Variant report

Variant	esv2755504
Chromosome Location	chr7:19462953-19555118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
2	chr7:19161356..19162289-chr7:19481424..19482541,6	MCF-7	breast:
3	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
4	chr7:19552748..19555589-chr7:19559461..19562039,2	K562	blood:

Extended variants
information (count: 1978 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1978 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2892930	chr7:19462953-19462954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546252227	chr7:19462968-19462969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545980086	chr7:19462971-19462972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562033783	chr7:19462985-19462986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529136972	chr7:19463105-19463106	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562654105	chr7:19463107-19463108	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75479198	chr7:19463124-19463125	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537192214	chr7:19463143-19463144	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371393306	chr7:19463152-19463153	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185990023	chr7:19463170-19463171	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570537164	chr7:19463192-19463193	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535036954	chr7:19463229-19463230	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4286843	chr7:19463247-19463248	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149375242	chr7:19463334-19463335	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115460369	chr7:19463410-19463411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113639522	chr7:19463423-19463424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191132472	chr7:19463446-19463447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367716917	chr7:19463504-19463505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17141298	chr7:19463507-19463508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10253664	chr7:19463509-19463510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527661751	chr7:19463511-19463512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540234369	chr7:19463536-19463537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6965258	chr7:19463556-19463557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529237026	chr7:19463579-19463580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148115070	chr7:19463583-19463584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371719605	chr7:19463603-19463604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562374369	chr7:19463614-19463615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373970882	chr7:19463645-19463646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183444077	chr7:19463660-19463661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187433216	chr7:19463665-19463666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566748242	chr7:19463678-19463679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539702532	chr7:19463687-19463688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551131247	chr7:19463697-19463698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570625586	chr7:19463719-19463720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192725431	chr7:19463731-19463732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183262215	chr7:19463738-19463739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568359970	chr7:19463747-19463748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558738491	chr7:19463764-19463765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544562177	chr7:19463777-19463778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536185947	chr7:19463851-19463852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372743839	chr7:19463915-19463916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557665167	chr7:19463933-19463934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372727197	chr7:19463943-19463944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3138826	chr7:19463944-19463945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs3220232	chr7:19463946-19463947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140093954	chr7:19463950-19463951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6948067	chr7:19463951-19463952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146459551	chr7:19463953-19463954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372683779	chr7:19463955-19463956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11283616	chr7:19463956-19463957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19462200-19463000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:19462200-19467200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:19462200-19467400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:19462200-19467400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:19462200-19467400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:19462400-19467200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:19462800-19463600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:19462800-19463600	Enhancers	NHDF-Ad	bronchial
9	chr7:19462800-19464400	Enhancers	Adipose Nuclei	Adipose
10	chr7:19463000-19463400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:19463400-19465200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:19463400-19465400	Enhancers	Fetal Stomach	stomach
13	chr7:19463800-19465400	Enhancers	Fetal Heart	heart
14	chr7:19464000-19464400	Enhancers	Fetal Lung	lung
15	chr7:19467000-19468000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr7:19467200-19468000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:19467200-19468000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:19467200-19468200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:19467400-19467800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:19467400-19468000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:19467400-19468000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:19467400-19468000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:19467400-19468000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:19467400-19468200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:19467600-19468000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:19473200-19473600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:19473600-19478800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:19477000-19477600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:19477200-19477400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:19477400-19478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:19478800-19479200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:19478800-19479800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:19478800-19480000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:19478800-19480200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:19479000-19479400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:19479000-19479400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:19479000-19479400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:19479000-19480800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:19479000-19481000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:19479200-19479600	Enhancers	Primary hematopoietic stem cells	blood
41	chr7:19479200-19480400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:19479400-19481400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:19479600-19480600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:19479600-19482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:19480400-19481600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:19480600-19480800	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:19481400-19482000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:19481600-19481800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:19481600-19482000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:19481600-19482200	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links