Variant report

Variant	esv1008552
Chromosome Location	chr7:125574429-125585512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
2	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:

Extended variants
information (count: 493 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531335288	chr7:125574437-125574438	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181795267	chr7:125574452-125574453	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564985942	chr7:125574457-125574458	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539174473	chr7:125574459-125574460	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186385303	chr7:125574466-125574467	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79255158	chr7:125574477-125574478	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565947333	chr7:125574486-125574487	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141579136	chr7:125574507-125574508	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548176451	chr7:125574522-125574523	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569670916	chr7:125574554-125574555	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537056908	chr7:125574561-125574562	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190459360	chr7:125574571-125574572	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111960145	chr7:125574580-125574581	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200361467	chr7:125574604-125574605	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78979976	chr7:125574609-125574610	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551267613	chr7:125574652-125574653	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563247008	chr7:125574659-125574660	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146176002	chr7:125574695-125574696	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574826458	chr7:125574736-125574737	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73434414	chr7:125574750-125574751	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs200943112	chr7:125574804-125574805	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576072801	chr7:125574809-125574810	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181691053	chr7:125574825-125574826	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139444745	chr7:125574831-125574832	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186982110	chr7:125574850-125574851	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547562300	chr7:125574856-125574857	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528214369	chr7:125574882-125574883	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191015750	chr7:125574909-125574910	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183318603	chr7:125574928-125574929	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146160726	chr7:125574936-125574937	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555599397	chr7:125574940-125574941	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187500679	chr7:125574941-125574942	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144130524	chr7:125574971-125574972	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530788810	chr7:125574986-125574987	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552183854	chr7:125574988-125574989	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570909826	chr7:125575041-125575042	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571379523	chr7:125575110-125575111	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113623227	chr7:125575132-125575133	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553433429	chr7:125575138-125575139	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148652881	chr7:125575148-125575149	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536068206	chr7:125575214-125575215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142877327	chr7:125575222-125575223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16871551	chr7:125575274-125575275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73233398	chr7:125575284-125575285	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs59815764	chr7:125575300-125575301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200570786	chr7:125575302-125575303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550475058	chr7:125575312-125575313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397970834	chr7:125575317-125575318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9649492	chr7:125575333-125575334	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576870336	chr7:125575347-125575348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125567800-125581600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125568000-125576400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:125568800-125581400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:125572000-125575400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:125573400-125575000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:125573600-125575200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr7:125573600-125575400	Enhancers	Hela-S3	cervix
8	chr7:125573600-125583200	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr7:125574000-125597400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:125574400-125574800	Enhancers	HMEC	breast
11	chr7:125574400-125575000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:125574600-125575200	Enhancers	NHEK	skin
13	chr7:125575000-125581600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:125575200-125578200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:125575400-125577200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:125576400-125577200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:125577200-125577800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:125577200-125578600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr7:125577800-125578600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr7:125578200-125578600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:125578200-125578800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:125578600-125580400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:125578600-125581600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:125578800-125579800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr7:125579800-125581200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:125580400-125583200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr7:125581200-125583200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr7:125581600-125582200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr7:125581600-125582400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:125581600-125582800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr7:125582000-125583000	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr7:125582400-125596600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:125582800-125596400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:125583200-125584800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:125583200-125586800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:125583200-125596400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:125583600-125586000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:125584800-125587400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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