Variant report

Variant	esv9567
Chromosome Location	chr4:3613115-3618786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3614332..3616102-chr4:3632475..3634431,2	MCF-7	breast:
2	chr4:3614687..3616600-chr4:3620839..3622694,2	MCF-7	breast:

Extended variants
information (count: 382 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530639836	chr4:3613119-3613120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550780116	chr4:3613126-3613127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567333413	chr4:3613134-3613135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536181017	chr4:3613155-3613156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1318350	chr4:3613164-3613165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4999446	chr4:3613192-3613193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566132640	chr4:3613196-3613197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538204112	chr4:3613199-3613200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4999445	chr4:3613211-3613212	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs537544496	chr4:3613213-3613214	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs182511202	chr4:3613216-3613217	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs4999444	chr4:3613225-3613226	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs558381563	chr4:3613229-3613230	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs4999443	chr4:3613233-3613234	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs4999442	chr4:3613249-3613250	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs575329169	chr4:3613257-3613258	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs4999441	chr4:3613267-3613268	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs114634689	chr4:3613270-3613271	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs4999440	chr4:3613277-3613278	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs73204962	chr4:3613288-3613289	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs574933198	chr4:3613304-3613305	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs368401267	chr4:3613307-3613308	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs560727599	chr4:3613308-3613309	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs73204963	chr4:3613318-3613319	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs73204964	chr4:3613323-3613324	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs577326653	chr4:3613338-3613339	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs80297839	chr4:3613339-3613340	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs74350965	chr4:3613350-3613351	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs75002925	chr4:3613365-3613366	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs186798703	chr4:3613374-3613375	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs577080745	chr4:3613386-3613387	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs567663752	chr4:3613389-3613390	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs538037560	chr4:3613391-3613392	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs548382395	chr4:3613405-3613406	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs561182639	chr4:3613406-3613407	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs556350618	chr4:3613461-3613462	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs192726547	chr4:3613469-3613470	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs541028208	chr4:3613489-3613490	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs553086858	chr4:3613496-3613497	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs184116815	chr4:3613513-3613514	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs73204965	chr4:3613542-3613543	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149236451	chr4:3613543-3613544	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs189131973	chr4:3613569-3613570	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs75908248	chr4:3613586-3613587	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs539147563	chr4:3613592-3613593	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs575096771	chr4:3613594-3613595	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs534356448	chr4:3613629-3613630	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs144455125	chr4:3613638-3613639	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs577640028	chr4:3613654-3613655	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs73204966	chr4:3613673-3613674	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3610000-3614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:3611600-3614400	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:3612600-3613200	ZNF genes & repeats	Spleen	Spleen
4	chr4:3612600-3615000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:3612800-3613200	ZNF genes & repeats	Pancreas	Pancrea
6	chr4:3612800-3613400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:3612800-3613400	ZNF genes & repeats	Gastric	stomach
8	chr4:3613200-3613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:3613200-3613800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:3613200-3614600	Weak transcription	Pancreas	Pancrea
11	chr4:3613200-3614800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:3613200-3615600	Weak transcription	Adipose Nuclei	Adipose
13	chr4:3613400-3613600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:3613400-3614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:3613400-3614600	Weak transcription	Gastric	stomach
16	chr4:3613600-3614400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:3614400-3614600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:3614400-3614600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:3614400-3614600	Weak transcription	Spleen	Spleen
20	chr4:3614400-3615000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:3614400-3616400	Enhancers	Fetal Muscle Leg	muscle
22	chr4:3614600-3614800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:3614600-3614800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:3614600-3614800	Enhancers	Fetal Brain Female	brain
25	chr4:3614600-3615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:3614600-3615000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:3614600-3615000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
28	chr4:3614600-3615000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:3614600-3615000	ZNF genes & repeats	Fetal Brain Male	brain
30	chr4:3614600-3615000	ZNF genes & repeats	Fetal Kidney	kidney
31	chr4:3614600-3615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:3614600-3616000	Enhancers	Gastric	stomach
33	chr4:3614600-3616400	Enhancers	Spleen	Spleen
34	chr4:3614600-3616400	Enhancers	HSMMtube	muscle
35	chr4:3614600-3616600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:3614600-3616600	Enhancers	Pancreas	Pancrea
37	chr4:3614800-3615000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr4:3614800-3615400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:3614800-3615800	Weak transcription	Fetal Brain Female	brain
40	chr4:3614800-3616200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr4:3614800-3616400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:3614800-3616400	Enhancers	Ovary	ovary
43	chr4:3614800-3616600	Enhancers	HSMM	muscle
44	chr4:3615000-3615600	Weak transcription	Fetal Brain Male	brain
45	chr4:3615000-3616000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:3615000-3616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:3615000-3617200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:3615000-3617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:3615400-3616800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:3615600-3616000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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