Variant report

Variant	nsv525874
Chromosome Location	chr14:103937372-103950368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:100 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:103946831-103947395	GM12878	blood:	n/a	n/a
2	BATF	chr14:103939276-103939661	GM12878	blood:	n/a	n/a
3	BATF	chr14:103939327-103939589	GM12878	blood:	n/a	n/a
4	BCL11A	chr14:103946955-103947324	GM12878	blood:	n/a	n/a
5	CEBPB	chr14:103940500-103940505	A549	lung:	n/a	n/a
6	CEBPB	chr14:103940399-103940631	K562	blood:	n/a	n/a
7	CEBPB	chr14:103940416-103940498	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr14:103949976-103950483	IMR90	lung:	n/a	n/a
9	CREB1	chr14:103946905-103947427	GM12878	blood:	n/a	n/a
10	CTCF	chr14:103940040-103940190	GM12871	blood:	n/a	n/a
11	CTCF	chr14:103947320-103947470	GM12869	blood:	n/a	n/a
12	E2F4	chr14:103949927-103950230	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr14:103939283-103939527	GM12878	blood:	n/a	n/a
14	EBF1	chr14:103946914-103947267	GM12878	blood:	n/a	chr14:103947063-103947074
15	EBF1	chr14:103939258-103939565	GM12878	blood:	n/a	n/a
16	FOS	chr14:103947927-103948007	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr14:103949904-103950391	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr14:103949906-103950297	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr14:103949900-103950398	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr14:103947927-103948011	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr14:103949985-103950325	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr14:103947927-103948010	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr14:103949953-103950350	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr14:103944253-103944299	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXM1	chr14:103939217-103939726	GM12878	blood:	n/a	n/a
26	FOXM1	chr14:103946977-103947296	GM12878	blood:	n/a	n/a
27	MAFK	chr14:103942480-103942504	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr14:103947783-103947917	K562	blood:	n/a	n/a
29	MYC	chr14:103949939-103950274	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr14:103949970-103950294	MCF10A-Er-Src	breast:	n/a	n/a
31	NFATC1	chr14:103939258-103939725	GM12878	blood:	n/a	n/a
32	NFIC	chr14:103939262-103939748	GM12878	blood:	n/a	n/a
33	NFIC	chr14:103949796-103950439	SK-N-SH	brain:	n/a	n/a
34	NFIC	chr14:103946822-103947365	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:103941792-103941977	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr14:103940661-103940833	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr14:103943579-103943710	HepG2	liver:	n/a	n/a
38	POLR2A	chr14:103942421-103942423	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:103937885-103937960	K562	blood:	n/a	n/a
40	POLR2A	chr14:103942559-103942630	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:103940553-103940622	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr14:103945914-103946091	K562	blood:	n/a	n/a
43	POLR2A	chr14:103939537-103939797	K562	blood:	n/a	n/a
44	POLR2A	chr14:103939545-103939892	K562	blood:	n/a	n/a
45	POLR2A	chr14:103944342-103944554	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:103942389-103942616	K562	blood:	n/a	n/a
47	POLR2A	chr14:103942533-103942722	K562	blood:	n/a	n/a
48	POLR2A	chr14:103937382-103937431	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr14:103940725-103940760	K562	blood:	n/a	n/a
50	POLR2A	chr14:103943984-103944070	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103936184..103939153-chr14:103940230..103942557,2	MCF-7	breast:
2	chr14:103910725..103912536-chr14:103938004..103940209,2	MCF-7	breast:
3	chr14:103928725..103932074-chr14:103935042..103939348,3	MCF-7	breast:
4	chr14:103936726..103938718-chr14:103938983..103940758,2	MCF-7	breast:
5	chr14:103948825..103951654-chr14:103995758..103998626,2	K562	blood:
6	chr14:103936726..103938718-chr14:103938983..103940758,2	MCF-7	breast:
7	chr14:103800569..103802561-chr14:103941445..103944384,2	MCF-7	breast:

