Variant report

Variant	esv3394718
Chromosome Location	chr7:69194534-69238432
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69217367..69219990-chr7:69230270..69231785,2	MCF-7	breast:
2	chr7:69217367..69219990-chr7:69230270..69231785,2	MCF-7	breast:
3	chr7:69221100..69223201-chr7:69225003..69226739,2	K562	blood:
4	chr4:100993641..100994147-chr7:69228084..69228959,2	MCF-7	breast:
5	chr7:69221100..69223201-chr7:69225003..69226739,2	K562	blood:
6	chr7:69198010..69200817-chr7:69202964..69204701,2	K562	blood:
7	chr15:74657888..74658544-chr7:69197714..69198694,2	Hela-S3	cervix:
8	chr7:69215801..69218748-chr7:69224882..69226979,2	MCF-7	breast:
9	chr7:69198010..69200817-chr7:69202964..69204701,2	K562	blood:
10	chr7:69215801..69218748-chr7:69224882..69226979,2	MCF-7	breast:
11	chr7:69211697..69213251-chr7:69245459..69247066,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140459	chromatin interactions

Extended variants
information (count: 1453 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1453 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557269403	chr7:69194565-69194566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546398446	chr7:69194605-69194606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569218909	chr7:69194668-69194669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145837623	chr7:69194700-69194701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138672649	chr7:69194864-69194865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573213014	chr7:69194882-69194883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540745417	chr7:69194883-69194884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532998558	chr7:69194901-69194902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555506077	chr7:69194929-69194930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201092103	chr7:69194955-69194956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573881408	chr7:69194962-69194963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202221746	chr7:69194963-69194964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376025846	chr7:69194965-69194966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371512176	chr7:69194979-69194980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4607489	chr7:69194980-69194981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10684331	chr7:69194981-69194982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575210114	chr7:69195005-69195006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371819722	chr7:69195025-69195026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141127735	chr7:69195083-69195084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577924598	chr7:69195084-69195085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11548461	chr7:69195091-69195092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545435063	chr7:69195116-69195117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564130248	chr7:69195145-69195146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566181679	chr7:69195236-69195237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192957126	chr7:69195239-69195240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184620700	chr7:69195245-69195246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10238704	chr7:69195304-69195305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188627654	chr7:69195344-69195345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113913645	chr7:69195358-69195359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550833447	chr7:69195360-69195361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569135199	chr7:69195364-69195365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117409507	chr7:69195369-69195370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551461722	chr7:69195375-69195376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181693587	chr7:69195380-69195381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186090540	chr7:69195504-69195505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555419772	chr7:69195549-69195550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189616122	chr7:69195554-69195555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5884767	chr7:69195581-69195582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538041498	chr7:69195592-69195593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369855025	chr7:69195625-69195626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556340507	chr7:69195649-69195650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555305937	chr7:69195698-69195699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578166541	chr7:69195765-69195766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545699778	chr7:69195776-69195777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560653628	chr7:69195815-69195816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115717554	chr7:69195816-69195817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539892985	chr7:69195974-69195975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150718135	chr7:69195989-69195990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529009896	chr7:69196049-69196050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550750209	chr7:69196055-69196056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD

Chromatin state (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69185000-69203000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:69192000-69196600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:69193400-69197000	Weak transcription	Ovary	ovary
4	chr7:69193400-69197000	Weak transcription	Psoas Muscle	Psoas
5	chr7:69193400-69202400	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:69193400-69204200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:69193600-69195600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:69193600-69195800	Weak transcription	A549	lung
9	chr7:69193600-69196400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:69193600-69196600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:69193600-69196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:69193600-69196600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:69193600-69196600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:69193600-69196800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:69193600-69197000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:69193800-69196600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:69193800-69203800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:69194000-69196400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:69194000-69196600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:69194000-69197000	Weak transcription	NH-A	brain
21	chr7:69194400-69196600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:69195600-69197000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:69195600-69198200	Enhancers	Stomach Mucosa	stomach
24	chr7:69195800-69196000	Enhancers	Fetal Lung	lung
25	chr7:69195800-69198000	Enhancers	A549	lung
26	chr7:69196000-69198800	Enhancers	Brain Germinal Matrix	brain
27	chr7:69196000-69203000	Weak transcription	Fetal Lung	lung
28	chr7:69196400-69198400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:69196400-69198400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:69196600-69196800	Enhancers	Stomach Smooth Muscle	stomach
31	chr7:69196600-69197400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:69196600-69197600	Enhancers	Colon Smooth Muscle	Colon
33	chr7:69196600-69198000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:69196600-69198000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:69196600-69198000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:69196600-69198200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:69196600-69198400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:69196600-69198600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:69196600-69198600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:69196600-69198600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr7:69196600-69198600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:69196600-69199000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:69196800-69197400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:69196800-69197600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr7:69196800-69198000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr7:69196800-69198400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:69197000-69197400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:69197000-69197400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr7:69197000-69197400	Enhancers	Fetal Stomach	stomach
50	chr7:69197000-69197400	Enhancers	Psoas Muscle	Psoas

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