Variant report

Variant	esv996460
Chromosome Location	chr14:67984105-67984741
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	chr14:67983980-67984130	SAEC	small airway:	n/a	n/a
2	CTCF	chr14:67984020-67984170	HCM	heart:	n/a	n/a
3	CTCF	chr14:67983918-67984105	HepG2	liver:	n/a	n/a
4	CTCF	chr14:67983869-67984128	NHEK	skin:	n/a	n/a
5	CTCF	chr14:67983960-67984110	HRE	kidney:	n/a	n/a
6	CTCF	chr14:67983835-67984108	T-47D	breast:	n/a	n/a
7	CTCF	chr14:67983836-67984218	K562	blood:	n/a	n/a
8	CTCF	chr14:67984020-67984170	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr14:67983885-67984156	IMR90	lung:	n/a	n/a
10	CTCF	chr14:67983806-67984148	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:67983960-67984110	AG09309	skin:	n/a	n/a
12	CTCF	chr14:67983872-67984123	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:67983960-67984110	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr14:67983960-67984110	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr14:67983960-67984110	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr14:67983913-67984105	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr14:67983960-67984110	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr14:67983960-67984110	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr14:67983960-67984110	HCT-116	colon:	n/a	n/a
20	CTCF	chr14:67983917-67984126	K562	blood:	n/a	n/a
21	CTCF	chr14:67983866-67984148	A549	lung:	n/a	n/a
22	CTCF	chr14:67983940-67984170	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr14:67983886-67984106	Fibrobl	skin:	n/a	n/a
24	MAZ	chr14:67984468-67984641	HepG2	liver:	n/a	n/a
25	RAD21	chr14:67983751-67984196	HCT-116	colon:	n/a	chr14:67983924-67983936
26	RAD21	chr14:67983862-67984187	IMR90	lung:	n/a	chr14:67983924-67983936
27	RAD21	chr14:67983771-67984206	ECC-1	luminal epithelium:	n/a	chr14:67983924-67983936
28	RAD21	chr14:67983732-67984196	H1-hESC	embryonic stem cell:	n/a	chr14:67983924-67983936
29	RAD21	chr14:67983866-67984111	HepG2	liver:	n/a	chr14:67983924-67983936
30	RAD21	chr14:67983785-67984220	HepG2	liver:	n/a	chr14:67983924-67983936
31	RAD21	chr14:67983843-67984167	H1-hESC	embryonic stem cell:	n/a	chr14:67983924-67983936
32	RAD21	chr14:67983913-67984147	SK-N-SH_RA	brain:	n/a	chr14:67983924-67983936
33	RAD21	chr14:67983808-67984117	HepG2	liver:	n/a	chr14:67983924-67983936
34	RAD21	chr14:67983872-67984179	MCF-7	breast:	n/a	chr14:67983924-67983936
35	RAD21	chr14:67983807-67984221	A549	lung:	n/a	chr14:67983924-67983936
36	RAD21	chr14:67983922-67984106	K562	blood:	n/a	chr14:67983924-67983936
37	RAD21	chr14:67983718-67984215	HCT-116	colon:	n/a	chr14:67983924-67983936
38	RAD21	chr14:67983747-67984196	MCF-7	breast:	n/a	chr14:67983924-67983936
39	RAD21	chr14:67983788-67984176	SK-N-SH_RA	brain:	n/a	chr14:67983924-67983936
40	RAD21	chr14:67983831-67984196	H1-hESC	embryonic stem cell:	n/a	chr14:67983924-67983936
41	ZNF143	chr14:67983885-67984121	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67982264..67984804-chr14:68036407..68038355,2	MCF-7	breast:
2	chr14:67983855..67986237-chr14:67998798..68001170,2	K562	blood:
3	chr14:67984335..67987538-chr14:67998612..68001449,4	MCF-7	breast:
4	chr14:67953824..67955734-chr14:67983233..67985363,2	MCF-7	breast:
5	chr14:67958532..67960462-chr14:67983895..67986078,2	MCF-7	breast:
6	chr14:67983896..67986745-chr14:68000053..68001873,3	MCF-7	breast:
7	chr14:67984380..67986731-chr14:67988882..67991536,2	K562	blood:
8	chr14:67984594..67987066-chr14:68011805..68015466,3	MCF-7	breast:

Variant related genes	Relation type
TMEM229B	TF binding region
ENSG00000198133	chromatin interactions
ENSG00000054690	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7144333	chr14:67984105-67984106	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564627272	chr14:67984106-67984107	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs7144624	chr14:67984109-67984110	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148404078	chr14:67984141-67984142	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs1555399	chr14:67984370-67984371	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
6	rs1555398	chr14:67984373-67984374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73272305	chr14:67984396-67984397	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566537310	chr14:67984416-67984417	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184674829	chr14:67984475-67984476	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs575045501	chr14:67984513-67984514	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs1555397	chr14:67984540-67984541	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116848385	chr14:67984584-67984585	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs189607990	chr14:67984593-67984594	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs556620143	chr14:67984595-67984596	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs574867361	chr14:67984604-67984605	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs535814968	chr14:67984623-67984624	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs28690091	chr14:67984652-67984653	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs118103964	chr14:67984660-67984661	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs10143518	chr14:67984662-67984663	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs61988217	chr14:67984695-67984696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77281563	chr14:67984706-67984707	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564591394	chr14:67984718-67984719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11621977	chr14:67984737-67984738	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67982600-67999000	Weak transcription	Right Atrium	heart
2	chr14:67982800-67984200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr14:67982800-67984600	Enhancers	Primary B cells from cord blood	blood
4	chr14:67983000-67984200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:67983000-67985400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:67983000-67986200	Enhancers	Fetal Thymus	thymus
7	chr14:67983000-67987400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:67983400-67984200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:67983600-67984400	Enhancers	Brain Substantia Nigra	brain
10	chr14:67983800-67984200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:67983800-67984200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:67983800-67984200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr14:67983800-67985800	Enhancers	Thymus	Thymus
14	chr14:67984000-67984400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:67984000-67988600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:67984000-67988800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:67984000-67988800	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:67984000-67989000	Weak transcription	Brain Angular Gyrus	brain
19	chr14:67984000-67989000	Weak transcription	Brain Anterior Caudate	brain
20	chr14:67984200-67988800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:67984400-67988800	Weak transcription	Brain Substantia Nigra	brain
22	chr14:67984400-67989000	Weak transcription	Brain Inferior Temporal Lobe	brain

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