Variant report

Variant	esv3423875
Chromosome Location	chr14:70797749-70799547
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	chr14:70799364-70799409	Lung_OC	lung:	n/a	n/a
2	FOXA2	chr14:70798842-70799041	HepG2	liver:	n/a	n/a
3	FOXA2	chr14:70798759-70799299	A549	lung:	n/a	n/a
4	POLR2A	chr14:70799248-70799319	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:70799141-70799163	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:70798930-70799390	MCF-7	breast:	n/a	n/a
7	POLR2A	chr14:70799443-70799491	MCF-7	breast:	n/a	n/a
8	POLR2A	chr14:70799075-70799134	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:70799336-70799697	ProgFib	skin:	n/a	n/a
10	POLR2A	chr14:70799505-70799520	MCF-7	breast:	n/a	n/a
11	STAT3	chr14:70798172-70798190	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70798672..70801263-chr14:70804505..70807177,2	K562	blood:
2	chr14:70798472..70800440-chr14:70832228..70834010,2	MCF-7	breast:

Variant related genes	Relation type
COX16	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376001945	chr14:70797787-70797788	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs187386509	chr14:70797849-70797850	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs8010607	chr14:70797875-70797876	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12885170	chr14:70797927-70797928	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs190668114	chr14:70797930-70797931	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546474352	chr14:70797938-70797939	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs527941881	chr14:70797959-70797960	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs372589933	chr14:70797974-70797975	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552472503	chr14:70797975-70797976	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182910303	chr14:70797981-70797982	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs35265562	chr14:70797985-70797986	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs141420669	chr14:70798011-70798012	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs2332420	chr14:70798025-70798026	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371608118	chr14:70798027-70798028	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs535563819	chr14:70798028-70798029	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187099579	chr14:70798058-70798059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs35585577	chr14:70798068-70798069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571922085	chr14:70798070-70798071	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190352613	chr14:70798116-70798117	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs183031833	chr14:70798117-70798118	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs558094517	chr14:70798118-70798119	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200798970	chr14:70798132-70798133	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576448601	chr14:70798140-70798141	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544617933	chr14:70798150-70798151	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562930431	chr14:70798161-70798162	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187659425	chr14:70798179-70798180	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs193164124	chr14:70798180-70798181	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2877670	chr14:70798184-70798185	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529720002	chr14:70798191-70798192	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs370266311	chr14:70798203-70798204	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552410799	chr14:70798205-70798206	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs185380828	chr14:70798217-70798218	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531928456	chr14:70798257-70798258	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs372618321	chr14:70798258-70798259	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs8016418	chr14:70798289-70798290	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs562028378	chr14:70798312-70798313	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs145674230	chr14:70798393-70798394	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535173517	chr14:70798394-70798395	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553835335	chr14:70798397-70798398	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138345502	chr14:70798409-70798410	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539634506	chr14:70798411-70798412	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370594351	chr14:70798459-70798460	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200320645	chr14:70798460-70798461	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs189153039	chr14:70798461-70798462	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs202179078	chr14:70798462-70798463	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192200147	chr14:70798468-70798469	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs558033349	chr14:70798472-70798473	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200326489	chr14:70798536-70798537	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201595793	chr14:70798537-70798538	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183749922	chr14:70798552-70798553	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70783400-70799200	Weak transcription	NHEK	skin
2	chr14:70783600-70798600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:70784000-70801000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:70784200-70800600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:70784600-70798600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:70784800-70798800	Weak transcription	Gastric	stomach
7	chr14:70785400-70799200	Weak transcription	Stomach Mucosa	stomach
8	chr14:70785600-70799000	Weak transcription	Psoas Muscle	Psoas
9	chr14:70786000-70799200	Weak transcription	Pancreas	Pancrea
10	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:70789000-70798600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:70789200-70798600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70789400-70798600	Weak transcription	Fetal Brain Female	brain
14	chr14:70789400-70798600	Weak transcription	Fetal Stomach	stomach
15	chr14:70789400-70798600	Weak transcription	Spleen	Spleen
16	chr14:70789400-70798800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:70789400-70799000	Weak transcription	Right Ventricle	heart
18	chr14:70789800-70798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:70790000-70798600	Weak transcription	Thymus	Thymus
20	chr14:70790200-70798600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:70790400-70799000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:70790400-70799200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:70790600-70798600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:70790600-70798800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:70790600-70799400	Weak transcription	Brain Anterior Caudate	brain
26	chr14:70790800-70798600	Weak transcription	Esophagus	oesophagus
27	chr14:70791000-70798800	Weak transcription	Colonic Mucosa	Colon
28	chr14:70791000-70799800	Weak transcription	Fetal Heart	heart
29	chr14:70791200-70808600	Weak transcription	HUVEC	blood vessel
30	chr14:70791400-70799000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:70791400-70799600	Weak transcription	NHLF	lung
32	chr14:70791600-70799400	Weak transcription	Fetal Brain Male	brain
33	chr14:70792000-70809800	Weak transcription	Hela-S3	cervix
34	chr14:70792200-70798600	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:70792400-70798800	Weak transcription	Lung	lung
36	chr14:70792800-70798200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:70792800-70798600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:70792800-70798600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:70792800-70798600	Weak transcription	Brain Angular Gyrus	brain
40	chr14:70792800-70798600	Weak transcription	Brain Substantia Nigra	brain
41	chr14:70792800-70798800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:70792800-70798800	Weak transcription	A549	lung
43	chr14:70792800-70799400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:70792800-70799400	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:70792800-70801000	Weak transcription	Small Intestine	intestine
46	chr14:70792800-70825200	Weak transcription	NH-A	brain
47	chr14:70793000-70798600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:70793000-70799400	Weak transcription	HSMMtube	muscle
49	chr14:70793200-70799000	Weak transcription	HMEC	breast
50	chr14:70793200-70799200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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