Variant report

Variant	nsv564906
Chromosome Location	chr14:64595673-64612858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:64604413-64604726	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:64604520-64604670	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr14:64604474-64604673	Pancreas_OC	pancreas:	n/a	n/a
4	CTCF	chr14:64604520-64604670	BE2_C	brain:	n/a	n/a
5	CTCF	chr14:64604303-64604923	A549	lung:	n/a	n/a
6	CTCF	chr14:64604460-64604610	BJ	skin:	n/a	n/a
7	CTCF	chr14:64604440-64604590	GM12874	blood:	n/a	n/a
8	CTCF	chr14:64604343-64604756	T-47D	breast:	n/a	n/a
9	CTCF	chr14:64607190-64607290	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:64604373-64604773	A549	lung:	n/a	n/a
11	CTCF	chr14:64604476-64604651	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr14:64604450-64604694	LNCaP	prostate:	n/a	n/a
13	CTCF	chr14:64604500-64604650	GM12872	blood:	n/a	n/a
14	CTCF	chr14:64604474-64604651	A549	lung:	n/a	n/a
15	CTCF	chr14:64604520-64604670	A549	lung:	n/a	n/a
16	CTCF	chr14:64604499-64604683	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:64604424-64604716	IMR90	lung:	n/a	n/a
18	CTCF	chr14:64604455-64604744	MCF-7	breast:	n/a	n/a
19	CTCF	chr14:64604500-64604650	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr14:64604500-64604650	HPF	lung:	n/a	n/a
21	CTCF	chr14:64604407-64604714	A549	lung:	n/a	n/a
22	CTCF	chr14:64604495-64604694	GM19238	blood:	n/a	n/a
23	CTCF	chr14:64604500-64604650	GM12865	blood:	n/a	n/a
24	CTCF	chr14:64604463-64604674	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr14:64604524-64604655	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr14:64604448-64604713	LNCaP	prostate:	n/a	n/a
27	CTCF	chr14:64604482-64604719	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr14:64604520-64604670	Caco-2	colon:	n/a	n/a
29	CTCF	chr14:64604460-64604610	GM12865	blood:	n/a	n/a
30	CTCF	chr14:64604320-64604470	HCM	heart:	n/a	n/a
31	CTCF	chr14:64604540-64604690	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr14:64604499-64604639	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr14:64604620-64604770	HFF	foreskin:	n/a	n/a
34	CTCF	chr14:64604502-64604660	GM10266	blood:	n/a	n/a
35	CTCF	chr14:64604440-64604590	HAc	cerebellar:	n/a	n/a
36	CTCF	chr14:64604500-64604650	GM12868	blood:	n/a	n/a
37	CTCF	chr14:64604382-64604864	K562	blood:	n/a	n/a
38	CTCF	chr14:64604460-64604610	AG09309	skin:	n/a	n/a
39	CTCF	chr14:64604440-64604590	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr14:64604399-64604721	T-47D	breast:	n/a	n/a
41	CTCF	chr14:64604540-64604690	HPF	lung:	n/a	n/a
42	CTCF	chr14:64604537-64604645	GM19239	blood:	n/a	n/a
43	CTCF	chr14:64607215-64607288	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:64604500-64604650	GM12874	blood:	n/a	n/a
45	CTCF	chr14:64607232-64607268	GM19238	blood:	n/a	n/a
46	CTCF	chr14:64604440-64604590	HCM	heart:	n/a	n/a
47	CTCF	chr14:64604520-64604670	HEK293	kidney:	n/a	n/a
48	CTCF	chr14:64604542-64604598	GM13977	blood:	n/a	n/a
49	CTCF	chr14:64604500-64604650	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr14:64604500-64604650	GM12864	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64604526..64605452-chr14:64761263..64761766,2	K562	blood:
2	chr14:64604050..64605326-chr14:64761261..64762254,11	MCF-7	breast:
3	chr14:64607215..64609430-chr14:64610944..64612562,2	MCF-7	breast:
4	chr14:64604106..64605326-chr14:64769895..64770529,5	MCF-7	breast:
5	chr14:64598225..64598954-chr14:64761266..64762196,2	K562	blood:
6	chr14:64611735..64614161-chr14:64762430..64763965,2	MCF-7	breast:
7	chr14:64604081..64605250-chr14:64769694..64771281,8	MCF-7	breast:
8	chr14:64603180..64606087-chr14:64758576..64761185,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYNE2	TF binding region
ENSG00000140009	chromatin interactions
ENSG00000054654	chromatin interactions

