Variant report

Variant	esv3517126
Chromosome Location	chr17:67343157-67349955
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	chr17:67348498..67350419-chr17:67353401..67355249,2	MCF-7	breast:
2	chr17:67344633..67346534-chr17:67349656..67352569,2	K562	blood:

Variant related genes	Relation type
ENSG00000252352	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140900011	chr17:67343166-67343167	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs386798716	chr17:67343168-67343169	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs372743662	chr17:67343178-67343179	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534246542	chr17:67343181-67343182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373774416	chr17:67343183-67343184	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs386798717	chr17:67343188-67343189	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112464803	chr17:67343190-67343191	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs555470103	chr17:67343197-67343198	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574115336	chr17:67343227-67343228	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs183730838	chr17:67343252-67343253	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112306649	chr17:67343293-67343294	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs114235085	chr17:67343295-67343296	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs145148089	chr17:67343314-67343315	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189313658	chr17:67343326-67343327	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs147175600	chr17:67343327-67343328	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369692021	chr17:67343433-67343434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540262949	chr17:67343462-67343463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140378944	chr17:67343480-67343481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528852931	chr17:67343516-67343517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544341439	chr17:67343528-67343529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537971393	chr17:67343538-67343539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199901295	chr17:67343562-67343563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144252713	chr17:67343580-67343581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs517988	chr17:67343619-67343620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9914808	chr17:67343634-67343635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs471920	chr17:67343661-67343662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527966124	chr17:67343752-67343753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376028217	chr17:67343788-67343789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549388952	chr17:67343793-67343794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7224786	chr17:67343799-67343800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537810739	chr17:67343807-67343808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556246380	chr17:67343808-67343809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376440419	chr17:67343830-67343831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571359550	chr17:67343842-67343843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539293156	chr17:67343860-67343861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117463276	chr17:67343861-67343862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573125706	chr17:67343866-67343867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7208773	chr17:67343873-67343874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180945753	chr17:67343886-67343887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536408510	chr17:67343894-67343895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573689043	chr17:67343902-67343903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554809183	chr17:67343949-67343950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185487553	chr17:67343961-67343962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190411914	chr17:67344004-67344005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545654307	chr17:67344060-67344061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560500699	chr17:67344074-67344075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543970711	chr17:67344084-67344085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370517888	chr17:67344106-67344107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527854499	chr17:67344115-67344116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373923728	chr17:67344118-67344119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD
Basal cell lymphoma	17053054	CNVD
Acute monocytic leukemia	16498392	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67339400-67355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:67342600-67343400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr17:67342800-67343400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr17:67343000-67343200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:67343000-67343400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr17:67343200-67343400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:67343400-67344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr17:67343400-67346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr17:67344000-67345400	Enhancers	Fetal Intestine Large	intestine
10	chr17:67344800-67345200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr17:67344800-67345200	Enhancers	Hela-S3	cervix
12	chr17:67345000-67345400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:67345200-67346200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr17:67345400-67349400	Weak transcription	Fetal Intestine Large	intestine
15	chr17:67346200-67347400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr17:67346200-67347400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr17:67346800-67347400	Enhancers	Psoas Muscle	Psoas
18	chr17:67347400-67352800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr17:67349400-67349600	Enhancers	Fetal Intestine Small	intestine
20	chr17:67349400-67349800	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links