Variant report

Variant	esv2506236
Chromosome Location	chr14:21952194-21955404
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	CEBPB	chr14:21954795-21955377	IMR90	lung:	n/a	chr14:21955213-21955224 chr14:21955212-21955223
2	CEBPB	chr14:21955145-21955321	HepG2	liver:	n/a	chr14:21955213-21955224 chr14:21955212-21955223
3	MAZ	chr14:21954957-21954961	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:21953086-21953226	H1-hESC	embryonic stem cell:	n/a	n/a
5	STAT3	chr14:21955386-21955421	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21948837..21951421-chr14:21953212..21956640,4	MCF-7	breast:
2	chr14:21953304..21957637-chr14:21977622..21980273,4	K562	blood:
3	chr14:21941797..21947093-chr14:21954513..21961521,11	MCF-7	breast:
4	chr14:21942911..21947036-chr14:21948493..21952401,7	MCF-7	breast:
5	chr14:21950181..21952493-chr14:21954450..21957059,4	MCF-7	breast:
6	chr14:21954693..21956685-chr14:21971149..21973765,2	MCF-7	breast:

Variant related genes	Relation type
TOX4	TF binding region
ENSG00000092203	chromatin interactions
ENSG00000129472	chromatin interactions
ENSG00000165819	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140141455	chr14:21952291-21952292	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572477747	chr14:21952303-21952304	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554124009	chr14:21952311-21952312	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558292419	chr14:21952314-21952315	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs143880698	chr14:21952316-21952317	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs372840782	chr14:21952372-21952373	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562496105	chr14:21952385-21952386	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531317002	chr14:21952410-21952411	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188609901	chr14:21952435-21952436	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561649479	chr14:21952452-21952453	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527332070	chr14:21952465-21952466	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150275228	chr14:21952487-21952488	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112285388	chr14:21952504-21952505	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111822267	chr14:21952514-21952515	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533570141	chr14:21952519-21952520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78169427	chr14:21952526-21952527	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559016891	chr14:21952567-21952568	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547282517	chr14:21952590-21952591	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570614306	chr14:21952617-21952618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533101748	chr14:21952682-21952683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549640647	chr14:21952709-21952710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192623636	chr14:21952711-21952712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11845803	chr14:21952729-21952730	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs61973221	chr14:21952746-21952747	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs566051238	chr14:21952766-21952767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142588884	chr14:21952773-21952774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184369843	chr14:21952790-21952791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558116208	chr14:21952813-21952814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138929765	chr14:21952831-21952832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578202215	chr14:21952846-21952847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560757528	chr14:21952927-21952928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111891087	chr14:21953030-21953031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557701979	chr14:21953051-21953052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574360174	chr14:21953093-21953094	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs112900011	chr14:21953158-21953159	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs73581427	chr14:21953301-21953302	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79308491	chr14:21953341-21953342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190482391	chr14:21953342-21953343	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541115298	chr14:21953350-21953351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564151233	chr14:21953403-21953404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532943158	chr14:21953430-21953431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150051183	chr14:21953458-21953459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34471507	chr14:21953487-21953488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547554058	chr14:21953505-21953506	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34647735	chr14:21953514-21953515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200427033	chr14:21953515-21953516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182024825	chr14:21953653-21953654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529114348	chr14:21953665-21953666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549151335	chr14:21953695-21953696	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566064134	chr14:21953712-21953713	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ewing''s sarcoma	18628472	CNVD
Rheumatoid arthritis	23223014	CNVD
Ependymoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21946000-21960600	Weak transcription	Small Intestine	intestine
2	chr14:21946200-21955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:21946200-21955600	Weak transcription	Gastric	stomach
4	chr14:21946200-21955600	Weak transcription	Left Ventricle	heart
5	chr14:21946200-21955600	Weak transcription	Ovary	ovary
6	chr14:21946200-21955600	Weak transcription	Thymus	Thymus
7	chr14:21946200-21977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:21946400-21952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:21946400-21952800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:21946400-21955400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:21946400-21955600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:21946400-21958000	Weak transcription	Pancreas	Pancrea
13	chr14:21946400-21958800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:21946400-21960800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:21946400-21971400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:21946600-21954600	Weak transcription	HSMMtube	muscle
17	chr14:21946600-21954800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:21946600-21954800	Weak transcription	K562	blood
19	chr14:21946600-21955000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:21946600-21955000	Weak transcription	Fetal Thymus	thymus
21	chr14:21946600-21955400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:21946600-21955400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:21946600-21955600	Weak transcription	Brain Germinal Matrix	brain
24	chr14:21946600-21955600	Weak transcription	Colonic Mucosa	Colon
25	chr14:21946600-21955600	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:21946600-21955600	Weak transcription	Psoas Muscle	Psoas
27	chr14:21946600-21955600	Weak transcription	Right Ventricle	heart
28	chr14:21946600-21955600	Weak transcription	Spleen	Spleen
29	chr14:21946600-21955800	Weak transcription	Fetal Brain Female	brain
30	chr14:21946600-21958000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:21946600-21960400	Weak transcription	Stomach Mucosa	stomach
32	chr14:21946600-21960800	Weak transcription	Aorta	Aorta
33	chr14:21946800-21954600	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:21946800-21954800	Weak transcription	Osteobl	bone
35	chr14:21946800-21955000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:21946800-21955400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:21946800-21955600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:21946800-21955600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:21946800-21955600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:21946800-21955600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:21946800-21955600	Weak transcription	A549	lung
42	chr14:21946800-21955600	Weak transcription	GM12878-XiMat	blood
43	chr14:21946800-21955600	Weak transcription	NHEK	skin
44	chr14:21946800-21956200	Weak transcription	NH-A	brain
45	chr14:21946800-21956400	Weak transcription	Hela-S3	cervix
46	chr14:21946800-21956800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:21946800-21956800	Weak transcription	Brain Angular Gyrus	brain
48	chr14:21946800-21956800	Weak transcription	HMEC	breast
49	chr14:21946800-21959000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:21946800-21959000	Weak transcription	Fetal Brain Male	brain

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