Variant report

Variant	nsv1019532
Chromosome Location	chr7:71676605-71714246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:64494077..64494875-chr7:71705794..71706323,2	MCF-7	breast:
2	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:
3	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:

Variant related genes	Relation type
ENSG00000207190	chromatin interactions

Extended variants
information (count: 1839 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1839 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116936592	chr7:71676620-71676621	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138710024	chr7:71676666-71676667	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75356443	chr7:71676685-71676686	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532925924	chr7:71676759-71676760	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75141388	chr7:71676800-71676801	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548613	chr7:71676810-71676811	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529750981	chr7:71676840-71676841	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188127355	chr7:71676849-71676850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373869439	chr7:71676851-71676852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180896433	chr7:71676868-71676869	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549849657	chr7:71676893-71676894	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571693075	chr7:71676894-71676895	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371843099	chr7:71676948-71676949	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544015	chr7:71676949-71676950	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573048837	chr7:71676950-71676951	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533857448	chr7:71676955-71676956	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117540315	chr7:71676974-71676975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573857476	chr7:71676980-71676981	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11770441	chr7:71677011-71677012	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147476553	chr7:71677047-71677048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552025015	chr7:71677059-71677060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117589261	chr7:71677060-71677061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187081012	chr7:71677065-71677066	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192355659	chr7:71677070-71677071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527959483	chr7:71677075-71677076	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374606086	chr7:71677076-71677077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549244783	chr7:71677108-71677109	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549644335	chr7:71677133-71677134	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553869296	chr7:71677136-71677137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529496947	chr7:71677137-71677138	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531780461	chr7:71677138-71677139	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184034589	chr7:71677142-71677143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368434478	chr7:71677165-71677166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538763910	chr7:71677171-71677172	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139998740	chr7:71677226-71677227	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370838822	chr7:71677243-71677244	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559310067	chr7:71677265-71677266	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373799276	chr7:71677280-71677281	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574023671	chr7:71677283-71677284	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565960428	chr7:71677312-71677313	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77370782	chr7:71677315-71677316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371172042	chr7:71677318-71677319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555683211	chr7:71677330-71677331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200177494	chr7:71677333-71677334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200509892	chr7:71677334-71677335	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71973428	chr7:71677335-71677336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75875039	chr7:71677351-71677352	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71300798	chr7:71677352-71677353	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547678	chr7:71677353-71677354	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574024561	chr7:71677364-71677365	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71641200-71686800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71673200-71687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:71676200-71677600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:71676200-71677800	Strong transcription	Fetal Thymus	thymus
5	chr7:71676600-71676800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:71676600-71677000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:71676600-71678200	Weak transcription	Brain Anterior Caudate	brain
8	chr7:71676800-71678600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:71677000-71682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:71677600-71681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:71677800-71678600	Enhancers	Brain Hippocampus Middle	brain
12	chr7:71677800-71678800	Genic enhancers	Fetal Thymus	thymus
13	chr7:71678000-71678200	Enhancers	Thymus	Thymus
14	chr7:71678000-71678400	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:71678000-71678800	Enhancers	Brain Substantia Nigra	brain
16	chr7:71678000-71679000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:71678000-71679000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:71678200-71678600	Enhancers	Brain Anterior Caudate	brain
19	chr7:71678200-71678600	Weak transcription	Thymus	Thymus
20	chr7:71678400-71678800	Enhancers	Brain Angular Gyrus	brain
21	chr7:71678600-71679000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:71678600-71679000	ZNF genes & repeats	Thymus	Thymus
23	chr7:71678800-71680600	Weak transcription	Fetal Thymus	thymus
24	chr7:71679000-71686400	Weak transcription	Thymus	Thymus
25	chr7:71679000-71690200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:71679600-71682400	Weak transcription	Right Atrium	heart
27	chr7:71680600-71680800	Genic enhancers	Fetal Thymus	thymus
28	chr7:71680800-71682200	Strong transcription	Fetal Thymus	thymus
29	chr7:71681400-71682800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:71682000-71682800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:71682200-71682600	Genic enhancers	Fetal Thymus	thymus
32	chr7:71682600-71683800	Weak transcription	Fetal Thymus	thymus
33	chr7:71683800-71684800	Genic enhancers	Fetal Thymus	thymus
34	chr7:71684600-71684800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:71684800-71686200	Weak transcription	Fetal Thymus	thymus
36	chr7:71685600-71692800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:71686200-71687200	ZNF genes & repeats	Fetal Thymus	thymus
38	chr7:71686400-71692000	Strong transcription	Thymus	Thymus
39	chr7:71686800-71687400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr7:71687200-71687600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:71687200-71695400	Strong transcription	Fetal Thymus	thymus
42	chr7:71687400-71687600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:71687600-71688000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:71687600-71688600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:71687800-71688600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:71688000-71688800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:71688200-71688400	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:71688400-71709200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:71688600-71688800	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr7:71688600-71697800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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