Variant report

Variant	nsv970440
Chromosome Location	chr7:5762947-5773677
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	chr7:5762353..5764128-chr7:5819722..5822016,2	MCF-7	breast:
2	chr7:5748877..5750646-chr7:5760889..5763281,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011275	chromatin interactions

Extended variants
information (count: 568 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192943204	chr7:5762966-5762967	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370727623	chr7:5762971-5762972	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116768517	chr7:5763001-5763002	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557865347	chr7:5763002-5763003	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142165156	chr7:5763004-5763005	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536632882	chr7:5763008-5763009	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555683716	chr7:5763045-5763046	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373889912	chr7:5763049-5763050	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536582721	chr7:5763061-5763062	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527978440	chr7:5763090-5763091	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146383694	chr7:5763134-5763135	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376245816	chr7:5763140-5763141	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148587513	chr7:5763145-5763146	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542053451	chr7:5763146-5763147	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563521972	chr7:5763147-5763148	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142745235	chr7:5763149-5763150	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563430477	chr7:5763170-5763171	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183511254	chr7:5763201-5763202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187291077	chr7:5763207-5763208	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561635328	chr7:5763210-5763211	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528745208	chr7:5763222-5763223	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191692056	chr7:5763256-5763257	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375994806	chr7:5763273-5763274	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539221254	chr7:5763276-5763277	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549446984	chr7:5763282-5763283	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567630421	chr7:5763286-5763287	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533996144	chr7:5763287-5763288	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569767913	chr7:5763290-5763291	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558649042	chr7:5763294-5763295	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183953842	chr7:5763304-5763305	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555024685	chr7:5763327-5763328	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188331014	chr7:5763349-5763350	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567569078	chr7:5763353-5763354	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192534445	chr7:5763362-5763363	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552830436	chr7:5763364-5763365	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4720637	chr7:5763369-5763370	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139765303	chr7:5763374-5763375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4720638	chr7:5763376-5763377	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368418624	chr7:5763389-5763390	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575608673	chr7:5763398-5763399	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114886123	chr7:5763404-5763405	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561096083	chr7:5763423-5763424	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531158541	chr7:5763428-5763429	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375382714	chr7:5763448-5763449	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528466469	chr7:5763489-5763490	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540963300	chr7:5763529-5763530	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565568780	chr7:5763533-5763534	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369184855	chr7:5763557-5763558	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574674246	chr7:5763569-5763570	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552827037	chr7:5763591-5763592	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:5737400-5767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:5737600-5774200	Strong transcription	Dnd41	blood
4	chr7:5739600-5769600	Strong transcription	Fetal Intestine Large	intestine
5	chr7:5741200-5763600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:5744200-5766600	Weak transcription	Stomach Mucosa	stomach
7	chr7:5744200-5769400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:5744600-5764000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:5744600-5769400	Strong transcription	Primary T cells from cord blood	blood
10	chr7:5744600-5769600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr7:5744800-5769200	Strong transcription	Fetal Muscle Leg	muscle
12	chr7:5744800-5769600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:5745000-5769200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:5745000-5769800	Strong transcription	Liver	Liver
15	chr7:5746000-5763000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:5746000-5769600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr7:5746000-5770400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:5746000-5771200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:5747400-5769200	Strong transcription	Fetal Stomach	stomach
20	chr7:5747400-5769400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:5747400-5769600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:5747600-5769600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr7:5748200-5769600	Strong transcription	A549	lung
24	chr7:5749200-5769800	Strong transcription	Adipose Nuclei	Adipose
25	chr7:5749800-5769200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr7:5751800-5764400	Weak transcription	Psoas Muscle	Psoas
27	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:5754000-5769200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:5755000-5764800	Weak transcription	Gastric	stomach
30	chr7:5755000-5767800	Weak transcription	Colonic Mucosa	Colon
31	chr7:5755000-5780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:5756400-5764400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:5757000-5769400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:5757000-5769800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:5758400-5768400	Strong transcription	Left Ventricle	heart
36	chr7:5758400-5769200	Strong transcription	Thymus	Thymus
37	chr7:5758400-5770200	Strong transcription	Fetal Thymus	thymus
38	chr7:5758600-5769000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:5758800-5765200	Strong transcription	Brain Anterior Caudate	brain
40	chr7:5758800-5765200	Strong transcription	HSMM	muscle
41	chr7:5758800-5765600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:5758800-5765800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr7:5758800-5767200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:5758800-5769000	Strong transcription	Brain Angular Gyrus	brain
45	chr7:5758800-5769200	Strong transcription	Osteobl	bone
46	chr7:5758800-5769600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:5758800-5769600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:5758800-5769800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:5758800-5769800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:5758800-5770000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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