Variant report

Variant	esv2617264
Chromosome Location	chr14:21913307-21914852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21913845..21918012-chr14:21919137..21925327,7	MCF-7	breast:
2	chr14:21907278..21910254-chr14:21912129..21914781,3	K562	blood:
3	chr14:21901445..21907192-chr14:21911420..21916597,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100888	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552598714	chr14:21913311-21913312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563192021	chr14:21913414-21913415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139250550	chr14:21913455-21913456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142465479	chr14:21913456-21913457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550529821	chr14:21913459-21913460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566896104	chr14:21913487-21913488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568148591	chr14:21913490-21913491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61973192	chr14:21913532-21913533	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146352209	chr14:21913564-21913565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139716332	chr14:21913605-21913606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370082456	chr14:21913630-21913631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190895337	chr14:21913671-21913672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558621657	chr14:21913679-21913680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113381129	chr14:21913721-21913722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377689141	chr14:21913809-21913810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370115844	chr14:21913814-21913815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554968228	chr14:21913823-21913824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574848899	chr14:21913956-21913957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540740427	chr14:21914031-21914032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554260878	chr14:21914051-21914052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372744417	chr14:21914067-21914068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189328550	chr14:21914069-21914070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534841852	chr14:21914088-21914089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577559172	chr14:21914091-21914092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546367519	chr14:21914096-21914097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563068778	chr14:21914113-21914114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145424980	chr14:21914144-21914145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542124383	chr14:21914152-21914153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553495748	chr14:21914153-21914154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529598050	chr14:21914158-21914159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79582219	chr14:21914165-21914166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183486410	chr14:21914177-21914178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs58981052	chr14:21914195-21914196	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188333678	chr14:21914206-21914207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532242841	chr14:21914212-21914213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142296329	chr14:21914213-21914214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192065987	chr14:21914214-21914215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151248252	chr14:21914241-21914242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542798224	chr14:21914307-21914308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567062837	chr14:21914334-21914335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554918435	chr14:21914346-21914347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182882302	chr14:21914384-21914385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188394717	chr14:21914402-21914403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201191137	chr14:21914465-21914466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs80262219	chr14:21914473-21914474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530107604	chr14:21914476-21914477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71112587	chr14:21914477-21914478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs202209075	chr14:21914478-21914479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201299160	chr14:21914479-21914480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs398024520	chr14:21914492-21914493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ewing''s sarcoma	18628472	CNVD
Rheumatoid arthritis	23223014	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21906000-21923400	Weak transcription	Aorta	Aorta
2	chr14:21906200-21914800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:21906200-21916400	Weak transcription	GM12878-XiMat	blood
4	chr14:21906200-21916600	Weak transcription	Small Intestine	intestine
5	chr14:21906200-21917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:21906200-21917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:21906200-21917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:21906200-21917600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:21906200-21917600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:21906200-21917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:21906200-21918000	Weak transcription	HUVEC	blood vessel
12	chr14:21906200-21918600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:21906200-21918600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:21906200-21918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:21906200-21918600	Weak transcription	NH-A	brain
16	chr14:21906200-21919800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:21906200-21921200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:21906200-21921200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:21906200-21921200	Weak transcription	Fetal Brain Female	brain
20	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:21906200-21921400	Weak transcription	Hela-S3	cervix
23	chr14:21906200-21921600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:21906200-21921600	Weak transcription	NHLF	lung
25	chr14:21906200-21922000	Weak transcription	Psoas Muscle	Psoas
26	chr14:21906200-21922400	Weak transcription	Right Atrium	heart
27	chr14:21906200-21922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:21906200-21922400	Weak transcription	Osteobl	bone
29	chr14:21906200-21923000	Weak transcription	Thymus	Thymus
30	chr14:21906200-21923000	Weak transcription	HSMMtube	muscle
31	chr14:21906400-21914600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:21906400-21915200	Weak transcription	Primary T cells from cord blood	blood
33	chr14:21906400-21915200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:21906400-21915400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:21906400-21916000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:21906400-21916200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:21906400-21916800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:21906400-21917400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:21906400-21917600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:21906400-21917600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:21906400-21917800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:21906400-21919800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr14:21906400-21920000	Weak transcription	Fetal Stomach	stomach
44	chr14:21906400-21920200	Weak transcription	Fetal Intestine Small	intestine
45	chr14:21906400-21920600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:21906400-21921200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:21906400-21921800	Weak transcription	HSMM	muscle
48	chr14:21906400-21922200	Weak transcription	Brain Germinal Matrix	brain
49	chr14:21906400-21922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:21906400-21922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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