Variant report

Variant	esv3331380
Chromosome Location	chr14:45514002-45515950
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	ARID3A	chr14:45513907-45514130	HepG2	liver:	n/a	n/a
2	BHLHE40	chr14:45513856-45514183	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:45515512-45515656	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr14:45513948-45514128	A549	lung:	n/a	n/a
5	CEBPB	chr14:45513955-45514245	HepG2	liver:	n/a	chr14:45514117-45514130 chr14:45514118-45514129
6	CEBPB	chr14:45515469-45515722	A549	lung:	n/a	n/a
7	CEBPB	chr14:45515444-45515747	IMR90	lung:	n/a	n/a
8	CEBPB	chr14:45515502-45515661	K562	blood:	n/a	n/a
9	FOXA1	chr14:45513782-45514241	HepG2	liver:	n/a	n/a
10	FOXA2	chr14:45513854-45514106	HepG2	liver:	n/a	n/a
11	ZMIZ1	chr14:45514409-45514452	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45513966..45516650-chr14:45524638..45526373,2	MCF-7	breast:

Variant related genes	Relation type
KLHL28	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369594571	chr14:45514018-45514019	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138615717	chr14:45514039-45514040	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372310960	chr14:45514045-45514046	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs202087464	chr14:45514061-45514062	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs369537236	chr14:45514071-45514072	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372823565	chr14:45514087-45514088	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200850675	chr14:45514100-45514101	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs575255141	chr14:45514109-45514110	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111351407	chr14:45514165-45514166	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs150483572	chr14:45514186-45514187	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572907407	chr14:45514216-45514217	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540218101	chr14:45514242-45514243	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs112548625	chr14:45514267-45514268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558906421	chr14:45514270-45514271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113928066	chr14:45514290-45514291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185731587	chr14:45514299-45514300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10148765	chr14:45514323-45514324	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115791545	chr14:45514347-45514348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112621558	chr14:45514387-45514388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564497945	chr14:45514418-45514419	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs529838180	chr14:45514510-45514511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73350007	chr14:45514553-45514554	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10138405	chr14:45514734-45514735	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10149416	chr14:45514735-45514736	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369196409	chr14:45514738-45514739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72363108	chr14:45514745-45514746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12590447	chr14:45514746-45514747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572993420	chr14:45514747-45514748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10149169	chr14:45514748-45514749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202171655	chr14:45514750-45514751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371178353	chr14:45514762-45514763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374684670	chr14:45514764-45514765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12893062	chr14:45514786-45514787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11628422	chr14:45514788-45514789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368783653	chr14:45514790-45514791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370277222	chr14:45514792-45514793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374125480	chr14:45514814-45514815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368062693	chr14:45514816-45514817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199946303	chr14:45514817-45514818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371750822	chr14:45514818-45514819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34370324	chr14:45514822-45514823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12893537	chr14:45514830-45514831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368974461	chr14:45514832-45514833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12894447	chr14:45514833-45514834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12893246	chr14:45514841-45514842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375538081	chr14:45514842-45514843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12894454	chr14:45514843-45514844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10149368	chr14:45514851-45514852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12894457	chr14:45514853-45514854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569583990	chr14:45514858-45514859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:45465800-45552600	Weak transcription	HMEC	breast
4	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
5	chr14:45493000-45535000	Weak transcription	Small Intestine	intestine
6	chr14:45498600-45515600	Weak transcription	NH-A	brain
7	chr14:45499200-45523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:45499800-45523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:45501800-45515200	Weak transcription	Osteobl	bone
10	chr14:45502200-45525600	Weak transcription	NHEK	skin
11	chr14:45505200-45531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:45506800-45533800	Weak transcription	Psoas Muscle	Psoas
13	chr14:45508000-45515200	Weak transcription	Fetal Kidney	kidney
14	chr14:45508000-45540000	Weak transcription	K562	blood
15	chr14:45508200-45528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:45508200-45530200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:45508400-45514400	Weak transcription	Fetal Brain Male	brain
18	chr14:45508400-45515000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:45508400-45515000	Weak transcription	Hela-S3	cervix
20	chr14:45508400-45540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:45508400-45552400	Weak transcription	GM12878-XiMat	blood
22	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:45508600-45515200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:45508600-45515200	Weak transcription	HSMMtube	muscle
25	chr14:45508600-45515400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:45508600-45530600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:45508800-45515200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:45508800-45515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:45508800-45515400	Weak transcription	Ovary	ovary
30	chr14:45508800-45515400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:45508800-45515600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:45509000-45515200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:45509000-45515200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:45509000-45515400	Weak transcription	Brain Anterior Caudate	brain
35	chr14:45509000-45515400	Weak transcription	Brain Substantia Nigra	brain
36	chr14:45509000-45515400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:45509000-45515400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:45509000-45515400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:45509000-45515600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:45509000-45515800	Weak transcription	Colonic Mucosa	Colon
41	chr14:45509000-45516000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:45509000-45516000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:45509000-45523000	Weak transcription	Brain Germinal Matrix	brain
44	chr14:45509000-45541400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:45509200-45515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:45509200-45515200	Weak transcription	Primary B cells from cord blood	blood
47	chr14:45509200-45515200	Weak transcription	Brain Angular Gyrus	brain
48	chr14:45509200-45515200	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:45509200-45515200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:45509200-45515200	Weak transcription	Left Ventricle	heart

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