Variant report

Variant	esv3364789
Chromosome Location	chr1:168803428-168805376
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	chr1:168800645..168803136-chr1:168805186..168807347,2	K562	blood:
2	chr1:168803305..168804821-chr1:168806997..168808555,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554581115	chr1:168803433-168803434	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs557548615	chr1:168803479-168803480	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575826417	chr1:168803508-168803509	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546554100	chr1:168803516-168803517	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12239491	chr1:168803522-168803523	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115012763	chr1:168803529-168803530	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372454237	chr1:168803566-168803567	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12075363	chr1:168803578-168803579	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562001761	chr1:168803678-168803679	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529405391	chr1:168803684-168803685	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548055231	chr1:168803702-168803703	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563528788	chr1:168803716-168803717	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530702775	chr1:168803784-168803785	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552096326	chr1:168803789-168803790	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570415475	chr1:168803800-168803801	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534277827	chr1:168803836-168803837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555280234	chr1:168803890-168803891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80155189	chr1:168803901-168803902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568034000	chr1:168803919-168803920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572004784	chr1:168803925-168803926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535565584	chr1:168803979-168803980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540258189	chr1:168804000-168804001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557255917	chr1:168804015-168804016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575835353	chr1:168804039-168804040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188416504	chr1:168804050-168804051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553734758	chr1:168804152-168804153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540134148	chr1:168804193-168804194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538671533	chr1:168804205-168804206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201090647	chr1:168804209-168804210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2206294	chr1:168804211-168804212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573590066	chr1:168804222-168804223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540600484	chr1:168804243-168804244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148726224	chr1:168804273-168804274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192493685	chr1:168804284-168804285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75068864	chr1:168804299-168804300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185107688	chr1:168804330-168804331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552600262	chr1:168804368-168804369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111955283	chr1:168804384-168804385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111400283	chr1:168804428-168804429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373426091	chr1:168804434-168804435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551961549	chr1:168804438-168804439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74121401	chr1:168804614-168804615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528391648	chr1:168804630-168804631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61801631	chr1:168804660-168804661	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574197484	chr1:168804670-168804671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75238407	chr1:168804683-168804684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550698549	chr1:168804705-168804706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186709011	chr1:168804797-168804798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539999600	chr1:168804798-168804799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139630652	chr1:168804817-168804818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168799200-168804000	Enhancers	Fetal Intestine Small	intestine
2	chr1:168799200-168804000	Enhancers	Stomach Mucosa	stomach
3	chr1:168800200-168804000	Enhancers	Fetal Intestine Large	intestine
4	chr1:168801600-168803800	Enhancers	Left Ventricle	heart
5	chr1:168801600-168804200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:168801800-168803800	Enhancers	Right Ventricle	heart
7	chr1:168801800-168806000	Enhancers	Fetal Heart	heart
8	chr1:168802600-168803600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:168802600-168803800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:168802600-168803800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:168802600-168803800	Enhancers	Fetal Muscle Leg	muscle
12	chr1:168802600-168803800	Enhancers	Pancreas	Pancrea
13	chr1:168802600-168804000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:168802600-168804000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:168802600-168804000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:168802800-168803600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:168802800-168803800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:168802800-168803800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:168802800-168803800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:168802800-168803800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:168802800-168803800	Enhancers	Colonic Mucosa	Colon
22	chr1:168802800-168803800	Enhancers	Fetal Thymus	thymus
23	chr1:168802800-168803800	Enhancers	Small Intestine	intestine
24	chr1:168802800-168803800	Enhancers	Dnd41	blood
25	chr1:168802800-168803800	Flanking Active TSS	HepG2	liver
26	chr1:168802800-168804000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:168802800-168804000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:168802800-168804000	Enhancers	Fetal Lung	lung
29	chr1:168802800-168805800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:168803000-168803800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:168803000-168803800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:168803000-168803800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:168803000-168803800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:168803000-168803800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr1:168803000-168803800	Enhancers	Fetal Stomach	stomach
36	chr1:168803000-168803800	Enhancers	Right Atrium	heart
37	chr1:168803000-168803800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr1:168803000-168804000	Enhancers	Ovary	ovary
39	chr1:168803000-168804000	Enhancers	A549	lung
40	chr1:168803200-168803600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:168803200-168803800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:168803200-168803800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:168803200-168803800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:168803200-168804000	Enhancers	Primary T cells from cord blood	blood
45	chr1:168803200-168804000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:168803200-168804000	Enhancers	Liver	Liver
47	chr1:168803200-168804000	Enhancers	Fetal Kidney	kidney
48	chr1:168803800-168804000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr1:168803800-168804800	Weak transcription	Small Intestine	intestine
50	chr1:168803800-168805000	Weak transcription	Right Atrium	heart

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