Extended variants
information (count: 824 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386778299	chr14:64595673-64595674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10047814	chr14:64595674-64595675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555942680	chr14:64595677-64595678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560416578	chr14:64595680-64595681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575637461	chr14:64595747-64595748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544650329	chr14:64595751-64595752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35852840	chr14:64595763-64595764	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563075569	chr14:64595764-64595765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190331345	chr14:64595773-64595774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138606316	chr14:64595774-64595775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10047901	chr14:64595808-64595809	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528886214	chr14:64595842-64595843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201972508	chr14:64595856-64595857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147202699	chr14:64595861-64595862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548567992	chr14:64595897-64595898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200069924	chr14:64595898-64595899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568974585	chr14:64595918-64595919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377342778	chr14:64595926-64595927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138798564	chr14:64595951-64595952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547726985	chr14:64595957-64595958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571367428	chr14:64596016-64596017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369937287	chr14:64596026-64596027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142078556	chr14:64596056-64596057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145627735	chr14:64596214-64596215	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs192546883	chr14:64596247-64596248	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567875682	chr14:64596248-64596249	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535888918	chr14:64596250-64596251	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371328485	chr14:64596268-64596269	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs138191317	chr14:64596307-64596308	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs567645067	chr14:64596358-64596359	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575550506	chr14:64596361-64596362	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536881995	chr14:64596377-64596378	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs556775192	chr14:64596379-64596380	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs576657825	chr14:64596393-64596394	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577852606	chr14:64596461-64596462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374498004	chr14:64596463-64596464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540406876	chr14:64596464-64596465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142777639	chr14:64596485-64596486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550520101	chr14:64596489-64596490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184218195	chr14:64596524-64596525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146157227	chr14:64596527-64596528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542872767	chr14:64596530-64596531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10133691	chr14:64596537-64596538	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188252400	chr14:64596543-64596544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143798878	chr14:64596551-64596552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200893674	chr14:64596568-64596569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111880729	chr14:64596584-64596585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374778697	chr14:64596624-64596625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200625889	chr14:64596632-64596633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369179166	chr14:64596652-64596653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD

Chromatin state (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr14:64562800-64596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:64567200-64616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:64577800-64616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:64579600-64611000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:64580600-64600200	Weak transcription	Stomach Mucosa	stomach
10	chr14:64581400-64613400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:64581800-64650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:64582200-64596600	Weak transcription	Psoas Muscle	Psoas
13	chr14:64583400-64649000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr14:64583600-64605400	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:64583600-64611800	Strong transcription	Dnd41	blood
16	chr14:64583600-64638000	Strong transcription	Placenta	Placenta
17	chr14:64584400-64616000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:64584600-64607000	Weak transcription	HUVEC	blood vessel
19	chr14:64584600-64623000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:64584800-64605400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr14:64585400-64613400	Weak transcription	HSMM	muscle
22	chr14:64585600-64607400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:64585600-64615600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr14:64585800-64614400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:64586000-64649000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:64586200-64597400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:64586200-64602600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:64586400-64599600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:64586400-64631800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:64586600-64603800	Weak transcription	HSMMtube	muscle
31	chr14:64586600-64614000	Weak transcription	Fetal Heart	heart
32	chr14:64587200-64601200	Strong transcription	Ovary	ovary
33	chr14:64587600-64597000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:64587600-64597000	Strong transcription	Left Ventricle	heart
35	chr14:64587600-64601400	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:64587800-64597600	Strong transcription	Thymus	Thymus
37	chr14:64587800-64598200	Strong transcription	Adipose Nuclei	Adipose
38	chr14:64587800-64601400	Strong transcription	Fetal Intestine Large	intestine
39	chr14:64588200-64601400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:64588600-64597000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:64588800-64598200	Strong transcription	Brain Germinal Matrix	brain
42	chr14:64588800-64611600	Strong transcription	Primary T cells from cord blood	blood
43	chr14:64590200-64596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:64590200-64634000	Weak transcription	HepG2	liver
45	chr14:64590400-64608800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr14:64591000-64649000	Strong transcription	Liver	Liver
47	chr14:64591200-64597000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:64591200-64601400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:64591600-64596800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:64591600-64597000	Strong transcription	H1 Cell Line	embryonic stem cell

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