Variant report

Variant	esv2759502
Chromosome Location	chr7:4339413-4439237
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
2	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
3	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
4	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
5	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
6	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
7	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
8	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
9	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
10	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
11	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
12	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
13	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
14	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:

No data

Extended variants
information (count: 1017 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1017 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567817160	chr7:4342621-4342622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553481352	chr7:4342635-4342636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556378715	chr7:4342665-4342666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576507833	chr7:4342683-4342684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71527485	chr7:4342684-4342685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369034183	chr7:4342724-4342725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186486790	chr7:4342727-4342728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572111928	chr7:4342755-4342756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190877848	chr7:4342758-4342759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181734332	chr7:4342762-4342763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187155522	chr7:4342763-4342764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367777669	chr7:4342769-4342770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543632477	chr7:4342807-4342808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572792400	chr7:4342809-4342810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539025280	chr7:4342816-4342817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552319654	chr7:4342817-4342818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146368497	chr7:4342835-4342836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528101368	chr7:4342853-4342854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73047650	chr7:4342881-4342882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557282514	chr7:4342910-4342911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371722145	chr7:4342921-4342922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191535468	chr7:4342924-4342925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536422323	chr7:4342977-4342978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375278721	chr7:4342981-4342982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550384114	chr7:4342984-4342985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570170972	chr7:4342999-4343000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79638787	chr7:4343007-4343008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139654744	chr7:4343009-4343010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572098039	chr7:4343064-4343065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10248316	chr7:4343074-4343075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543277505	chr7:4343076-4343077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373731683	chr7:4343077-4343078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554981472	chr7:4343079-4343080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142575813	chr7:4343113-4343114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574708756	chr7:4343137-4343138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540456404	chr7:4343177-4343178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183404552	chr7:4343188-4343189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551038505	chr7:4346021-4346022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571857430	chr7:4346044-4346045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534439339	chr7:4346138-4346139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183614681	chr7:4346144-4346145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574115344	chr7:4346176-4346177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188279319	chr7:4346187-4346188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536648713	chr7:4346224-4346225	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138826285	chr7:4346227-4346228	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576032349	chr7:4346282-4346283	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544621404	chr7:4346287-4346288	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548336501	chr7:4346290-4346291	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544864109	chr7:4346295-4346296	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114453377	chr7:4346319-4346320	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4342600-4343200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr7:4346000-4346600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:4346200-4346400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr7:4346200-4347400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr7:4346400-4347600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:4346600-4347000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:4347000-4347600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr7:4347000-4347800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:4347200-4347400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr7:4347200-4347800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr7:4347400-4347600	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
12	chr7:4347400-4347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:4347400-4348200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:4347600-4347800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr7:4347800-4348000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:4347800-4348000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:4348000-4349200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:4348200-4349200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:4349200-4349400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:4349200-4349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:4349600-4349800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:4349800-4350000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:4365200-4366200	Enhancers	HepG2	liver
24	chr7:4376600-4378200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:4377600-4378000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:4377800-4378000	Bivalent Enhancer	HepG2	liver
27	chr7:4378000-4378200	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr7:4378200-4378400	Bivalent Enhancer	HepG2	liver
29	chr7:4382800-4384400	Enhancers	HepG2	liver
30	chr7:4383200-4383400	Enhancers	Fetal Intestine Small	intestine
31	chr7:4383400-4383600	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr7:4383400-4384000	Active TSS	Fetal Intestine Large	intestine
33	chr7:4383600-4384000	Active TSS	Fetal Intestine Small	intestine
34	chr7:4384000-4384200	Enhancers	Fetal Intestine Large	intestine
35	chr7:4384400-4384800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:4397600-4398000	Enhancers	Fetal Muscle Trunk	muscle
37	chr7:4397600-4398200	Enhancers	Fetal Muscle Leg	muscle
38	chr7:4397800-4398000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:4403000-4403600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:4403600-4404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:4404400-4406600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:4406600-4407200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:4408000-4410200	Weak transcription	Aorta	Aorta
44	chr7:4410200-4410800	ZNF genes & repeats	Aorta	Aorta
45	chr7:4410400-4410800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:4425800-4426200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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