Variant report

Variant	esv20972
Chromosome Location	chr14:22026513-22035999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:22025598-22026725	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr14:22027039-22027244	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:22026193-22027202	K562	blood:	n/a	n/a
4	CEBPB	chr14:22026170-22026759	MCF-7	breast:	n/a	n/a
5	CEBPB	chr14:22026168-22026694	IMR90	lung:	n/a	n/a
6	CEBPB	chr14:22026932-22027290	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:22026492-22026752	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:22027037-22027185	HepG2	liver:	n/a	n/a
9	CTCF	chr14:22032127-22032217	GM10248	blood:	n/a	n/a
10	CTCF	chr14:22032206-22032265	Lung_OC	lung:	n/a	n/a
11	CTCF	chr14:22026602-22026632	GM19240	blood:	n/a	n/a
12	JUND	chr14:22034723-22034798	K562	blood:	n/a	n/a
13	JUND	chr14:22026675-22026941	K562	blood:	n/a	n/a
14	JUND	chr14:22026692-22026696	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:22028664-22028854	ProgFib	skin:	n/a	n/a
16	POLR2A	chr14:22027285-22027373	GM12878	blood:	n/a	n/a
17	RCOR1	chr14:22026376-22027046	K562	blood:	n/a	n/a
18	UBTF	chr14:22026898-22026950	K562	blood:	n/a	n/a
19	ZNF384	chr14:22031231-22031247	K562	blood:	n/a	n/a
20	ZNF384	chr14:22026375-22027215	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21992702..21995235-chr14:22025851..22027508,2	MCF-7	breast:
2	chr14:21965159..21967752-chr14:22024395..22027094,3	MCF-7	breast:
3	chr14:21979431..21980947-chr14:22025608..22027226,2	K562	blood:
4	chr14:21967474..21971361-chr14:22024015..22027387,4	K562	blood:
5	chr14:21977743..21979409-chr14:22025711..22027311,2	MCF-7	breast:
6	chr14:21922916..21925515-chr14:22024387..22026988,2	K562	blood:
7	chr14:21965103..21966895-chr14:22024708..22027624,2	K562	blood:
8	chr14:21920487..21922839-chr14:22025692..22028469,2	K562	blood:
9	chr14:21924893..21927310-chr14:22025908..22027691,2	MCF-7	breast:
10	chr14:21973675..21975896-chr14:22025670..22027377,2	K562	blood:
11	chr14:21992613..21994991-chr14:22023971..22027172,3	MCF-7	breast:
12	chr14:21978852..21980504-chr14:22026086..22028034,2	MCF-7	breast:
13	chr14:22030267..22032790-chr14:22033659..22035235,2	K562	blood:

No data

Variant related genes	Relation type
RBBP4P5	TF binding region
ENSG00000165821	chromatin interactions
ENSG00000100888	chromatin interactions
ENSG00000165819	chromatin interactions
ENSG00000256737	chromatin interactions

Extended variants
information (count: 417 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553332175	chr14:22026531-22026532	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs201803266	chr14:22026542-22026543	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191589367	chr14:22026623-22026624	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183251497	chr14:22026636-22026637	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs111587934	chr14:22026648-22026649	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs573363101	chr14:22026670-22026671	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs545418383	chr14:22026689-22026690	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs565587119	chr14:22026691-22026692	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575962921	chr14:22026697-22026698	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs140184662	chr14:22026719-22026720	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs563242262	chr14:22026768-22026769	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs78027346	chr14:22026826-22026827	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs538595996	chr14:22026856-22026857	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs549043115	chr14:22026948-22026949	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs559327957	chr14:22026958-22026959	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs528277762	chr14:22027015-22027016	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs77403811	chr14:22027031-22027032	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs138878981	chr14:22027055-22027056	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs571210369	chr14:22027066-22027067	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs187902441	chr14:22027076-22027077	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs149011814	chr14:22027086-22027087	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567305934	chr14:22027108-22027109	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs536375523	chr14:22027138-22027139	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs553423088	chr14:22027144-22027145	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573217080	chr14:22027147-22027148	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs147104260	chr14:22027181-22027182	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs559168144	chr14:22027192-22027193	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs138299986	chr14:22027347-22027348	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs557648682	chr14:22027401-22027402	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544907063	chr14:22027446-22027447	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs143885413	chr14:22027495-22027496	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112717461	chr14:22027555-22027556	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573582439	chr14:22027559-22027560	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs193051794	chr14:22027560-22027561	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12894444	chr14:22027566-22027567	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61971784	chr14:22027572-22027573	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12894577	chr14:22027588-22027589	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375437943	chr14:22027661-22027662	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551182810	chr14:22027673-22027674	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564702922	chr14:22027702-22027703	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190364370	chr14:22027703-22027704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192627711	chr14:22027773-22027774	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567600268	chr14:22027862-22027863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530116079	chr14:22027887-22027888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10141531	chr14:22027900-22027901	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554736431	chr14:22027914-22027915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184144807	chr14:22027949-22027950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539103185	chr14:22028018-22028019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559979763	chr14:22028028-22028029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559231184	chr14:22028044-22028045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ewing''s sarcoma	18628472	CNVD
Ependymoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22018800-22035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22024400-22027000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:22025400-22026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:22025400-22027000	Enhancers	Placenta	Placenta
5	chr14:22025800-22026600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:22025800-22026600	Enhancers	Fetal Brain Male	brain
7	chr14:22025800-22026800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:22025800-22027200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:22026000-22026800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:22026000-22026800	Enhancers	Fetal Muscle Trunk	muscle
11	chr14:22026000-22026800	Enhancers	Fetal Muscle Leg	muscle
12	chr14:22026200-22026600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr14:22026200-22026800	Enhancers	Adipose Nuclei	Adipose
14	chr14:22026400-22026800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:22026400-22026800	Enhancers	K562	blood
16	chr14:22026400-22027000	Flanking Active TSS	HepG2	liver
17	chr14:22026600-22026800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:22026600-22026800	Enhancers	Ovary	ovary
19	chr14:22026600-22027800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:22026800-22027000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:22026800-22027000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:22026800-22027000	Enhancers	Colonic Mucosa	Colon
23	chr14:22026800-22027000	Enhancers	Fetal Kidney	kidney
24	chr14:22026800-22027000	Enhancers	Fetal Lung	lung
25	chr14:22026800-22027200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr14:22026800-22027400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:22026800-22038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:22027000-22027200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:22027000-22027200	Enhancers	HepG2	liver
30	chr14:22035200-22035400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links