Variant report

Variant	nsv976372
Chromosome Location	chr14:103878531-103880450
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	CTCF	chr14:103878972-103879033	GM10248	blood:	n/a	n/a
2	POLR2A	chr14:103878790-103878887	ProgFib	skin:	n/a	n/a
3	POLR2A	chr14:103878969-103878997	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:103878875-103878978	K562	blood:	n/a	n/a
5	POLR2A	chr14:103879033-103879260	ProgFib	skin:	n/a	n/a
6	POLR2A	chr14:103878629-103879123	K562	blood:	n/a	n/a
7	POLR2A	chr14:103878898-103879001	ProgFib	skin:	n/a	n/a
8	POLR2A	chr14:103878522-103879122	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:103878675-103878790	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103876768..103879568-chr14:103882112..103883749,2	MCF-7	breast:

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000244691	TF binding region
ENSG00000075413	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187292630	chr14:103878559-103878560	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532241861	chr14:103878594-103878595	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532894399	chr14:103878597-103878598	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192863871	chr14:103878598-103878599	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568533174	chr14:103878660-103878661	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531487952	chr14:103878676-103878677	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535657578	chr14:103878688-103878689	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111367179	chr14:103878735-103878736	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185344416	chr14:103878736-103878737	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575473289	chr14:103878757-103878758	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12882130	chr14:103878774-103878775	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs553944786	chr14:103878799-103878800	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566819239	chr14:103878807-103878808	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs56043987	chr14:103878814-103878815	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
15	rs190212486	chr14:103878821-103878822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575740605	chr14:103878867-103878868	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544908887	chr14:103878881-103878882	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs4906321	chr14:103878882-103878883	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs575210804	chr14:103878910-103878911	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs528874527	chr14:103878918-103878919	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113395244	chr14:103878943-103878944	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4900573	chr14:103878949-103878950	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375017491	chr14:103878956-103878957	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs545918592	chr14:103878969-103878970	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs372235726	chr14:103878978-103878979	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs60972894	chr14:103878979-103878980	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs386780958	chr14:103878980-103878981	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140885130	chr14:103878981-103878982	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs58695168	chr14:103878983-103878984	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562135148	chr14:103878987-103878988	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201249209	chr14:103879002-103879003	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531253609	chr14:103879023-103879024	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4900574	chr14:103879024-103879025	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4906322	chr14:103879032-103879033	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs150138169	chr14:103879042-103879043	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs570657005	chr14:103879060-103879061	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565639508	chr14:103879077-103879078	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs552742068	chr14:103879078-103879079	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569270645	chr14:103879147-103879148	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538193376	chr14:103879155-103879156	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs2065018	chr14:103879187-103879188	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs147836628	chr14:103879190-103879191	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs575508166	chr14:103879196-103879197	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs556277043	chr14:103879233-103879234	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs113475607	chr14:103879234-103879235	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs141338222	chr14:103879242-103879243	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs146947849	chr14:103879273-103879274	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545577840	chr14:103879280-103879281	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552535603	chr14:103879310-103879311	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562198958	chr14:103879337-103879338	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
3	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:103868400-103880000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:103869600-103882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
11	chr14:103871000-103878600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:103871000-103883000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
14	chr14:103871000-103883600	Strong transcription	Dnd41	blood
15	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:103871200-103878600	Weak transcription	NHLF	lung
17	chr14:103871200-103880000	Weak transcription	NHDF-Ad	bronchial
18	chr14:103871400-103879600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:103871400-103881200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:103871400-103881400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:103871400-103882800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:103871600-103883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:103871600-103883400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:103872000-103883200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:103872200-103883800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr14:103873200-103881000	Strong transcription	Primary T cells from cord blood	blood
27	chr14:103873400-103880600	Strong transcription	Osteobl	bone
28	chr14:103874200-103881000	Strong transcription	Thymus	Thymus
29	chr14:103874600-103884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:103874800-103883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:103875000-103878600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr14:103875000-103880000	Weak transcription	Fetal Brain Female	brain
34	chr14:103875000-103880600	Weak transcription	A549	lung
35	chr14:103875200-103878600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:103875200-103880800	Weak transcription	HUVEC	blood vessel
37	chr14:103875200-103888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:103875200-103889200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:103875400-103878600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:103875400-103878600	Weak transcription	Adipose Nuclei	Adipose
42	chr14:103875400-103878600	Weak transcription	Fetal Lung	lung
43	chr14:103875400-103878600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:103875400-103878600	Weak transcription	Right Ventricle	heart
45	chr14:103875400-103878600	Weak transcription	Spleen	Spleen
46	chr14:103875400-103881400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:103875400-103882600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:103875400-103882600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:103875400-103882600	Weak transcription	Ovary	ovary
50	chr14:103875400-103882800	Weak transcription	Right Atrium	heart

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