Variant report

Variant	esv2421594
Chromosome Location	chr5:90614420-90621069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:90615268-90615425	A549	lung:	n/a	chr5:90615354-90615367 chr5:90615354-90615365 chr5:90615356-90615365 chr5:90615356-90615365 chr5:90615354-90615367 chr5:90615354-90615365 chr5:90615356-90615365 chr5:90615355-90615366 chr5:90615354-90615367 chr5:90615356-90615365
2	CEBPB	chr5:90615288-90615489	IMR90	lung:	n/a	chr5:90615354-90615367 chr5:90615354-90615365 chr5:90615356-90615365 chr5:90615356-90615365 chr5:90615354-90615367 chr5:90615354-90615365 chr5:90615356-90615365 chr5:90615355-90615366 chr5:90615354-90615367 chr5:90615356-90615365
3	CEBPB	chr5:90615263-90615500	HepG2	liver:	n/a	chr5:90615354-90615367 chr5:90615354-90615365 chr5:90615356-90615365 chr5:90615356-90615365 chr5:90615354-90615367 chr5:90615354-90615365 chr5:90615356-90615365 chr5:90615355-90615366 chr5:90615354-90615367 chr5:90615356-90615365
4	CEBPB	chr5:90615320-90615415	K562	blood:	n/a	chr5:90615354-90615367 chr5:90615354-90615365 chr5:90615356-90615365 chr5:90615356-90615365 chr5:90615354-90615367 chr5:90615354-90615365 chr5:90615356-90615365 chr5:90615355-90615366 chr5:90615354-90615367 chr5:90615356-90615365
5	CTCF	chr5:90617051-90617074	GM20000	blood:	n/a	n/a
6	JUN	chr5:90619249-90619335	K562	blood:	n/a	n/a
7	POLR2A	chr5:90620604-90620792	MCF-7	breast:	n/a	n/a
8	ZNF384	chr5:90619148-90619313	K562	blood:	n/a	n/a
9	ZNF384	chr5:90616681-90616796	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:90618234..90620090-chr5:90677818..90680379,2	K562	blood:
2	chr5:90620286..90621893-chr5:90673797..90676777,2	K562	blood:
3	chr5:90620286..90631493-chr5:90673961..90680952,22	K562	blood:
4	chr5:90612170..90615161-chr5:90674810..90679119,5	MCF-7	breast:
5	chr5:90617175..90620471-chr5:90674787..90678381,3	MCF-7	breast:
6	chr5:90613052..90614595-chr5:90677675..90679840,2	K562	blood:
7	chr5:90620993..90625952-chr5:90626297..90629321,4	K562	blood:
8	chr5:90617681..90620260-chr5:90671703..90674445,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR98-2	chr5:90620894-90621000	XLOC_004468

Variant related genes	Relation type
ENSG00000271762	TF binding region
LUCAT1	TF binding region
ENSG00000113369	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:296 , 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	rs527367209	chr5:90614490-90614491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs55961630	chr5:90614494-90614495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184635190	chr5:90614565-90614566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546947779	chr5:90614653-90614654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138368686	chr5:90614655-90614656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149283213	chr5:90614671-90614672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560107440	chr5:90614693-90614694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190311900	chr5:90614694-90614695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146210046	chr5:90614755-90614756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139311613	chr5:90614767-90614768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142515749	chr5:90614798-90614799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550793586	chr5:90614813-90614814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375420381	chr5:90614829-90614830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569543024	chr5:90614837-90614838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532158618	chr5:90614841-90614842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199662366	chr5:90614851-90614852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142185326	chr5:90614863-90614864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs70973752	chr5:90614864-90614865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62373941	chr5:90614865-90614866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367676489	chr5:90614866-90614867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs62373942	chr5:90614867-90614868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs70973753	chr5:90614885-90614886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs193281171	chr5:90614896-90614897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565657647	chr5:90614966-90614967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556125484	chr5:90615048-90615049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184775334	chr5:90615099-90615100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113032071	chr5:90615110-90615111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74641436	chr5:90615179-90615180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142213359	chr5:90615213-90615214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537193403	chr5:90615214-90615215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151255857	chr5:90615241-90615242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576980795	chr5:90615247-90615248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188800564	chr5:90615293-90615294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368005508	chr5:90615318-90615319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181573358	chr5:90615323-90615324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116923017	chr5:90615369-90615370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542149652	chr5:90615397-90615398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562159663	chr5:90615403-90615404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115738444	chr5:90615439-90615440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544726041	chr5:90615444-90615445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185463731	chr5:90615446-90615447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114648832	chr5:90615447-90615448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374193177	chr5:90615498-90615499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531629975	chr5:90615499-90615500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372488516	chr5:90615500-90615501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529104127	chr5:90615504-90615505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190010430	chr5:90615526-90615527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565495931	chr5:90615569-90615570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569161061	chr5:90615571-90615572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35435379	chr5:90615694-90615695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90613800-90624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:90614200-90615400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:90614400-90615200	Enhancers	Fetal Thymus	thymus
4	chr5:90618800-90619000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:90619000-90619200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:90619000-90619400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:90619000-90629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:90619200-90619400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:90619200-90619400	Enhancers	Stomach Smooth Muscle	stomach
10	chr5:90619200-90620200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:90619400-90620000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:90619400-90620200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:90619400-90620600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:90620000-90620400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:90620000-90620600	Weak transcription	Fetal Stomach	stomach
16	chr5:90620000-90621200	Enhancers	Stomach Smooth Muscle	stomach
17	chr5:90620200-90620400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:90620200-90620400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:90620200-90620400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:90620200-90620400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:90620200-90620600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:90620400-90621000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:90620400-90621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:90620400-90627600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:90620600-90620800	Enhancers	Colonic Mucosa	Colon
26	chr5:90620600-90620800	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr5:90620600-90621000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:90620600-90621000	ZNF genes & repeats	Fetal Stomach	stomach
29	chr5:90620600-90621200	Enhancers	Colon Smooth Muscle	Colon
30	chr5:90620600-90621200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:90621000-90621200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:90621000-90621200	Enhancers	A549	lung
33	chr5:90621000-90621800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:90621000-90624600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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