Variant report

Variant	nsv971196
Chromosome Location	chr7:124892350-124896473
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	chr7:124885290..124887904-chr7:124890626..124892616,2	MCF-7	breast:
2	chr7:124878093..124880264-chr7:124889805..124892447,2	MCF-7	breast:

Extended variants
information (count: 139 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10248570	chr7:124892420-124892421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550427456	chr7:124892428-124892429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575364575	chr7:124892442-124892443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111750261	chr7:124892445-124892446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77142582	chr7:124892484-124892485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546389293	chr7:124892589-124892590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11765947	chr7:124892627-124892628	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149296778	chr7:124892641-124892642	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558555305	chr7:124892655-124892656	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78912244	chr7:124892665-124892666	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537760489	chr7:124892708-124892709	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557640392	chr7:124892732-124892733	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565099658	chr7:124892744-124892745	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186030952	chr7:124892777-124892778	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574293081	chr7:124892779-124892780	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144525968	chr7:124892831-124892832	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563173504	chr7:124892841-124892842	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117297190	chr7:124892916-124892917	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573315970	chr7:124892980-124892981	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545157767	chr7:124893017-124893018	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565297291	chr7:124893085-124893086	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191443652	chr7:124893088-124893089	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548817723	chr7:124893105-124893106	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550467017	chr7:124893118-124893119	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562225918	chr7:124893133-124893134	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529930178	chr7:124893164-124893165	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546822132	chr7:124893175-124893176	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566531854	chr7:124893194-124893195	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527792938	chr7:124893205-124893206	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547911489	chr7:124893253-124893254	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538741108	chr7:124893254-124893255	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117731988	chr7:124893268-124893269	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13244358	chr7:124893275-124893276	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541330724	chr7:124893286-124893287	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568870405	chr7:124893292-124893293	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183754555	chr7:124893296-124893297	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186162318	chr7:124893358-124893359	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574432421	chr7:124893429-124893430	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386717512	chr7:124893520-124893521	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116569346	chr7:124893522-124893523	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573322979	chr7:124893571-124893572	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547814508	chr7:124893594-124893595	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139321773	chr7:124893601-124893602	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575248991	chr7:124893623-124893624	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569156267	chr7:124893634-124893635	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1427579	chr7:124893698-124893699	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12706645	chr7:124893729-124893730	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552317051	chr7:124893732-124893733	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373498534	chr7:124893768-124893769	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202179248	chr7:124893781-124893782	Genic enhancers Weak 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
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
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

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124871200-124892800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:124881800-124892600	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:124883600-124893000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:124885600-124894800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:124887400-124898000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:124888400-124892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:124891000-124895600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:124892200-124892400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr7:124892200-124893400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:124892400-124893400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:124892400-124896000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:124892600-124896000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:124892800-124893800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:124892800-124894200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:124892800-124898000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:124893000-124893800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:124893000-124893800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:124893000-124894000	Enhancers	HMEC	breast
19	chr7:124893200-124894000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:124893200-124895400	Enhancers	NHEK	skin
21	chr7:124893400-124893600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:124893400-124893800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:124893400-124893800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:124893400-124894200	Enhancers	Fetal Heart	heart
25	chr7:124893600-124893800	Enhancers	Pancreas	Pancrea
26	chr7:124893600-124894000	Enhancers	Fetal Lung	lung
27	chr7:124893600-124895000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:124893800-124894400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:124893800-124894800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:124893800-124894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:124894000-124894400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:124894000-124894400	Weak transcription	HMEC	breast
33	chr7:124894000-124895000	Weak transcription	Fetal Lung	lung
34	chr7:124894200-124894400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:124894200-124895200	Weak transcription	Fetal Heart	heart
36	chr7:124894200-124895600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:124894400-124895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:124894400-124895000	Enhancers	HMEC	breast
39	chr7:124894400-124895200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:124894800-124895400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:124894800-124896200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:124894800-124896200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:124895000-124896200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:124895000-124897600	Enhancers	Fetal Lung	lung
45	chr7:124895000-124897800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:124895200-124895600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:124895200-124898800	Enhancers	Fetal Heart	heart
48	chr7:124895400-124895600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:124895400-124895800	Weak transcription	NHEK	skin
50	chr7:124895600-124895800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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