Variant report

Variant	esv3360183
Chromosome Location	chr4:7215751-7219199
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7213111..7215832-chr4:7278141..7280454,2	MCF-7	breast:
2	chr4:7193530..7197644-chr4:7213475..7216614,4	MCF-7	breast:
3	chr4:7206601..7211968-chr4:7218042..7220956,6	MCF-7	breast:
4	chr4:7193967..7198194-chr4:7211180..7216303,6	MCF-7	breast:
5	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
6	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
7	chr4:7195064..7196941-chr4:7218562..7221333,2	MCF-7	breast:
8	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
9	chr4:7214030..7216634-chr4:7290499..7293149,2	MCF-7	breast:
10	chr4:7216458..7218231-chr4:7235155..7236680,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs564628300	chr4:7215763-7215764	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576929554	chr4:7215787-7215788	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573371386	chr4:7215822-7215823	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10937792	chr4:7215861-7215862	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559537316	chr4:7215883-7215884	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562269990	chr4:7215928-7215929	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12643248	chr4:7215934-7215935	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12643249	chr4:7215951-7215952	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187844938	chr4:7215958-7215959	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs192367183	chr4:7215959-7215960	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551866152	chr4:7216085-7216086	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184520649	chr4:7216117-7216118	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7664358	chr4:7216154-7216155	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546856965	chr4:7216197-7216198	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568304004	chr4:7216218-7216219	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535846740	chr4:7216224-7216225	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115253255	chr4:7216268-7216269	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575716723	chr4:7216307-7216308	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7680735	chr4:7216308-7216309	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188997766	chr4:7216327-7216328	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376413027	chr4:7216334-7216335	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181601367	chr4:7216349-7216350	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141181696	chr4:7216364-7216365	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375238451	chr4:7216367-7216368	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540508476	chr4:7216390-7216391	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144969386	chr4:7216401-7216402	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574301919	chr4:7216420-7216421	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551934226	chr4:7216427-7216428	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368224706	chr4:7216428-7216429	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146794956	chr4:7216445-7216446	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562904885	chr4:7216446-7216447	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570420464	chr4:7216463-7216464	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551827507	chr4:7216478-7216479	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112165649	chr4:7216522-7216523	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528279838	chr4:7216548-7216549	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11725639	chr4:7216550-7216551	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371649491	chr4:7216555-7216556	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568248238	chr4:7216559-7216560	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184700383	chr4:7216582-7216583	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs150493176	chr4:7216583-7216584	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34899845	chr4:7216595-7216596	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138248219	chr4:7216601-7216602	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539866963	chr4:7216603-7216604	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189195272	chr4:7216677-7216678	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181525207	chr4:7216688-7216689	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534402411	chr4:7216695-7216696	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555635820	chr4:7216696-7216697	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574188152	chr4:7216700-7216701	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs116041441	chr4:7216704-7216705	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs62289674	chr4:7216705-7216706	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7210000-7215800	Weak transcription	Right Atrium	heart
2	chr4:7210400-7222400	Weak transcription	Brain Anterior Caudate	brain
3	chr4:7210800-7218600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:7211000-7216200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:7212400-7215800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:7212800-7225400	Weak transcription	Ovary	ovary
7	chr4:7213800-7216200	Enhancers	Esophagus	oesophagus
8	chr4:7214200-7218200	Weak transcription	A549	lung
9	chr4:7214200-7219200	Weak transcription	Gastric	stomach
10	chr4:7214400-7215800	ZNF genes & repeats	Lung	lung
11	chr4:7214400-7216600	Enhancers	Hela-S3	cervix
12	chr4:7214400-7217800	Weak transcription	Brain Substantia Nigra	brain
13	chr4:7215200-7215800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7215200-7216200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:7215200-7216800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:7215200-7216800	ZNF genes & repeats	Fetal Stomach	stomach
17	chr4:7215400-7215800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:7215400-7216000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr4:7215600-7215800	Enhancers	HSMMtube	muscle
20	chr4:7215800-7216600	ZNF genes & repeats	Right Atrium	heart
21	chr4:7216200-7216600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
22	chr4:7216200-7219000	Weak transcription	Esophagus	oesophagus
23	chr4:7216400-7216800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:7216600-7217000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:7216600-7218000	Weak transcription	Hela-S3	cervix
26	chr4:7216600-7218000	Weak transcription	HSMMtube	muscle
27	chr4:7216600-7219000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:7216600-7228600	Weak transcription	Right Atrium	heart
29	chr4:7216800-7218000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:7216800-7219200	Weak transcription	Fetal Stomach	stomach
31	chr4:7216800-7227200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:7217800-7218600	Enhancers	Brain Substantia Nigra	brain
33	chr4:7218000-7218200	Enhancers	Brain Angular Gyrus	brain
34	chr4:7218000-7218600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:7218000-7219000	Enhancers	Hela-S3	cervix
36	chr4:7218000-7220400	Enhancers	HSMMtube	muscle
37	chr4:7218000-7221000	Enhancers	Liver	Liver
38	chr4:7218200-7219000	Enhancers	A549	lung
39	chr4:7218400-7219800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:7218600-7219600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:7218600-7220600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:7218600-7220800	Enhancers	Lung	lung
43	chr4:7218600-7228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:7218800-7219600	Enhancers	Fetal Muscle Leg	muscle
45	chr4:7218800-7219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:7218800-7219800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:7218800-7219800	Enhancers	Colonic Mucosa	Colon
48	chr4:7218800-7219800	Enhancers	HMEC	breast
49	chr4:7218800-7220000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr4:7218800-7221800	Enhancers	HSMM	muscle

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