Variant report

Variant	nsv977483
Chromosome Location	chr14:68887798-68889629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr14:68887931-68888084	K562	blood:	n/a	n/a
2	EP300	chr14:68887894-68888138	K562	blood:	n/a	n/a
3	HEY1	chr14:68888827-68888973	K562	blood:	n/a	n/a
4	HEY1	chr14:68888848-68888956	HepG2	liver:	n/a	n/a
5	HEY1	chr14:68888739-68888985	K562	blood:	n/a	n/a
6	HEY1	chr14:68888799-68888992	HepG2	liver:	n/a	n/a
7	JUND	chr14:68887909-68888130	K562	blood:	n/a	n/a
8	MAX	chr14:68887894-68888102	K562	blood:	n/a	n/a
9	MAX	chr14:68887891-68888177	K562	blood:	n/a	n/a
10	MAZ	chr14:68887919-68888136	K562	blood:	n/a	n/a
11	MYC	chr14:68887921-68888138	K562	blood:	n/a	n/a
12	MYC	chr14:68888025-68888056	K562	blood:	n/a	n/a
13	MYC	chr14:68887745-68888176	K562	blood:	n/a	chr14:68887784-68887794
14	POLR2A	chr14:68888803-68888946	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:68888835-68888966	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:68888760-68888986	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:68888795-68889001	GM12891	blood:	n/a	n/a
18	POLR2A	chr14:68888764-68888976	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:68888831-68888964	A549	lung:	n/a	n/a
20	POLR2A	chr14:68888821-68888978	GM12891	blood:	n/a	n/a
21	POLR2A	chr14:68888842-68888957	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:68888808-68888952	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:68888787-68889047	GM12892	blood:	n/a	n/a
24	POLR2A	chr14:68888861-68888949	A549	lung:	n/a	n/a
25	POLR2A	chr14:68888866-68888935	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:68888839-68888960	GM12891	blood:	n/a	n/a
27	POLR2A	chr14:68888873-68888929	A549	lung:	n/a	n/a
28	POLR2A	chr14:68888866-68888941	A549	lung:	n/a	n/a
29	POLR2A	chr14:68888799-68889069	GM12892	blood:	n/a	n/a
30	POLR2A	chr14:68888709-68889182	GM12878	blood:	n/a	n/a
31	RCOR1	chr14:68887906-68888104	K562	blood:	n/a	n/a
32	RCOR1	chr14:68887804-68888212	K562	blood:	n/a	n/a
33	TAF1	chr14:68888805-68888978	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr14:68888753-68889061	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAL1	chr14:68887867-68888201	K562	blood:	n/a	n/a
36	TEAD4	chr14:68887867-68888187	K562	blood:	n/a	n/a
37	TEAD4	chr14:68887816-68888211	K562	blood:	n/a	n/a
38	UBTF	chr14:68887857-68887988	K562	blood:	n/a	n/a
39	UBTF	chr14:68888018-68888168	K562	blood:	n/a	n/a
40	ZBTB33	chr14:68888188-68888542	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68885394..68888226-chr14:69257512..69260441,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP36L1-8	chr14:68888415-68888913	NONHSAT037482

No data

Variant related genes	Relation type
PPIAP6	TF binding region
ENSG00000185650	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543385686	chr14:68887823-68887824	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561411465	chr14:68887839-68887840	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181414135	chr14:68887845-68887846	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556840543	chr14:68887935-68887936	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540483991	chr14:68887990-68887991	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs60443209	chr14:68888022-68888023	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11849916	chr14:68888038-68888039	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186828609	chr14:68888041-68888042	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569351523	chr14:68888042-68888043	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141648369	chr14:68888247-68888248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35910240	chr14:68888266-68888267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549286813	chr14:68888280-68888281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567471110	chr14:68888334-68888335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542399371	chr14:68888336-68888337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17113834	chr14:68888337-68888338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552901183	chr14:68888344-68888345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554462341	chr14:68888420-68888421	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs539184575	chr14:68888422-68888423	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs557483551	chr14:68888504-68888505	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs572624612	chr14:68888508-68888509	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs8013236	chr14:68888534-68888535	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10873213	chr14:68888556-68888557	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540872192	chr14:68888586-68888587	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs369775731	chr14:68888608-68888609	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs373886780	chr14:68888612-68888613	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs117125455	chr14:68888656-68888657	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs10747299	chr14:68888659-68888660	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544737223	chr14:68888673-68888674	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs190064036	chr14:68888719-68888720	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs114385655	chr14:68888797-68888798	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs548719709	chr14:68888799-68888800	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs543900318	chr14:68888877-68888878	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs117895123	chr14:68888878-68888879	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs528380896	chr14:68888900-68888901	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs546871330	chr14:68888927-68888928	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182201195	chr14:68888928-68888929	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs114938364	chr14:68888937-68888938	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs61064711	chr14:68888947-68888948	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs375565786	chr14:68888951-68888952	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12590319	chr14:68889011-68889012	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373370159	chr14:68889046-68889047	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs375817634	chr14:68889062-68889063	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs554667351	chr14:68889063-68889064	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs537858002	chr14:68889081-68889082	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs573185200	chr14:68889153-68889154	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs534264140	chr14:68889183-68889184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558808404	chr14:68889201-68889202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577050355	chr14:68889250-68889251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60206313	chr14:68889295-68889296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141970024	chr14:68889352-68889353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68877200-68890600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:68881000-68890600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:68882200-68890000	Weak transcription	Small Intestine	intestine
4	chr14:68882400-68893400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:68883400-68888200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:68884000-68890200	Weak transcription	Primary B cells from cord blood	blood
7	chr14:68884200-68890800	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:68885200-68893600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:68885600-68888000	Enhancers	Primary T cells from cord blood	blood
10	chr14:68885800-68889600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:68886000-68890600	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:68886200-68888200	Enhancers	Spleen	Spleen
13	chr14:68886200-68894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:68886600-68887800	Weak transcription	Ovary	ovary
15	chr14:68886600-68890000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:68886600-68903200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:68887000-68888400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:68887200-68887800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr14:68887200-68887800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:68887200-68887800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:68887200-68888000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:68887200-68888000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:68887200-68888000	Enhancers	Fetal Kidney	kidney
24	chr14:68887200-68888000	Enhancers	Fetal Lung	lung
25	chr14:68887200-68888200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:68887200-68888200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:68887200-68888200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:68887200-68888400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:68887400-68888000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr14:68887400-68888000	Enhancers	Fetal Heart	heart
31	chr14:68887400-68888000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr14:68887400-68888200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:68887400-68888200	Enhancers	K562	blood
34	chr14:68887600-68888000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:68887600-68888000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr14:68887800-68888000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr14:68887800-68888000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:68887800-68888200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:68887800-68888200	Enhancers	Right Atrium	heart
40	chr14:68887800-68888800	Enhancers	Ovary	ovary
41	chr14:68887800-68890600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:68887800-68890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:68888000-68888200	Active TSS	Rectal Smooth Muscle	rectum
44	chr14:68888000-68888400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:68888000-68889600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:68888000-68891000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:68888000-68893400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:68888000-68901000	Weak transcription	Primary T cells from cord blood	blood
49	chr14:68888200-68891800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:68888200-68892600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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