Variant report

Variant	esv3527308
Chromosome Location	chr1:212079479-212082377
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	chr1:212081479..212083275-chr1:212101212..212103097,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS7-2	chr1:212080694-212080795	NONHSAT009337

Extended variants
information (count: 112 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183440267	chr1:212079483-212079484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372607063	chr1:212079501-212079502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77216275	chr1:212079527-212079528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561937327	chr1:212079576-212079577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78372405	chr1:212079585-212079586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200225700	chr1:212079593-212079594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574083482	chr1:212079610-212079611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12753835	chr1:212079635-212079636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142584893	chr1:212079644-212079645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12757921	chr1:212079661-212079662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145989413	chr1:212079673-212079674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574024930	chr1:212079705-212079706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551930458	chr1:212079710-212079711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12753973	chr1:212079724-212079725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12753984	chr1:212079745-212079746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12758087	chr1:212079751-212079752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7540019	chr1:212079778-212079779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs12754006	chr1:212079791-212079792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12733098	chr1:212079794-212079795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12733100	chr1:212079803-212079804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187782725	chr1:212079814-212079815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78715847	chr1:212079855-212079856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139989104	chr1:212079870-212079871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191437307	chr1:212079884-212079885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141825368	chr1:212079894-212079895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546222921	chr1:212079918-212079919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571185976	chr1:212079995-212079996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538576890	chr1:212080088-212080089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150730385	chr1:212080108-212080109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182125291	chr1:212080111-212080112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369529321	chr1:212080121-212080122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377564574	chr1:212080130-212080131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56311053	chr1:212080147-212080148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374584572	chr1:212080153-212080154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377618260	chr1:212080156-212080157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56823300	chr1:212080159-212080160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12045536	chr1:212080162-212080163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2970584	chr1:212080165-212080166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368496094	chr1:212080166-212080167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56001819	chr1:212080168-212080169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373648861	chr1:212080171-212080172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553434437	chr1:212080174-212080175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71137713	chr1:212080185-212080186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34076574	chr1:212080192-212080193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58039856	chr1:212080194-212080195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566915860	chr1:212080202-212080203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186757109	chr1:212080265-212080266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545393743	chr1:212080343-212080344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17018161	chr1:212080347-212080348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12045599	chr1:212080363-212080364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212076200-212080000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:212076200-212080800	Weak transcription	Esophagus	oesophagus
3	chr1:212076200-212083600	Weak transcription	Pancreas	Pancrea
4	chr1:212077200-212082600	Weak transcription	Colonic Mucosa	Colon
5	chr1:212077400-212082400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:212078000-212082400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:212078000-212082400	Weak transcription	HepG2	liver
8	chr1:212078400-212081800	Weak transcription	Liver	Liver
9	chr1:212078800-212080400	Weak transcription	Fetal Intestine Large	intestine
10	chr1:212078800-212080800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:212079600-212087400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:212079800-212080000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:212080000-212081000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:212080400-212087600	Enhancers	Fetal Intestine Large	intestine
15	chr1:212080800-212081000	Enhancers	Esophagus	oesophagus
16	chr1:212080800-212081400	Enhancers	GM12878-XiMat	blood
17	chr1:212080800-212087000	Enhancers	Fetal Intestine Small	intestine
18	chr1:212081000-212085000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:212081200-212082200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:212081200-212083600	Weak transcription	Esophagus	oesophagus
21	chr1:212081400-212081600	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:212081600-212081800	Enhancers	GM12878-XiMat	blood
23	chr1:212081600-212082200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:212081600-212082600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:212081600-212082800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:212081800-212082000	Flanking Active TSS	GM12878-XiMat	blood
27	chr1:212081800-212085800	Enhancers	Liver	Liver
28	chr1:212082000-212082800	Enhancers	GM12878-XiMat	blood
29	chr1:212082200-212082800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links