Variant report

Variant	esv3445954
Chromosome Location	chr7:4286626-4289924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4266434..4268284-chr7:4284245..4288090,3	MCF-7	breast:
2	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
3	chr7:4285802..4287439-chr7:4291050..4292753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146555	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74396840	chr7:4286646-4286647	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547403222	chr7:4286702-4286703	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144626816	chr7:4286709-4286710	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527376589	chr7:4286725-4286726	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547505858	chr7:4286728-4286729	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181430149	chr7:4286747-4286748	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536303011	chr7:4286749-4286750	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549655875	chr7:4286787-4286788	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569583692	chr7:4286838-4286839	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs929371	chr7:4286839-4286840	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185719644	chr7:4286848-4286849	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368439558	chr7:4286883-4286884	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76340751	chr7:4286914-4286915	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114307078	chr7:4286929-4286930	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553895662	chr7:4286944-4286945	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12701504	chr7:4286966-4286967	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542622942	chr7:4286968-4286969	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138531621	chr7:4287018-4287019	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575955467	chr7:4287031-4287032	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141125698	chr7:4287037-4287038	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564918389	chr7:4287045-4287046	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150381555	chr7:4287049-4287050	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78880160	chr7:4287076-4287077	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560971387	chr7:4287078-4287079	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369227198	chr7:4287086-4287087	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4723527	chr7:4287120-4287121	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188133557	chr7:4287126-4287127	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs180935629	chr7:4287130-4287131	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs593851	chr7:4287148-4287149	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552090590	chr7:4287154-4287155	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187088795	chr7:4287155-4287156	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149518533	chr7:4287156-4287157	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377484293	chr7:4287172-4287173	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553808711	chr7:4287191-4287192	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567437392	chr7:4287198-4287199	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117407503	chr7:4287202-4287203	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556117773	chr7:4287210-4287211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147186397	chr7:4287213-4287214	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558861704	chr7:4287230-4287231	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192426189	chr7:4287246-4287247	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs541241234	chr7:4287247-4287248	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4723528	chr7:4287251-4287252	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140024903	chr7:4287277-4287278	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183377553	chr7:4287279-4287280	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187150896	chr7:4287296-4287297	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532179255	chr7:4287318-4287319	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551740361	chr7:4287321-4287322	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190504102	chr7:4287370-4287371	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527847203	chr7:4287385-4287386	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547606178	chr7:4287386-4287387	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4235800-4287200	Weak transcription	Gastric	stomach
2	chr7:4268000-4291800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:4275600-4287800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:4276600-4288600	Strong transcription	Aorta	Aorta
5	chr7:4278400-4287600	Weak transcription	Fetal Heart	heart
6	chr7:4278400-4296000	Weak transcription	Brain Germinal Matrix	brain
7	chr7:4280800-4287800	Weak transcription	Fetal Kidney	kidney
8	chr7:4282000-4288600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:4283200-4288400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:4283600-4287600	ZNF genes & repeats	Spleen	Spleen
11	chr7:4283600-4288000	Weak transcription	Fetal Brain Male	brain
12	chr7:4284400-4288000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:4284400-4290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:4284600-4286800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:4284600-4287400	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:4284600-4288800	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:4284800-4287800	Weak transcription	Adipose Nuclei	Adipose
18	chr7:4285000-4287600	Weak transcription	Fetal Intestine Small	intestine
19	chr7:4285000-4291200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:4285200-4287800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:4285200-4290200	Weak transcription	Right Ventricle	heart
22	chr7:4285400-4287600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:4285600-4301200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:4285800-4287200	Weak transcription	Pancreas	Pancrea
25	chr7:4285800-4291000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:4286000-4287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:4286000-4287200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:4286000-4287800	Weak transcription	Fetal Brain Female	brain
29	chr7:4286200-4287200	Enhancers	Fetal Lung	lung
30	chr7:4286200-4290800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:4286400-4287000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:4286400-4287200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:4286600-4287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:4286600-4287800	Enhancers	Fetal Stomach	stomach
35	chr7:4287000-4287200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr7:4287000-4287200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:4287200-4287600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:4287200-4287600	Enhancers	Gastric	stomach
39	chr7:4287200-4287800	Weak transcription	Fetal Lung	lung
40	chr7:4287200-4289200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:4287200-4289200	Strong transcription	Pancreas	Pancrea
42	chr7:4287400-4287600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:4287600-4288000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:4287600-4288600	Strong transcription	Fetal Heart	heart
45	chr7:4287600-4289600	Weak transcription	Spleen	Spleen
46	chr7:4287600-4304200	Weak transcription	Gastric	stomach
47	chr7:4287800-4288400	Strong transcription	Adipose Nuclei	Adipose
48	chr7:4287800-4288600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:4287800-4288600	Strong transcription	Fetal Brain Female	brain
50	chr7:4287800-4288600	ZNF genes & repeats	Fetal Kidney	kidney

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