Variant report

Variant	esv3478332
Chromosome Location	chr7:150996620-150997149
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	chr7:150922690..150925325-chr7:150996570..150998128,2	K562	blood:
2	chr7:150984426..150986306-chr7:150996451..150998934,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033050	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567535565	chr7:150996642-150996643	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182929962	chr7:150996651-150996652	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112645508	chr7:150996655-150996656	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556427449	chr7:150996660-150996661	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570045006	chr7:150996676-150996677	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535469211	chr7:150996683-150996684	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555690104	chr7:150996684-150996685	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73482747	chr7:150996692-150996693	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371267823	chr7:150996693-150996694	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111204716	chr7:150996707-150996708	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572350251	chr7:150996723-150996724	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372132949	chr7:150996724-150996725	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28651955	chr7:150996739-150996740	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111066489	chr7:150996757-150996758	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9767880	chr7:150996758-150996759	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9769613	chr7:150996764-150996765	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543670144	chr7:150996765-150996766	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563571313	chr7:150996798-150996799	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372803063	chr7:150996813-150996814	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376457632	chr7:150996814-150996815	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201632530	chr7:150996823-150996824	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536460120	chr7:150996841-150996842	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528098785	chr7:150996845-150996846	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551423768	chr7:150996849-150996850	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371898380	chr7:150996852-150996853	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571046186	chr7:150996856-150996857	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533331084	chr7:150996881-150996882	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549999141	chr7:150996887-150996888	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368208109	chr7:150996899-150996900	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566320206	chr7:150996930-150996931	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536097247	chr7:150996961-150996962	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113849457	chr7:150996969-150996970	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566029496	chr7:150996974-150996975	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576657870	chr7:150996990-150996991	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534737843	chr7:150997005-150997006	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538750107	chr7:150997022-150997023	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs72396049	chr7:150997030-150997031	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372392744	chr7:150997039-150997040	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558268508	chr7:150997040-150997041	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs578173278	chr7:150997044-150997045	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200562038	chr7:150997047-150997048	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537240217	chr7:150997048-150997049	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557145003	chr7:150997055-150997056	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111252826	chr7:150997081-150997082	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187671959	chr7:150997107-150997108	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542871184	chr7:150997114-150997115	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559408782	chr7:150997116-150997117	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1860117	chr7:150997137-150997138	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544636931	chr7:150997141-150997142	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150994000-151000400	Weak transcription	Right Atrium	heart
2	chr7:150996600-150996800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
3	chr7:150996600-150997000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:150996600-150997000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:150996600-150997000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
6	chr7:150996600-150997000	Enhancers	Gastric	stomach
7	chr7:150996600-150997200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:150996600-150997200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:150996600-150997200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr7:150996600-150997200	ZNF genes & repeats	Fetal Kidney	kidney
11	chr7:150996600-150997200	Bivalent/Poised TSS	Fetal Lung	lung
12	chr7:150996600-150997400	ZNF genes & repeats	Pancreas	Pancrea
13	chr7:150996800-150997000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr7:150996800-150997200	Bivalent Enhancer	Fetal Brain Male	brain
15	chr7:150997000-150997200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:150997000-151002000	Weak transcription	Gastric	stomach

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