Enhancers	A549	lung
8	chr4:7210800-7218600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:7211000-7214400	Weak transcription	Right Ventricle	heart
10	chr4:7211000-7216200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:7211200-7214400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:7211600-7214200	Enhancers	HSMM	muscle
13	chr4:7211600-7214800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:7212400-7215800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:7212600-7214400	Weak transcription	Lung	lung
16	chr4:7212600-7214600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:7212800-7215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:7212800-7215200	Weak transcription	Fetal Stomach	stomach
19	chr4:7212800-7225400	Weak transcription	Ovary	ovary
20	chr4:7213400-7214200	Enhancers	HSMMtube	muscle
21	chr4:7213400-7214600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:7213400-7215200	Enhancers	Liver	Liver
23	chr4:7213600-7214200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:7213600-7214400	Flanking Active TSS	Hela-S3	cervix
25	chr4:7213800-7214200	Enhancers	HMEC	breast
26	chr4:7213800-7214400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr4:7213800-7214800	Enhancers	HepG2	liver
28	chr4:7213800-7216200	Enhancers	Esophagus	oesophagus
29	chr4:7214000-7214400	Enhancers	Brain Substantia Nigra	brain
30	chr4:7214200-7214600	Enhancers	Adipose Nuclei	Adipose
31	chr4:7214200-7215200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:7214200-7215600	Weak transcription	HSMMtube	muscle
33	chr4:7214200-7218200	Weak transcription	A549	lung
34	chr4:7214200-7219200	Weak transcription	Gastric	stomach
35	chr4:7214400-7215200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:7214400-7215800	ZNF genes & repeats	Lung	lung
37	chr4:7214400-7216600	Enhancers	Hela-S3	cervix
38	chr4:7214400-7217800	Weak transcription	Brain Substantia Nigra	brain
39	chr4:7214600-7214800	Enhancers	Right Ventricle	heart
40	chr4:7214600-7215200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:7214600-7215200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr4:7215200-7215800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:7215200-7216200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:7215200-7216800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:7215200-7216800	ZNF genes & repeats	Fetal Stomach	stomach
46	chr4:7215400-7215800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr4:7215400-7216000	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr4:7215600-7215800	Enhancers	HSMMtube	muscle
49	chr4:7215800-7216600	ZNF genes & repeats	Right Atrium	heart
50	chr4:7216200-7216600	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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