Variant report

Variant	esv1793003
Chromosome Location	chr7:7902171-7911371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7900050..7902879-chr7:7904701..7906476,3	K562	blood:
2	chr7:7908600..7910763-chr7:7934050..7936742,2	K562	blood:
3	chr7:7866665..7868204-chr7:7899754..7902407,2	MCF-7	breast:
4	chr7:7908747..7911245-chr7:7915416..7917083,2	MCF-7	breast:
5	chr7:7896335..7897890-chr7:7900322..7902717,2	MCF-7	breast:
6	chr7:7900013..7901798-chr7:7910728..7913305,2	MCF-7	breast:
7	chr7:7904713..7906723-chr7:7911764..7914696,2	K562	blood:
8	chr7:7900050..7902879-chr7:7904701..7906476,3	K562	blood:

Extended variants
information (count: 411 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6463730	chr7:7902171-7902172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6972172	chr7:7902214-7902215	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561773612	chr7:7902236-7902237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73061204	chr7:7902242-7902243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547507851	chr7:7902244-7902245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78580561	chr7:7902254-7902255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73061208	chr7:7902258-7902259	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115943357	chr7:7902282-7902283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147569880	chr7:7902311-7902312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117221289	chr7:7902314-7902315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536811394	chr7:7902320-7902321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555147238	chr7:7902325-7902326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6976317	chr7:7902349-7902350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140690320	chr7:7902352-7902353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149658234	chr7:7902363-7902364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17562004	chr7:7902369-7902370	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572322016	chr7:7902370-7902371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539856518	chr7:7902400-7902401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558451195	chr7:7902406-7902407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539777008	chr7:7902448-7902449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373009893	chr7:7902461-7902462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544172255	chr7:7902480-7902481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562130512	chr7:7902492-7902493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574208701	chr7:7902516-7902517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540749944	chr7:7902517-7902518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7795244	chr7:7902588-7902589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149006477	chr7:7902650-7902651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532734705	chr7:7902667-7902668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7808919	chr7:7902687-7902688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs371718029	chr7:7902710-7902711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145525855	chr7:7902718-7902719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530713198	chr7:7902720-7902721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549912449	chr7:7902789-7902790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548907354	chr7:7902793-7902794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567333755	chr7:7902861-7902862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35274500	chr7:7902876-7902877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13233755	chr7:7902877-7902878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6463731	chr7:7902895-7902896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs558178540	chr7:7902953-7902954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567139645	chr7:7902979-7902980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576543903	chr7:7903001-7903002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115806323	chr7:7903016-7903017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542210843	chr7:7903023-7903024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556056710	chr7:7903035-7903036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6463732	chr7:7903058-7903059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs78954189	chr7:7903067-7903068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559145979	chr7:7903073-7903074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6463733	chr7:7903077-7903078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544751921	chr7:7903086-7903087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562937300	chr7:7903119-7903120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7892200-7906800	Weak transcription	Fetal Heart	heart
2	chr7:7895400-7906400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:7895400-7907000	Weak transcription	Thymus	Thymus
4	chr7:7895400-7908800	Weak transcription	Left Ventricle	heart
5	chr7:7895400-7918000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:7895800-7902600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:7896000-7907600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:7897200-7909000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:7897200-7923200	Weak transcription	Psoas Muscle	Psoas
10	chr7:7897200-7942400	Weak transcription	Aorta	Aorta
11	chr7:7898400-7907200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:7899000-7907000	Weak transcription	Primary B cells from cord blood	blood
13	chr7:7900400-7902400	Enhancers	Hela-S3	cervix
14	chr7:7900400-7904200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:7900600-7902200	Enhancers	NH-A	brain
16	chr7:7900600-7902400	Enhancers	HMEC	breast
17	chr7:7900600-7903200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:7901200-7915600	Weak transcription	Gastric	stomach
19	chr7:7901400-7903600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:7902200-7902400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:7902400-7903200	Weak transcription	HMEC	breast
22	chr7:7902600-7903800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:7902800-7903400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:7902800-7903600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:7903000-7903600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:7903000-7903600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:7903200-7903600	Enhancers	Brain Germinal Matrix	brain
28	chr7:7903200-7904000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:7903200-7904200	Enhancers	HMEC	breast
30	chr7:7903400-7903600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:7903600-7904200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:7903600-7907200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:7903600-7907400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:7903600-7908000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:7903800-7907400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:7904000-7904600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:7904800-7905200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:7905200-7906000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:7905200-7907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:7905400-7905600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:7906000-7907200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:7906000-7907800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:7906200-7907400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:7906400-7906600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr7:7906400-7907200	Enhancers	Primary hematopoietic stem cells	blood
46	chr7:7906400-7907400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:7906600-7907200	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:7906600-7908600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:7906600-7909000	Enhancers	Brain Substantia Nigra	brain
50	chr7:7906800-7907200	Enhancers	Fetal Heart	heart

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