Variant report

Variant	esv1792113
Chromosome Location	chr7:21271536-21298108
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:21295823..21296612-chr7:21806734..21807628,5	MCF-7	breast:
2	chr7:21295558..21297041-chr7:21546961..21547892,8	MCF-7	breast:
3	chr7:21295299..21296544-chr7:21806799..21807582,4	MCF-7	breast:
4	chr7:21275897..21278254-chr7:21279911..21281595,2	K562	blood:
5	chr7:21295642..21296533-chr7:21730063..21731012,2	MCF-7	breast:
6	chr7:21028658..21031192-chr7:21285950..21288687,2	MCF-7	breast:
7	chr7:21275897..21278254-chr7:21279911..21281595,2	K562	blood:
8	chr7:21275897..21278958-chr7:21279665..21281595,3	K562	blood:
9	chr7:20818510..20819378-chr7:21290548..21291328,2	MCF-7	breast:
10	chr7:21295635..21296507-chr7:21543400..21544219,4	MCF-7	breast:
11	chr7:21063002..21063945-chr7:21290594..21291415,2	MCF-7	breast:
12	chr7:21275897..21278958-chr7:21279665..21281595,3	K562	blood:
13	chr7:20817351..20817907-chr7:21293750..21294298,2	MCF-7	breast:
14	chr7:20817508..20818647-chr7:21290581..21291699,4	MCF-7	breast:
15	chr7:21295985..21296573-chr7:21806634..21807524,2	K562	blood:
16	chr7:20817346..20818628-chr7:21292935..21294499,9	MCF-7	breast:
17	chr7:21295791..21296620-chr7:21543187..21544067,3	MCF-7	breast:
18	chr7:21262918..21264916-chr7:21270972..21272525,2	K562	blood:
19	chr7:20817281..20817839-chr7:21295508..21296131,2	MCF-7	breast:
20	chr7:21294973..21295548-chr7:21546946..21547528,2	MCF-7	breast:
21	chr7:21296848..21297500-chr7:21543435..21544203,2	MCF-7	breast:
22	chr7:21030941..21031589-chr7:21290459..21291400,3	MCF-7	breast:
23	chr7:21030959..21031728-chr7:21293405..21294297,3	MCF-7	breast:
24	chr7:21030868..21031815-chr7:21293621..21294401,4	MCF-7	breast:

No data

Extended variants
information (count: 706 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183738651	chr7:21278016-21278017	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs549745899	chr7:21278017-21278018	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs563221172	chr7:21278039-21278040	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs114037232	chr7:21278049-21278050	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs188487465	chr7:21278056-21278057	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs78273305	chr7:21278059-21278060	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs4719655	chr7:21278081-21278082	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs193146287	chr7:21278112-21278113	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs62441264	chr7:21278127-21278128	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs144153615	chr7:21278140-21278141	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs11770233	chr7:21278141-21278142	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567056009	chr7:21278150-21278151	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs529529955	chr7:21278155-21278156	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs548874042	chr7:21278188-21278189	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs549664555	chr7:21278193-21278194	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs371654658	chr7:21278196-21278197	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs567951212	chr7:21278208-21278209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182673829	chr7:21278264-21278265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186856154	chr7:21278281-21278282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570603458	chr7:21278300-21278301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191286125	chr7:21278314-21278315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552845938	chr7:21278318-21278319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573015979	chr7:21278359-21278360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541723975	chr7:21278360-21278361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10240952	chr7:21278363-21278364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375588170	chr7:21278379-21278380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533960726	chr7:21278403-21278404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116849528	chr7:21278443-21278444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542813196	chr7:21278475-21278476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544239330	chr7:21278483-21278484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561102321	chr7:21278554-21278555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570888535	chr7:21278582-21278583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540348160	chr7:21278585-21278586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs36071828	chr7:21278630-21278631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35219784	chr7:21278702-21278703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75085386	chr7:21278704-21278705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560444297	chr7:21278780-21278781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4721999	chr7:21278841-21278842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183520676	chr7:21278847-21278848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17144105	chr7:21278862-21278863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569584397	chr7:21278896-21278897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146514348	chr7:21278900-21278901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550556007	chr7:21278930-21278931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570467041	chr7:21278932-21278933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539512944	chr7:21278941-21278942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62441286	chr7:21279048-21279049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553049061	chr7:21279052-21279053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541434948	chr7:21279078-21279079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566533984	chr7:21279117-21279118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535687706	chr7:21279172-21279173	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21278000-21278200	Bivalent Enhancer	Aorta	Aorta
2	chr7:21278200-21279200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:21282600-21283400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:21282800-21283200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:21282800-21283400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:21282800-21283600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:21282800-21283600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:21283200-21284400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:21283400-21289400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:21283600-21290800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:21284400-21289600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:21288600-21288800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:21288800-21290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:21289400-21290200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:21289400-21291200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:21289600-21290200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:21289600-21290800	Enhancers	Brain Germinal Matrix	brain
18	chr7:21289600-21291800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:21289600-21292000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:21289600-21292400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:21289600-21292600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:21289600-21293600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:21289800-21293600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:21290000-21290200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:21290000-21290200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:21290200-21290400	Bivalent Enhancer	Fetal Lung	lung
27	chr7:21290200-21290800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:21290200-21291200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr7:21290200-21291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:21290600-21291200	Bivalent Enhancer	Fetal Brain Male	brain
31	chr7:21290600-21291400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:21290600-21292600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:21290800-21291000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:21290800-21291200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:21290800-21291200	Enhancers	HepG2	liver
36	chr7:21290800-21291400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:21290800-21291600	Bivalent Enhancer	Brain Germinal Matrix	brain
38	chr7:21290800-21292000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:21291000-21291200	Bivalent Enhancer	Fetal Lung	lung
40	chr7:21291000-21291400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:21291200-21293200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:21291200-21293600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:21291400-21293000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:21291400-21294600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:21291600-21291800	Enhancers	Brain Germinal Matrix	brain
46	chr7:21291600-21292200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:21291800-21293400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:21292000-21292200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:21292000-21292200	Enhancers	Brain Germinal Matrix	brain
50	chr7:21292000-21293200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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