Variant report

Variant	esv3340690
Chromosome Location	chr7:125458550-125490533
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	chr7:125459178..125461778-chr7:125471242..125473065,2	K562	blood:
2	chr7:125458557..125461124-chr7:125464853..125467696,3	K562	blood:
3	chr3:189159456..189161667-chr7:125457789..125460538,2	MCF-7	breast:
4	chr7:125480828..125483147-chr7:125484662..125486648,3	K562	blood:
5	chr7:125458557..125461124-chr7:125464853..125467696,2	K562	blood:
6	chr7:125392984..125395323-chr7:125485232..125486912,2	K562	blood:
7	chr7:125458557..125461124-chr7:125464853..125467696,2	K562	blood:
8	chr7:125449848..125452738-chr7:125466258..125468115,2	K562	blood:
9	chr7:125466756..125469484-chr9:139938867..139941802,2	MCF-7	breast:
10	chr7:125458557..125461124-chr7:125464853..125467696,3	K562	blood:
11	chr7:125480828..125483147-chr7:125484662..125486648,3	K562	blood:
12	chr7:125459178..125461778-chr7:125471242..125473065,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107281	chromatin interactions

Extended variants
information (count: 813 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192355037	chr7:125458552-125458553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568051808	chr7:125458570-125458571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535160639	chr7:125458616-125458617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557057869	chr7:125458620-125458621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575091700	chr7:125458650-125458651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545621197	chr7:125458721-125458722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4731269	chr7:125458751-125458752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76268255	chr7:125458771-125458772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376925965	chr7:125458812-125458813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568903831	chr7:125458814-125458815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183912890	chr7:125458863-125458864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561884558	chr7:125458878-125458879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529330939	chr7:125458915-125458916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544379801	chr7:125458916-125458917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563002151	chr7:125458945-125458946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188851666	chr7:125458989-125458990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371292828	chr7:125458990-125458991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533554304	chr7:125459046-125459047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115850927	chr7:125459050-125459051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146460880	chr7:125459057-125459058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79836035	chr7:125459071-125459072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7798634	chr7:125459093-125459094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550732173	chr7:125459152-125459153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567953267	chr7:125459228-125459229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535480194	chr7:125459250-125459251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569210633	chr7:125459252-125459253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528749185	chr7:125459262-125459263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547341614	chr7:125459265-125459266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534189392	chr7:125459311-125459312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568645085	chr7:125459346-125459347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371889346	chr7:125459348-125459349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554362546	chr7:125459371-125459372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117828724	chr7:125459391-125459392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539573683	chr7:125459443-125459444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60993707	chr7:125459494-125459495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576073382	chr7:125459597-125459598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75532518	chr7:125459604-125459605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139014146	chr7:125459611-125459612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184449325	chr7:125459630-125459631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573930149	chr7:125459674-125459675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10228294	chr7:125459702-125459703	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs10257597	chr7:125459724-125459725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117111297	chr7:125459742-125459743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11761342	chr7:125459761-125459762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188502293	chr7:125459778-125459779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527924466	chr7:125459791-125459792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201180791	chr7:125459884-125459885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199705662	chr7:125459885-125459886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191498163	chr7:125459931-125459932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184028136	chr7:125459936-125459937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125456000-125459600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:125459600-125459800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:125459800-125460200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:125460200-125460800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:125472600-125481800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:125474000-125474800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:125481800-125482000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:125486400-125486600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:125486800-125489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:125487000-125487600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr7:125487400-125487600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr7:125487400-125487800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr7:125487400-125488400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr7:125487600-125488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:125487600-125488200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:125487600-125488200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:125487600-125488400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:125487600-125488600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:125487600-125488600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:125487800-125488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:125488000-125488200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:125488000-125488400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:125488200-125488400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:125488200-125488400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:125488200-125488600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:125488200-125488800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:125488400-125488600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:125488400-125488600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:125488400-125488800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:125488400-125488800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:125488400-125491400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:125488800-125489000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:125488800-125490200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:125490200-125490600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:125490400-125490600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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