Variant report

Variant	esv3439287
Chromosome Location	chr7:137926912-137931110
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:137929429..137931956-chr7:138145009..138148414,3	MCF-7	breast:
2	chr7:137926916..137928434-chr7:137998152..138000341,2	K562	blood:
3	chr7:137878463..137879263-chr7:137929966..137930618,2	MCF-7	breast:
4	chr7:137878389..137879265-chr7:137929966..137930816,6	MCF-7	breast:
5	chr7:137927382..137930242-chr7:137937479..137939560,2	MCF-7	breast:
6	chr7:137928244..137930040-chr7:137931548..137933077,2	K562	blood:
7	chr7:137854218..137856013-chr7:137925326..137928137,2	MCF-7	breast:
8	chr7:137919927..137921486-chr7:137928600..137931150,2	MCF-7	breast:
9	chr7:137917155..137919916-chr7:137928733..137931455,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122779	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540362603	chr7:137926943-137926944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185799345	chr7:137926982-137926983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370413255	chr7:137926989-137926990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191058833	chr7:137927011-137927012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542954061	chr7:137927014-137927015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562740641	chr7:137927071-137927072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563597581	chr7:137927072-137927073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200873562	chr7:137927142-137927143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568081420	chr7:137927143-137927144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551420813	chr7:137927145-137927146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145187797	chr7:137927178-137927179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375150735	chr7:137927211-137927212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527420702	chr7:137927231-137927232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547171894	chr7:137927279-137927280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111837808	chr7:137927280-137927281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535611749	chr7:137927297-137927298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549281438	chr7:137927298-137927299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569179900	chr7:137927305-137927306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2465906	chr7:137927312-137927313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2465907	chr7:137927313-137927314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71793718	chr7:137927333-137927334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56967403	chr7:137927348-137927349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112378845	chr7:137927376-137927377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538134027	chr7:137927385-137927386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558173861	chr7:137927425-137927426	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181873749	chr7:137927434-137927435	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs144787559	chr7:137927446-137927447	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553937536	chr7:137927453-137927454	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs62490714	chr7:137927454-137927455	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528245024	chr7:137927511-137927512	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs542812883	chr7:137927537-137927538	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372092926	chr7:137927550-137927551	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs141899074	chr7:137927573-137927574	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576442541	chr7:137927606-137927607	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10279309	chr7:137927608-137927609	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150636433	chr7:137927609-137927610	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111956482	chr7:137927633-137927634	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527247126	chr7:137927638-137927639	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547479391	chr7:137927651-137927652	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560788216	chr7:137927668-137927669	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529467495	chr7:137927681-137927682	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549199775	chr7:137927683-137927684	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569960572	chr7:137927704-137927705	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551171355	chr7:137927715-137927716	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569098350	chr7:137927745-137927746	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111475159	chr7:137927770-137927771	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539346397	chr7:137927774-137927775	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571285225	chr7:137927783-137927784	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140740039	chr7:137927784-137927785	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536666589	chr7:137927836-137927837	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137905800-137928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:137915000-137931800	Weak transcription	Right Atrium	heart
3	chr7:137921800-137929400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:137924200-137928400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:137924400-137927400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:137924400-137927800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:137924600-137927400	Weak transcription	Liver	Liver
8	chr7:137924600-137927600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:137924600-137928200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:137924600-137929400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:137926000-137927000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:137926600-137927400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:137927000-137927600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:137927400-137927600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:137927400-137927600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:137927400-137927600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:137927400-137927800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:137927400-137927800	Active TSS	Liver	Liver
19	chr7:137927400-137928600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:137927400-137929400	Weak transcription	Ovary	ovary
21	chr7:137927400-137930000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:137927600-137927800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:137927600-137927800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:137927600-137928000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:137927600-137928000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:137927600-137928000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:137927600-137928000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:137927600-137928000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:137927600-137928400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:137927600-137932000	Enhancers	HepG2	liver
31	chr7:137927600-137933200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:137927800-137928000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:137927800-137928000	Weak transcription	Liver	Liver
34	chr7:137927800-137928200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr7:137927800-137928800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:137927800-137930600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:137928000-137928200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr7:137928000-137928200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr7:137928000-137928200	Active TSS	NH-A	brain
40	chr7:137928000-137928400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr7:137928000-137928400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:137928000-137928400	Enhancers	Liver	Liver
43	chr7:137928000-137928400	Enhancers	A549	lung
44	chr7:137928000-137928600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:137928000-137928800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr7:137928000-137932000	Enhancers	Fetal Heart	heart
47	chr7:137928200-137928400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:137928200-137928400	Enhancers	Fetal Intestine Large	intestine
49	chr7:137928200-137928400	Enhancers	K562	blood
50	chr7:137928200-137928600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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