Variant report

Variant	esv3494433
Chromosome Location	chr19:28315698-28346929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105940951..105942780-chr19:28339771..28341271,2	MCF-7	breast:
2	chr19:28331441..28333608-chr19:28335036..28336613,2	K562	blood:
3	chr19:28331279..28332941-chr19:28335036..28337118,2	K562	blood:
4	chr19:28331441..28333608-chr19:28335036..28336613,2	K562	blood:
5	chr14:105940702..105944648-chr19:28339771..28342771,5	MCF-7	breast:
6	chr19:28331279..28332941-chr19:28335036..28337118,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UQCRFS1-6	chr19:28340638-28340977	ENSG00000266977.1
2	lnc-UQCRFS1-6	chr19:28340562-28340977	XLOC_013284

No data

Variant related genes	Relation type
ENSG00000182809	chromatin interactions

Extended variants
information (count: 915 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73033885	chr19:28315701-28315702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376369474	chr19:28315713-28315714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563019841	chr19:28315748-28315749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191918089	chr19:28315806-28315807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548605278	chr19:28315837-28315838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148402680	chr19:28315845-28315846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113783960	chr19:28315860-28315861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527991452	chr19:28315867-28315868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112991920	chr19:28315897-28315898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551964616	chr19:28315899-28315900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184347554	chr19:28315943-28315944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62116566	chr19:28315951-28315952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77915659	chr19:28315975-28315976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74665241	chr19:28315976-28315977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368795446	chr19:28316025-28316026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538093269	chr19:28316026-28316027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556328024	chr19:28316028-28316029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567821811	chr19:28316046-28316047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528188564	chr19:28316053-28316054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535134234	chr19:28316091-28316092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73033890	chr19:28316108-28316109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10420486	chr19:28316116-28316117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs73033893	chr19:28316119-28316120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71169712	chr19:28316132-28316133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73033895	chr19:28316142-28316143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78702812	chr19:28316147-28316148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78826471	chr19:28316149-28316150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78460030	chr19:28316155-28316156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77102238	chr19:28316158-28316159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142128249	chr19:28316161-28316162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377415300	chr19:28316162-28316163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75359233	chr19:28316168-28316169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545468175	chr19:28316175-28316176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80311143	chr19:28316178-28316179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10411325	chr19:28316179-28316180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79504474	chr19:28316187-28316188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77762634	chr19:28316188-28316189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74487303	chr19:28316197-28316198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76358492	chr19:28316199-28316200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77005842	chr19:28316200-28316201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77794671	chr19:28316202-28316203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79460809	chr19:28316208-28316209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546874393	chr19:28316221-28316222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78877998	chr19:28316223-28316224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188409817	chr19:28316233-28316234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74539892	chr19:28316237-28316238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568442736	chr19:28316238-28316239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74402474	chr19:28316243-28316244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74497000	chr19:28316248-28316249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181222618	chr19:28316250-28316251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:28314200-28319200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr19:28318400-28319600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:28318600-28319200	ZNF genes & repeats	Aorta	Aorta
4	chr19:28319200-28320000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr19:28320000-28320200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:28321800-28322200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr19:28323800-28324000	Enhancers	Right Atrium	heart
8	chr19:28323800-28324400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:28323800-28324600	Enhancers	NHEK	skin
10	chr19:28329000-28329600	Enhancers	Dnd41	blood
11	chr19:28329400-28332200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr19:28329600-28330400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:28329600-28331200	Weak transcription	Dnd41	blood
14	chr19:28331200-28331600	Enhancers	Dnd41	blood
15	chr19:28339000-28344000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:28339200-28340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr19:28339400-28340000	ZNF genes & repeats	HepG2	liver
18	chr19:28341400-28342800	ZNF genes & repeats	Colonic Mucosa	Colon
19	chr19:28341400-28342800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
20	chr19:28341800-28342800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:28342000-28343000	ZNF genes & repeats	Gastric	stomach
22	chr19:28342000-28343000	ZNF genes & repeats	Dnd41	blood
23	chr19:28342200-28342800	ZNF genes & repeats	Spleen	Spleen
24	chr19:28342200-28343000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr19:28342400-28343000	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:28344000-28344400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links