Variant report

Variant	nsv888823
Chromosome Location	chr7:101109073-101174965
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:100933432..100934555-chr7:101150641..101151287,4	MCF-7	breast:
2	chr7:101115888..101118705-chr7:101119430..101120969,2	MCF-7	breast:
3	chr7:101054216..101055052-chr7:101150685..101151359,3	MCF-7	breast:
4	chr7:100925966..100926493-chr7:101150818..101151617,2	K562	blood:
5	chr7:101100597..101102046-chr7:101150673..101151702,7	MCF-7	breast:
6	chr7:100958176..100959175-chr7:101150758..101151564,2	MCF-7	breast:
7	chr7:100963124..100966014-chr7:101122778..101124584,2	MCF-7	breast:
8	chr7:101117670..101118572-chr7:101150768..101151530,2	MCF-7	breast:
9	chr7:101150080..101152879-chr7:101154593..101156127,2	K562	blood:
10	chr7:100964862..100966069-chr7:101150864..101151681,3	MCF-7	breast:
11	chr7:100958537..100959278-chr7:101150993..101151712,3	MCF-7	breast:
12	chr7:100895581..100897444-chr7:101158213..101159730,2	MCF-7	breast:
13	chr7:101006811..101007905-chr7:101150693..101151800,11	K562	blood:
14	chr7:101084569..101086934-chr7:101141583..101143364,2	MCF-7	breast:
15	chr7:101112161..101112969-chr7:101150803..101151689,2	MCF-7	breast:
16	chr7:101005024..101007220-chr7:101150535..101153379,2	MCF-7	breast:
17	chr7:101006510..101007838-chr7:101150604..101151700,15	MCF-7	breast:
18	chr7:101115888..101118705-chr7:101119430..101120969,2	MCF-7	breast:
19	chr7:101110378..101112867-chr7:101115903..101117438,2	K562	blood:
20	chr7:101112161..101112969-chr7:101150803..101151689,2	MCF-7	breast:
21	chr7:101054544..101055233-chr7:101150595..101151343,2	K562	blood:
22	chr7:101110378..101112867-chr7:101115903..101117438,2	K562	blood:
23	chr7:101150080..101152879-chr7:101154593..101156127,2	K562	blood:
24	chr7:101140309..101142156-chr7:101143557..101146055,2	MCF-7	breast:
25	chr7:101068095..101068916-chr7:101150848..101151469,2	MCF-7	breast:
26	chr7:101168305..101170280-chr7:101929643..101931645,2	K562	blood:
27	chr7:101151201..101151770-chr7:101181797..101182747,2	MCF-7	breast:
28	chr7:101169835..101171791-chr7:101181175..101183653,2	K562	blood:
29	chr7:101117670..101118572-chr7:101150768..101151530,2	MCF-7	breast:
30	chr7:101083724..101084446-chr7:101150709..101151315,2	MCF-7	breast:
31	chr7:100925438..100926806-chr7:101150747..101151857,4	MCF-7	breast:
32	chr7:100965050..100966058-chr7:101150850..101151645,3	MCF-7	breast:
33	chr7:101006908..101008057-chr7:101150804..101151679,7	MCF-7	breast:
34	chr7:101131107..101133497-chr7:101133742..101135419,2	K562	blood:
35	chr7:101131107..101133497-chr7:101133742..101135419,2	K562	blood:
36	chr7:101140309..101142156-chr7:101143557..101146055,2	MCF-7	breast:
37	chr7:101100607..101102049-chr7:101150824..101151606,9	MCF-7	breast:
38	chr7:100933411..100934409-chr7:101150803..101151635,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214253	chromatin interactions
ENSG00000160963	chromatin interactions
ENSG00000128581	chromatin interactions

Extended variants
information (count: 2864 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2864 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10276579	chr7:101109073-101109074	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73398919	chr7:101109160-101109161	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185801003	chr7:101109179-101109180	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552819785	chr7:101109183-101109184	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140629695	chr7:101109187-101109188	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs114568980	chr7:101109226-101109227	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552964990	chr7:101109244-101109245	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574527882	chr7:101109286-101109287	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2097907	chr7:101109296-101109297	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557051065	chr7:101109310-101109311	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372559708	chr7:101109406-101109407	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575333010	chr7:101109422-101109423	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555748339	chr7:101109423-101109424	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs116707023	chr7:101109471-101109472	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376376619	chr7:101109479-101109480	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs62464283	chr7:101109497-101109498	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs190375036	chr7:101109509-101109510	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559311814	chr7:101109518-101109519	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530156646	chr7:101109531-101109532	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs541936563	chr7:101109532-101109533	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191442199	chr7:101109544-101109545	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530930834	chr7:101109559-101109560	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs11765721	chr7:101109580-101109581	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs11765722	chr7:101109586-101109587	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552756427	chr7:101109599-101109600	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183465271	chr7:101109600-101109601	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528783835	chr7:101109647-101109648	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547362180	chr7:101109652-101109653	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535218972	chr7:101109654-101109655	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2898581	chr7:101109690-101109691	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs35556754	chr7:101109705-101109706	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556702018	chr7:101109737-101109738	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568909359	chr7:101109861-101109862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376310778	chr7:101109885-101109886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188628270	chr7:101109916-101109917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568112060	chr7:101109962-101109963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572744371	chr7:101109979-101109980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370738034	chr7:101109980-101109981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535488608	chr7:101109983-101109984	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547202011	chr7:101110018-101110019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116083644	chr7:101110019-101110020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144384001	chr7:101110071-101110072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79953551	chr7:101110078-101110079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565504472	chr7:101110111-101110112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59942660	chr7:101110114-101110115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111586032	chr7:101110116-101110117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7778056	chr7:101110118-101110119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35124013	chr7:101110119-101110120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146292822	chr7:101110120-101110121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62464286	chr7:101110122-101110123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101070000-101114000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:101080600-101113800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:101081000-101110200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:101081000-101112600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:101086200-101112800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:101086200-101113200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:101086600-101114000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:101093800-101115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:101095600-101110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:101105000-101109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:101105200-101110200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:101106400-101110400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:101106400-101113800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:101108000-101109200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:101108200-101109600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:101108200-101110400	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:101108400-101109200	Enhancers	Primary B cells from cord blood	blood
18	chr7:101108400-101109400	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:101108400-101109400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:101108400-101109600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:101108600-101109200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:101108600-101109200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr7:101108600-101109400	Enhancers	Thymus	Thymus
24	chr7:101108600-101109400	Enhancers	GM12878-XiMat	blood
25	chr7:101108600-101109600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr7:101108600-101109600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:101108600-101109800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:101108600-101109800	Enhancers	Fetal Stomach	stomach
29	chr7:101108600-101110600	Enhancers	Fetal Thymus	thymus
30	chr7:101108800-101109400	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr7:101109000-101109200	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:101109000-101109200	Enhancers	Spleen	Spleen
33	chr7:101109000-101109400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:101109000-101109400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr7:101109000-101109400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:101109000-101109400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:101109000-101109400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:101109000-101113800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:101109200-101109400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr7:101109200-101109400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:101109200-101109600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:101109200-101110600	Enhancers	Fetal Lung	lung
43	chr7:101109400-101109600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:101109400-101109800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr7:101109400-101109800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:101109400-101110000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:101109600-101109800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:101109600-101111000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:101109800-101111000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:101109800-101111600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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