Variant report

Variant	esv2462414
Chromosome Location	chr2:33780272-33781729
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	chr2:33777937..33780353-chr2:33783539..33786426,2	MCF-7	breast:
2	chr2:33779415..33782050-chr2:33782764..33784303,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-1	chr2:33780114-33780381	ENSG00000237133.1

Extended variants
information (count: 77 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188643794	chr2:33780272-33780273	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs75228258	chr2:33780280-33780281	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs567316757	chr2:33780286-33780287	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs568405493	chr2:33780315-33780316	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536539161	chr2:33780319-33780320	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs181265970	chr2:33780326-33780327	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs150963939	chr2:33780343-33780344	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs142018028	chr2:33780353-33780354	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs558200366	chr2:33780361-33780362	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs556710411	chr2:33780393-33780394	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10182807	chr2:33780401-33780402	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546482670	chr2:33780409-33780410	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371316431	chr2:33780436-33780437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529289272	chr2:33780440-33780441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs72867432	chr2:33780444-33780445	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563068853	chr2:33780466-33780467	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs535774748	chr2:33780512-33780513	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377740104	chr2:33780572-33780573	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371193726	chr2:33780580-33780581	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551690992	chr2:33780581-33780582	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs375017489	chr2:33780623-33780624	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs367667575	chr2:33780626-33780627	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571272904	chr2:33780660-33780661	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs57686411	chr2:33780701-33780702	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547553290	chr2:33780711-33780712	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs147822540	chr2:33780746-33780747	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370534397	chr2:33780755-33780756	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574446702	chr2:33780757-33780758	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112764723	chr2:33780759-33780760	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569870035	chr2:33780785-33780786	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538787570	chr2:33780786-33780787	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558479322	chr2:33780826-33780827	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144146259	chr2:33780834-33780835	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113055699	chr2:33780861-33780862	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540320685	chr2:33780875-33780876	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114174359	chr2:33780931-33780932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200544141	chr2:33780966-33780967	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573677658	chr2:33781031-33781032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542679371	chr2:33781036-33781037	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367861415	chr2:33781058-33781059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563155198	chr2:33781059-33781060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576665678	chr2:33781063-33781064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369978954	chr2:33781064-33781065	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189824915	chr2:33781078-33781079	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565327122	chr2:33781081-33781082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527918879	chr2:33781108-33781109	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36033957	chr2:33781152-33781153	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77708772	chr2:33781162-33781163	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557976040	chr2:33781175-33781176	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562210719	chr2:33781205-33781206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:33748000-33790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:33760800-33782200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:33760800-33783600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:33761000-33789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:33761200-33783800	Weak transcription	Psoas Muscle	Psoas
9	chr2:33762200-33809800	Weak transcription	Aorta	Aorta
10	chr2:33765600-33784400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:33766800-33809800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:33772600-33791000	Strong transcription	GM12878-XiMat	blood
13	chr2:33772600-33793400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:33774000-33790200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:33775600-33783400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:33776000-33809800	Weak transcription	Pancreas	Pancrea
17	chr2:33776200-33782800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:33776800-33790600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:33777800-33783000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:33778000-33781000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:33778000-33783600	Weak transcription	Fetal Intestine Small	intestine
22	chr2:33778000-33785200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:33778200-33784800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:33778400-33796800	Weak transcription	Liver	Liver
25	chr2:33778400-33806400	Weak transcription	Primary T cells from cord blood	blood
26	chr2:33778400-33807600	Weak transcription	NH-A	brain
27	chr2:33778400-33808600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:33779000-33780600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:33779200-33780600	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr2:33779200-33780600	Enhancers	Left Ventricle	heart
31	chr2:33779200-33780600	Enhancers	Right Atrium	heart
32	chr2:33779200-33781000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:33779400-33780400	Enhancers	Adipose Nuclei	Adipose
34	chr2:33779400-33780400	Enhancers	Spleen	Spleen
35	chr2:33779400-33783200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:33779600-33780600	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:33779600-33780800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:33779600-33783800	Weak transcription	Lung	lung
39	chr2:33779800-33780400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:33779800-33780400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:33779800-33780400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr2:33779800-33780400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:33779800-33780400	Enhancers	Fetal Muscle Leg	muscle
44	chr2:33779800-33780400	Enhancers	Placenta	Placenta
45	chr2:33779800-33780400	Genic enhancers	Right Ventricle	heart
46	chr2:33779800-33780400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:33779800-33780600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:33779800-33780600	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:33779800-33780800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:33779800-33780800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links