Variant report

Variant	esv1848567
Chromosome Location	chr7:14464118-14579801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:14466276..14469939-chr7:14469961..14472647,3	K562	blood:
2	chr7:14466276..14469939-chr7:14469961..14472647,3	K562	blood:
3	chr7:13934709..13935267-chr7:14497324..14498029,2	MCF-7	breast:
4	chr7:13564462..13565362-chr7:14497193..14498173,5	MCF-7	breast:
5	chr16:25087283..25088036-chr7:14482140..14482806,2	MCF-7	breast:
6	chr7:14531022..14533829-chr7:14539304..14542023,2	K562	blood:
7	chr7:13934057..13934906-chr7:14497131..14498025,4	MCF-7	breast:
8	chr7:14487713..14488501-chrX:20040447..20041022,2	MCF-7	breast:
9	chr7:14531022..14533829-chr7:14539304..14542023,2	K562	blood:
10	chr7:14503536..14506450-chr7:14511181..14513157,3	K562	blood:
11	chr7:14503536..14506450-chr7:14511181..14513157,3	K562	blood:
12	chr7:14028848..14029461-chr7:14497211..14497977,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 2719 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2719 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1431534	chr7:14464118-14464119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540616541	chr7:14464133-14464134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188862878	chr7:14464143-14464144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528923969	chr7:14464147-14464148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542024926	chr7:14464167-14464168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576445651	chr7:14464182-14464183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560659070	chr7:14464183-14464184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562091877	chr7:14464201-14464202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75108832	chr7:14464208-14464209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547761890	chr7:14464219-14464220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181578019	chr7:14464263-14464264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186239954	chr7:14464311-14464312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550171016	chr7:14464383-14464384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570178490	chr7:14464407-14464408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34828133	chr7:14464424-14464425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535904958	chr7:14464427-14464428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200476175	chr7:14464432-14464433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371977872	chr7:14464444-14464445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565728516	chr7:14464469-14464470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189391183	chr7:14464494-14464495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182198921	chr7:14464578-14464579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142208029	chr7:14464584-14464585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185936282	chr7:14464589-14464590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17777395	chr7:14464605-14464606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190811943	chr7:14464630-14464631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542309707	chr7:14464639-14464640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562346045	chr7:14464680-14464681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146149113	chr7:14464694-14464695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529632513	chr7:14464753-14464754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368035109	chr7:14464778-14464779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113511578	chr7:14464819-14464820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564646271	chr7:14464929-14464930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558808870	chr7:14464931-14464932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536005085	chr7:14464947-14464948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550208060	chr7:14464957-14464958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570062050	chr7:14464998-14464999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183065682	chr7:14465032-14465033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372200065	chr7:14465074-14465075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1367778	chr7:14465084-14465085	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138957495	chr7:14465097-14465098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1367777	chr7:14465110-14465111	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557903441	chr7:14465165-14465166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571220273	chr7:14465169-14465170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536896490	chr7:14465170-14465171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556583206	chr7:14465200-14465201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573290708	chr7:14465208-14465209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533832191	chr7:14465230-14465231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7811768	chr7:14465236-14465237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576763746	chr7:14465255-14465256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552770036	chr7:14465314-14465315	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14459600-14465000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:14459600-14465200	Weak transcription	Fetal Heart	heart
3	chr7:14465000-14465400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:14465200-14465600	Enhancers	Fetal Heart	heart
5	chr7:14465400-14470800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:14466800-14470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:14470200-14471000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:14470400-14471000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:14470600-14470800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:14470600-14470800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:14470600-14473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:14470800-14471000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:14471000-14471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:14471000-14471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:14471000-14472200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:14471000-14472400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:14471000-14472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:14471200-14471600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:14471800-14472000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:14471800-14473200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:14472200-14472400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:14472400-14473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:14472400-14473000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:14472400-14473000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:14472600-14473000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:14472600-14473000	Enhancers	Fetal Muscle Leg	muscle
27	chr7:14473200-14473400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:14473200-14479800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:14476000-14476200	Enhancers	Psoas Muscle	Psoas
30	chr7:14477600-14478000	Enhancers	Psoas Muscle	Psoas
31	chr7:14477800-14478400	Enhancers	Fetal Lung	lung
32	chr7:14478400-14478800	Weak transcription	Fetal Lung	lung
33	chr7:14478800-14479200	Enhancers	Fetal Lung	lung
34	chr7:14479800-14480400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:14485600-14486600	Enhancers	Fetal Intestine Small	intestine
36	chr7:14486200-14486800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr7:14486200-14487600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:14486400-14486800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:14486400-14486800	Enhancers	Fetal Intestine Large	intestine
40	chr7:14486400-14487600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:14486600-14487000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:14486600-14487200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:14486600-14487400	Enhancers	Primary T cells from cord blood	blood
44	chr7:14487600-14488200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:14496600-14497200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:14496600-14497600	Enhancers	Fetal Heart	heart
47	chr7:14497000-14497200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:14497000-14497200	Enhancers	Brain Germinal Matrix	brain
49	chr7:14497000-14497200	Enhancers	Brain Hippocampus Middle	brain
50	chr7:14497200-14497400	Active TSS	NH-A	brain

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