Variant report

Variant	esv274964
Chromosome Location	chr7:120522471-120549440
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120537129..120539882-chr7:120590828..120592678,2	K562	blood:
2	chr7:120549323..120551533-chr7:120553466..120555580,2	K562	blood:
3	chr7:120528946..120531316-chr7:120535468..120537463,2	K562	blood:
4	chr7:120546933..120548726-chr7:120560234..120561928,2	K562	blood:
5	chr7:120523074..120525826-chr7:120590742..120592478,2	K562	blood:
6	chr7:120534467..120536521-chr7:120539117..120541286,2	K562	blood:
7	chr7:120548487..120550613-chr7:120604026..120606804,2	K562	blood:
8	chr7:120546601..120548199-chr7:120589910..120591891,2	K562	blood:
9	chr7:120536282..120540168-chr7:120546735..120550656,4	K562	blood:
10	chr7:120547850..120549898-chr7:120568115..120570216,2	K562	blood:
11	chr7:120528946..120531316-chr7:120535468..120537463,2	K562	blood:
12	chr7:120536282..120540168-chr7:120546735..120550656,4	K562	blood:
13	chr7:120531641..120534094-chr7:120717673..120720325,2	K562	blood:
14	chr19:2269083..2270722-chr7:120546754..120549079,2	MCF-7	breast:
15	chr7:120534467..120536521-chr7:120539117..120541286,2	K562	blood:
16	chr7:120546601..120548210-chr7:120589697..120591891,3	K562	blood:
17	chr7:120433218..120435553-chr7:120523019..120525644,2	K562	blood:
18	chr7:120516895..120519430-chr7:120548685..120550943,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104904	chromatin interactions
ENSG00000071243	chromatin interactions
ENSG00000167476	chromatin interactions

Extended variants
information (count: 535 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544629890	chr7:120523113-120523114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4304275	chr7:120523115-120523116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77581571	chr7:120523119-120523120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74996627	chr7:120523251-120523252	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529020511	chr7:120523261-120523262	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75237832	chr7:120523285-120523286	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553345577	chr7:120523311-120523312	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74842630	chr7:120523367-120523368	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528726635	chr7:120523389-120523390	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150865189	chr7:120523413-120523414	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75786276	chr7:120523436-120523437	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs398095331	chr7:120523437-120523438	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571950049	chr7:120523447-120523448	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188730052	chr7:120523508-120523509	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76345526	chr7:120523511-120523512	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192393027	chr7:120523636-120523637	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13231427	chr7:120523641-120523642	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375697017	chr7:120523672-120523673	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567285786	chr7:120523678-120523679	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536227102	chr7:120523691-120523692	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77149646	chr7:120523701-120523702	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566621524	chr7:120523709-120523710	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139414365	chr7:120523736-120523737	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150054766	chr7:120523755-120523756	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369575859	chr7:120523806-120523807	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34410213	chr7:120523818-120523819	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577871399	chr7:120523844-120523845	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543325214	chr7:120523847-120523848	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543226069	chr7:120523908-120523909	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77232359	chr7:120523957-120523958	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183394110	chr7:120523987-120523988	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76920381	chr7:120523997-120523998	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75198687	chr7:120524003-120524004	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559335683	chr7:120524028-120524029	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371370386	chr7:120524029-120524030	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545595740	chr7:120524035-120524036	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565292138	chr7:120524069-120524070	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531248486	chr7:120524075-120524076	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547532493	chr7:120524121-120524122	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs74683592	chr7:120524177-120524178	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73721481	chr7:120524181-120524182	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186613085	chr7:120524198-120524199	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78172519	chr7:120524252-120524253	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566632627	chr7:120524259-120524260	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570643575	chr7:120524265-120524266	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148629431	chr7:120524266-120524267	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62469954	chr7:120524293-120524294	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140347759	chr7:120524306-120524307	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201246368	chr7:120524307-120524308	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538710176	chr7:120524384-120524385	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Myelodysplastic syndrome	21251322	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
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120523200-120525400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:120524200-120524400	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr7:120524400-120524800	Enhancers	Stomach Smooth Muscle	stomach
4	chr7:120524400-120525000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:120524400-120525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:120524400-120525800	Enhancers	Fetal Heart	heart
7	chr7:120525400-120525800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr7:120531200-120536600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:120534400-120534600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:120535400-120535800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:120535400-120536000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:120535800-120540800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:120538200-120538600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:120539000-120539600	Enhancers	Fetal Kidney	kidney
15	chr7:120540800-120541000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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