Variant report

Variant	esv3406666
Chromosome Location	chr7:4013526-4018524
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	chr7:4011902..4014753-chr7:4043521..4046238,2	MCF-7	breast:
2	chr7:4017263..4020114-chr7:4033436..4035311,2	MCF-7	breast:

Extended variants
information (count: 395 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:395 , 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	rs563260322	chr7:4013541-4013542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576896678	chr7:4013548-4013549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545561659	chr7:4013562-4013563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565512799	chr7:4013573-4013574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527880100	chr7:4013584-4013585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368634102	chr7:4013585-4013586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547689999	chr7:4013590-4013591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111846144	chr7:4013610-4013611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182421101	chr7:4013616-4013617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561209110	chr7:4013642-4013643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186537669	chr7:4013643-4013644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550121775	chr7:4013698-4013699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569929164	chr7:4013746-4013747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191967799	chr7:4013755-4013756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552381522	chr7:4013761-4013762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565883640	chr7:4013775-4013776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371926154	chr7:4013790-4013791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77669942	chr7:4013815-4013816	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10630472	chr7:4013816-4013817	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534767773	chr7:4013829-4013830	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs398003462	chr7:4013832-4013833	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs75912373	chr7:4013839-4013840	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565825895	chr7:4013858-4013859	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs115630390	chr7:4013895-4013896	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117522013	chr7:4013908-4013909	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs556948684	chr7:4013935-4013936	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs371974966	chr7:4013956-4013957	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576750915	chr7:4013967-4013968	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs545926945	chr7:4013971-4013972	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374999511	chr7:4013977-4013978	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369052627	chr7:4013983-4013984	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs139701086	chr7:4013984-4013985	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201249838	chr7:4013988-4013989	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs372547371	chr7:4013989-4013990	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs377293448	chr7:4013995-4013996	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs144399003	chr7:4014001-4014002	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199917916	chr7:4014004-4014005	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369903581	chr7:4014013-4014014	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141337323	chr7:4014021-4014022	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6977582	chr7:4014022-4014023	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376668095	chr7:4014027-4014028	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563742795	chr7:4014031-4014032	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs36103726	chr7:4014039-4014040	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552648674	chr7:4014043-4014044	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199809294	chr7:4014045-4014046	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375345968	chr7:4014046-4014047	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78188420	chr7:4014055-4014056	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147156647	chr7:4014056-4014057	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548430447	chr7:4014064-4014065	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367934053	chr7:4014070-4014071	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription 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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3988600-4032600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:3989200-4013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:3989400-4031000	Weak transcription	Right Ventricle	heart
4	chr7:3989800-4020800	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:3996200-4017200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:3996400-4015800	Weak transcription	HSMM	muscle
7	chr7:3996400-4037600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:3997000-4019400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:3998000-4020800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:3998400-4045600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:4000200-4016200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:4000200-4032600	Weak transcription	Adipose Nuclei	Adipose
13	chr7:4001800-4014600	Weak transcription	Fetal Intestine Large	intestine
14	chr7:4001800-4016800	Weak transcription	Fetal Brain Male	brain
15	chr7:4001800-4016800	Weak transcription	Fetal Kidney	kidney
16	chr7:4002000-4014000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:4002400-4014200	Weak transcription	Fetal Brain Female	brain
18	chr7:4002400-4016600	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:4006000-4014000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:4007800-4027200	Weak transcription	Spleen	Spleen
21	chr7:4008000-4016800	Weak transcription	Brain Germinal Matrix	brain
22	chr7:4008000-4020600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:4008000-4021600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:4008000-4030400	Weak transcription	Gastric	stomach
25	chr7:4008200-4020800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:4008600-4015200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:4009200-4014000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:4009200-4014000	Weak transcription	Fetal Stomach	stomach
29	chr7:4009200-4014200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:4010200-4016200	Weak transcription	Ovary	ovary
31	chr7:4011200-4013800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:4011400-4014000	Weak transcription	Pancreas	Pancrea
33	chr7:4011600-4014000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:4012200-4013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:4012600-4015600	Strong transcription	Aorta	Aorta
36	chr7:4012800-4014000	Weak transcription	Fetal Intestine Small	intestine
37	chr7:4013000-4013800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:4013400-4021800	Weak transcription	Fetal Lung	lung
39	chr7:4013800-4014200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:4013800-4015600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:4013800-4015600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:4013800-4015600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:4014000-4014200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:4014000-4014200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:4014000-4014200	Weak transcription	Esophagus	oesophagus
46	chr7:4014000-4014200	ZNF genes & repeats	Pancreas	Pancrea
47	chr7:4014000-4014400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:4014000-4015600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:4014000-4015600	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr7:4014000-4015600	ZNF genes & repeats	Fetal Stomach	stomach

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