Variant report

Variant	nsv1025196
Chromosome Location	chr7:145939066-145977303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
2	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
3	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:

Extended variants
information (count: 1338 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1338 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531077091	chr7:145939071-145939072	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181944437	chr7:145939083-145939084	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs186564544	chr7:145939225-145939226	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535886719	chr7:145939233-145939234	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190618656	chr7:145939306-145939307	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147680567	chr7:145939328-145939329	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535161437	chr7:145939350-145939351	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138628458	chr7:145939357-145939358	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183131345	chr7:145939358-145939359	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528218702	chr7:145939361-145939362	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539381757	chr7:145939371-145939372	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202012526	chr7:145939377-145939378	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549957457	chr7:145939403-145939404	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187576538	chr7:145939457-145939458	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577464331	chr7:145939459-145939460	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538471134	chr7:145939515-145939516	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556781286	chr7:145939518-145939519	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191073328	chr7:145939523-145939524	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183286827	chr7:145939524-145939525	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554190906	chr7:145939527-145939528	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572358180	chr7:145939557-145939558	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546167739	chr7:145939560-145939561	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564269529	chr7:145939575-145939576	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79471367	chr7:145939599-145939600	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372548217	chr7:145939617-145939618	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569376172	chr7:145939629-145939630	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200094549	chr7:145939630-145939631	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531480101	chr7:145939641-145939642	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187464105	chr7:145939689-145939690	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192801182	chr7:145939708-145939709	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529023136	chr7:145939710-145939711	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112958769	chr7:145939768-145939769	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547102170	chr7:145939807-145939808	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547645952	chr7:145939845-145939846	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2693291	chr7:145939928-145939929	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6948325	chr7:145939944-145939945	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs536232634	chr7:145940049-145940050	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs546565484	chr7:145940118-145940119	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs200331032	chr7:145940157-145940158	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs141803056	chr7:145940158-145940159	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs571093753	chr7:145940159-145940160	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs112276511	chr7:145940160-145940161	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs68149207	chr7:145940161-145940162	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs10690057	chr7:145940162-145940163	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs78639108	chr7:145940163-145940164	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs538555180	chr7:145940253-145940254	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115530930	chr7:145940272-145940273	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568674744	chr7:145940387-145940388	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79271109	chr7:145940515-145940516	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs34948064	chr7:145940534-145940535	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:142 , 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	chr7:145936600-145941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:145937200-145939400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:145938400-145939200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:145938400-145941200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:145938600-145939200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:145938600-145939800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:145938600-145940000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:145938600-145940400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:145938800-145939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:145939000-145939600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:145939200-145941000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
15	chr7:145939200-145941800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:145939200-145942600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:145939400-145941000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:145939600-145941600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
19	chr7:145939800-145940200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr7:145939800-145940600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
21	chr7:145940000-145942400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:145940200-145940400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:145940400-145941800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr7:145940400-145942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:145940600-145941400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:145941000-145941600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:145941000-145946000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:145941200-145946200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr7:145941400-145941600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
30	chr7:145941400-145941800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:145941600-145942200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:145941600-145942600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:145941600-145942600	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:145941800-145942600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:145941800-145942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:145941800-145943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:145942200-145942400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:145942400-145942600	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr7:145942400-145943200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
40	chr7:145942600-145942800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr7:145942600-145942800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:145942600-145943000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
43	chr7:145942600-145943200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
44	chr7:145942600-145944400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
45	chr7:145942600-145946000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:145942600-145946200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:145942600-145946400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr7:145942600-145946400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:145942800-145946200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr7:145942800-145946400	Active TSS	H1 Cell Line	embryonic stem cell

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