Variant report

Variant	nsv1015596
Chromosome Location	chr7:145942590-145992294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
2	chr5:40835299..40835996-chr7:145980649..145981149,2	Hela-S3	cervix:
3	chr7:145988038..145989736-chr7:145992431..145994390,2	MCF-7	breast:
4	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:

Variant related genes	Relation type
ENSG00000145592	chromatin interactions

Extended variants
information (count: 1571 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1571 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2693300	chr7:145942597-145942598	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs386718974	chr7:145942610-145942611	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539836031	chr7:145942620-145942621	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560025319	chr7:145942622-145942623	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143014079	chr7:145942631-145942632	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529949135	chr7:145942634-145942635	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113982394	chr7:145942657-145942658	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545264814	chr7:145942671-145942672	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563564401	chr7:145942694-145942695	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186365253	chr7:145942708-145942709	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549075116	chr7:145942727-145942728	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567646181	chr7:145942728-145942729	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528532879	chr7:145942729-145942730	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2693298	chr7:145942732-145942733	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571551195	chr7:145942752-145942753	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538949516	chr7:145942767-145942768	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569324209	chr7:145942777-145942778	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557263179	chr7:145942802-145942803	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569074188	chr7:145942807-145942808	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536408389	chr7:145942827-145942828	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2539742	chr7:145942831-145942832	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572831619	chr7:145942832-145942833	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540261216	chr7:145942842-145942843	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558285728	chr7:145942844-145942845	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576746316	chr7:145942846-145942847	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558209701	chr7:145942857-145942858	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2539743	chr7:145942859-145942860	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145612058	chr7:145942877-145942878	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138132679	chr7:145942887-145942888	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542811081	chr7:145942908-145942909	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561460759	chr7:145942909-145942910	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528561552	chr7:145942930-145942931	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547035736	chr7:145942951-145942952	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs571573274	chr7:145942968-145942969	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532500596	chr7:145942982-145942983	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs550902690	chr7:145942983-145942984	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs569160174	chr7:145943015-145943016	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541058227	chr7:145943018-145943019	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs536494956	chr7:145943024-145943025	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190899939	chr7:145943025-145943026	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200625409	chr7:145943031-145943032	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535211668	chr7:145943032-145943033	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553340318	chr7:145943034-145943035	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533673638	chr7:145943067-145943068	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs558577295	chr7:145943068-145943069	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181991542	chr7:145943069-145943070	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537438252	chr7:145943085-145943086	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557279089	chr7:145943096-145943097	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs10282128	chr7:145943118-145943119	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs185908839	chr7:145943165-145943166	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145912600-145945200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:145918800-145942600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:145922800-145943600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:145939200-145942600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:145940400-145942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:145941000-145946000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:145941200-145946200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:145941600-145942600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:145941600-145942600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:145941800-145942600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:145941800-145942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:145941800-145943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:145942400-145942600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:145942400-145943200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
15	chr7:145942600-145942800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:145942600-145942800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:145942600-145943000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
18	chr7:145942600-145943200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
19	chr7:145942600-145944400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
20	chr7:145942600-145946000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:145942600-145946200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:145942600-145946400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:145942600-145946400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:145942800-145946200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:145942800-145946400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr7:145943000-145946600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr7:145943200-145946400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr7:145943200-145946600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:145943600-145946000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:145943800-145946600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:145944200-145946000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:145944400-145946400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:145945000-145945400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:145945000-145945600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:145945000-145945800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:145945000-145946000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:145945200-145946000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr7:145945200-145946000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:145945200-145946000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:145945400-145945800	Active TSS	Fetal Muscle Trunk	muscle
41	chr7:145945400-145946000	Active TSS	Fetal Kidney	kidney
42	chr7:145945600-145945800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr7:145945600-145946000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:145946000-145946200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:145946000-145946200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:145946000-145946600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:145946000-145948800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:145946000-145956000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr7:145946200-145946600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr7:145946200-145947400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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