Variant report

Variant	esv3358075
Chromosome Location	chr7:4285826-4290624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4280752..4283162-chr7:4283913..4286565,5	MCF-7	breast:
2	chr7:4266434..4268284-chr7:4284245..4288090,3	MCF-7	breast:
3	chr7:4285802..4287439-chr7:4291050..4292753,2	MCF-7	breast:
4	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
5	chr7:4281480..4283823-chr7:4284575..4286412,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146555	chromatin interactions

Extended variants
information (count: 281 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557608626	chr7:4285852-4285853	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11979013	chr7:4285855-4285856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572376339	chr7:4285860-4285861	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533556908	chr7:4285893-4285894	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139957950	chr7:4285958-4285959	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549636513	chr7:4285965-4285966	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145396065	chr7:4285981-4285982	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370199539	chr7:4285983-4285984	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570194381	chr7:4286007-4286008	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147665789	chr7:4286032-4286033	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531331924	chr7:4286033-4286034	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192859552	chr7:4286037-4286038	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139672159	chr7:4286078-4286079	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549746361	chr7:4286123-4286124	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575947005	chr7:4286126-4286127	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149853248	chr7:4286130-4286131	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564424777	chr7:4286142-4286143	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145852097	chr7:4286143-4286144	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568002761	chr7:4286145-4286146	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148985476	chr7:4286157-4286158	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185426442	chr7:4286200-4286201	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553736456	chr7:4286227-4286228	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373912963	chr7:4286268-4286269	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531448634	chr7:4286271-4286272	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551409555	chr7:4286289-4286290	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189535287	chr7:4286297-4286298	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10487575	chr7:4286302-4286303	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs375983355	chr7:4286304-4286305	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370391463	chr7:4286311-4286312	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143755641	chr7:4286353-4286354	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567300399	chr7:4286388-4286389	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146462931	chr7:4286409-4286410	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556139074	chr7:4286411-4286412	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575858676	chr7:4286455-4286456	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114364177	chr7:4286457-4286458	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561240789	chr7:4286462-4286463	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs929374	chr7:4286501-4286502	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs577415042	chr7:4286512-4286513	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs578048537	chr7:4286515-4286516	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs929373	chr7:4286516-4286517	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140900646	chr7:4286547-4286548	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573737163	chr7:4286555-4286556	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542510017	chr7:4286582-4286583	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs929372	chr7:4286597-4286598	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs117755273	chr7:4286616-4286617	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs74396840	chr7:4286646-4286647	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547403222	chr7:4286702-4286703	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144626816	chr7:4286709-4286710	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527376589	chr7:4286725-4286726	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547505858	chr7:4286728-4286729	Weak transcription Strong transcription Enhancers ZNF genes & repeats	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:97 , 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	chr7:4283800-4286200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr7:4284000-4286200	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:4284000-4286200	Weak transcription	Fetal Lung	lung
15	chr7:4284400-4286000	Strong transcription	Fetal Brain Female	brain
16	chr7:4284400-4288000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:4284400-4290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:4284600-4286400	Weak transcription	Fetal Intestine Large	intestine
19	chr7:4284600-4286800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:4284600-4287400	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:4284600-4288800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:4284800-4286000	Enhancers	Placenta	Placenta
23	chr7:4284800-4286400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:4284800-4287800	Weak transcription	Adipose Nuclei	Adipose
25	chr7:4285000-4286000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr7:4285000-4286400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:4285000-4287600	Weak transcription	Fetal Intestine Small	intestine
28	chr7:4285000-4291200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:4285200-4286000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:4285200-4286000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:4285200-4286400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:4285200-4286400	Strong transcription	Fetal Stomach	stomach
33	chr7:4285200-4287800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:4285200-4290200	Weak transcription	Right Ventricle	heart
35	chr7:4285400-4286000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:4285400-4286000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:4285400-4287600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:4285600-4286000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr7:4285600-4301200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:4285800-4286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:4285800-4287200	Weak transcription	Pancreas	Pancrea
42	chr7:4285800-4291000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:4286000-4286200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:4286000-4287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:4286000-4287200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:4286000-4287800	Weak transcription	Fetal Brain Female	brain
47	chr7:4286200-4286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:4286200-4287200	Enhancers	Fetal Lung	lung
49	chr7:4286200-4290800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:4286400-4286600	Genic enhancers	Fetal Stomach	stomach

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