Variant report

Variant	nsv831024
Chromosome Location	chr7:71569349-71735250
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:71642905..71645487-chr7:71655969..71658022,2	K562	blood:
2	chr7:71642905..71645487-chr7:71655969..71658022,2	K562	blood:
3	chr7:71721877..71723519-chr7:71725703..71728534,2	K562	blood:
4	chr7:71585300..71586969-chr7:71589158..71591405,2	K562	blood:
5	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:
6	chr7:71628262..71630650-chr7:71934094..71936911,2	K562	blood:
7	chr7:71721716..71724334-chr7:71739335..71741214,2	K562	blood:
8	chr7:71648521..71649566-chr7:71958858..71959802,3	MCF-7	breast:
9	chr7:71585300..71586969-chr7:71589158..71591405,2	K562	blood:
10	chr7:71730756..71733410-chr7:71737455..71739236,2	K562	blood:
11	chr7:71593896..71596339-chr7:71598361..71599867,2	K562	blood:
12	chr7:71663421..71665320-chr7:71669615..71672136,2	K562	blood:
13	chr7:71724576..71726876-chr7:71731815..71733875,3	K562	blood:
14	chr7:71721877..71723519-chr7:71725703..71728534,2	K562	blood:
15	chr7:71724576..71726876-chr7:71731815..71733875,3	K562	blood:
16	chr7:71586492..71588717-chr7:71593112..71596072,2	K562	blood:
17	chr7:71593896..71596339-chr7:71598361..71599867,2	K562	blood:
18	chr7:71663421..71665320-chr7:71669615..71672136,2	K562	blood:
19	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:
20	chr7:71586492..71588717-chr7:71593112..71596072,2	K562	blood:
21	chr1:64494077..64494875-chr7:71705794..71706323,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207190	chromatin interactions

Extended variants
information (count: 7763 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:7763 , 50 per page) page: 1 2 3 4 5 6 7 ... 156

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184379631	chr7:71569351-71569352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142469647	chr7:71569412-71569413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547469924	chr7:71569438-71569439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566104938	chr7:71569473-71569474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533828300	chr7:71569489-71569490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367995438	chr7:71569515-71569516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567439112	chr7:71569534-71569535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542139363	chr7:71569578-71569579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559926069	chr7:71569610-71569611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556253285	chr7:71569653-71569654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370304678	chr7:71569666-71569667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10240685	chr7:71569685-71569686	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553480093	chr7:71569691-71569692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572043840	chr7:71569740-71569741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542932639	chr7:71569763-71569764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10243717	chr7:71569770-71569771	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576199294	chr7:71569814-71569815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189047044	chr7:71569859-71569860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181914415	chr7:71569874-71569875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs860012	chr7:71569890-71569891	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10259034	chr7:71569943-71569944	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115169042	chr7:71569970-71569971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368289737	chr7:71570007-71570008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112842604	chr7:71570020-71570021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551026830	chr7:71570037-71570038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111451058	chr7:71570054-71570055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567575854	chr7:71570055-71570056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184810899	chr7:71570071-71570072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549998099	chr7:71570076-71570077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570095373	chr7:71570079-71570080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117401693	chr7:71570084-71570085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74532972	chr7:71570088-71570089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552351007	chr7:71570133-71570134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111272744	chr7:71570140-71570141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34173058	chr7:71570152-71570153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563749163	chr7:71570206-71570207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112771483	chr7:71570209-71570210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141290507	chr7:71570232-71570233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566239251	chr7:71570235-71570236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554805304	chr7:71570241-71570242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62462786	chr7:71570288-71570289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371336096	chr7:71570305-71570306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543745178	chr7:71570307-71570308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558709337	chr7:71570429-71570430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577394675	chr7:71570430-71570431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189736315	chr7:71570465-71570466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541136390	chr7:71570491-71570492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112243373	chr7:71570504-71570505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535250071	chr7:71570513-71570514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56410383	chr7:71570515-71570516	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71558400-71572800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:71559000-71571400	Strong transcription	Fetal Thymus	thymus
3	chr7:71561200-71573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:71561600-71570800	Weak transcription	Pancreas	Pancrea
5	chr7:71564400-71572000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:71565200-71572200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:71568000-71571200	Strong transcription	Thymus	Thymus
8	chr7:71568200-71570800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:71568400-71571000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:71569000-71570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:71570400-71570600	Weak transcription	HSMM	muscle
12	chr7:71570600-71570800	Enhancers	HSMM	muscle
13	chr7:71570800-71571200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:71570800-71572000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:71571000-71571200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:71571200-71571400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:71571200-71571400	Genic enhancers	Thymus	Thymus
18	chr7:71571200-71572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:71571400-71572600	Weak transcription	Fetal Thymus	thymus
20	chr7:71571400-71572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:71571400-71574600	Weak transcription	Thymus	Thymus
22	chr7:71572000-71572200	Enhancers	Brain Anterior Caudate	brain
23	chr7:71572000-71572800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:71572600-71575400	ZNF genes & repeats	Fetal Thymus	thymus
25	chr7:71572800-71573200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr7:71572800-71574200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:71572800-71574800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:71573000-71573400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:71573400-71578200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:71574200-71584200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:71574400-71578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:71574600-71575000	ZNF genes & repeats	Thymus	Thymus
33	chr7:71574600-71583800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:71574800-71583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:71575000-71587000	Weak transcription	Thymus	Thymus
36	chr7:71575400-71575600	Enhancers	Pancreas	Pancrea
37	chr7:71575400-71576000	Strong transcription	Fetal Thymus	thymus
38	chr7:71575600-71577000	Weak transcription	Pancreas	Pancrea
39	chr7:71575800-71576400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:71576000-71576400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:71576000-71576400	Enhancers	Brain Anterior Caudate	brain
42	chr7:71576000-71577400	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:71576000-71577400	Weak transcription	Fetal Thymus	thymus
44	chr7:71576200-71576400	Enhancers	Brain Angular Gyrus	brain
45	chr7:71576400-71577400	Weak transcription	Brain Angular Gyrus	brain
46	chr7:71576400-71577400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:71576400-71580800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:71577000-71577200	Enhancers	Pancreas	Pancrea
49	chr7:71577200-71577600	Weak transcription	Pancreas	Pancrea
50	chr7:71577400-71577800	Enhancers	Brain Angular Gyrus	brain

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