No data

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000100664	chromatin interactions
ENSG00000075413	chromatin interactions

Extended variants
information (count: 556 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8014013	chr14:103937372-103937373	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141760276	chr14:103937377-103937378	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571719731	chr14:103937442-103937443	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150000409	chr14:103937443-103937444	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145263517	chr14:103937470-103937471	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372804291	chr14:103937498-103937499	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550133988	chr14:103937514-103937515	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117320046	chr14:103937548-103937549	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553605060	chr14:103937571-103937572	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563648764	chr14:103937575-103937576	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566688626	chr14:103937632-103937633	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs573119084	chr14:103937785-103937786	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77714559	chr14:103937805-103937806	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373028126	chr14:103937808-103937809	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145072865	chr14:103937842-103937843	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190286270	chr14:103937849-103937850	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182790256	chr14:103937900-103937901	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560757333	chr14:103937929-103937930	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529663803	chr14:103937954-103937955	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546593588	chr14:103937961-103937962	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560447682	chr14:103937979-103937980	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149132626	chr14:103937989-103937990	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188748072	chr14:103938030-103938031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192841700	chr14:103938077-103938078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139838405	chr14:103938104-103938105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201128380	chr14:103938105-103938106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34431173	chr14:103938106-103938107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs59495186	chr14:103938107-103938108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370492104	chr14:103938108-103938109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138034241	chr14:103938109-103938110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10592836	chr14:103938154-103938155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569061820	chr14:103938155-103938156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543162605	chr14:103938189-103938190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185231177	chr14:103938225-103938226	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112768720	chr14:103938229-103938230	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566236005	chr14:103938267-103938268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567577983	chr14:103938329-103938330	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536616542	chr14:103938335-103938336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553264021	chr14:103938372-103938373	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535221298	chr14:103938384-103938385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368964844	chr14:103938437-103938438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573156022	chr14:103938444-103938445	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551830600	chr14:103938445-103938446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187875937	chr14:103938472-103938473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558768611	chr14:103938499-103938500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571884826	chr14:103938516-103938517	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35696641	chr14:103938546-103938547	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544003865	chr14:103938620-103938621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554615659	chr14:103938624-103938625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574357420	chr14:103938630-103938631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Cancer	17160897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:103918600-103941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:103922400-103939200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:103922800-103940800	Weak transcription	Fetal Heart	heart
7	chr14:103923000-103941600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:103923200-103938200	Strong transcription	NHEK	skin
10	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:103923800-103938400	Strong transcription	Liver	Liver
13	chr14:103923800-103941400	Weak transcription	Small Intestine	intestine
14	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:103926200-103950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:103926600-103938400	Strong transcription	HMEC	breast
18	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
19	chr14:103927200-103938400	Strong transcription	Dnd41	blood
20	chr14:103927200-103942400	Weak transcription	Fetal Brain Male	brain
21	chr14:103927400-103944200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:103927400-103944800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:103927600-103938400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:103927600-103938400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:103927600-103944000	Strong transcription	Fetal Thymus	thymus
26	chr14:103927600-103946600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:103927800-103938000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:103927800-103938000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:103927800-103938000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:103927800-103938000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr14:103927800-103938200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:103927800-103938400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:103927800-103939600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:103927800-103944400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:103927800-103945400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr14:103927800-103946000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:103927800-103946400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:103927800-103946600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr14:103927800-103949200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:103927800-103951000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:103927800-103951600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:103928000-103938000	Strong transcription	Osteobl	bone
44	chr14:103928000-103938200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:103928000-103938200	Strong transcription	Thymus	Thymus
46	chr14:103928000-103946600	Strong transcription	Primary T cells from cord blood	blood
47	chr14:103928000-103946800	Strong transcription	Fetal Intestine Small	intestine
48	chr14:103928000-103947600	Strong transcription	Fetal Stomach	stomach
49	chr14:103928400-103945400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:103928400-103947600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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