Variant report

Variant	nsv1025029
Chromosome Location	chr7:101120515-101156998
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000160963	chromatin interactions
ENSG00000128581	chromatin interactions

Extended variants
information (count: 1560 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1560 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114462505	chr7:101120535-101120536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79154338	chr7:101120567-101120568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534570074	chr7:101120620-101120621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543362840	chr7:101120626-101120627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs565147332	chr7:101120634-101120635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577260817	chr7:101120642-101120643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs182847133	chr7:101120653-101120654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs559877833	chr7:101120704-101120705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78342937	chr7:101120716-101120717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs141248664	chr7:101120876-101120877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115985400	chr7:101120903-101120904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143512763	chr7:101120968-101120969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34351869	chr7:101121014-101121015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552139601	chr7:101121015-101121016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61499663	chr7:101121029-101121030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534692433	chr7:101121108-101121109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546411839	chr7:101121188-101121189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76566547	chr7:101121254-101121255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535241377	chr7:101121286-101121287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12111657	chr7:101121294-101121295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540480406	chr7:101121336-101121337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558740389	chr7:101121364-101121365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117680908	chr7:101121464-101121465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558908784	chr7:101121510-101121511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190699410	chr7:101121525-101121526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6967098	chr7:101121549-101121550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373400429	chr7:101121555-101121556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6948940	chr7:101121561-101121562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575011658	chr7:101121588-101121589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182947998	chr7:101121589-101121590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187499218	chr7:101121615-101121616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369885635	chr7:101121616-101121617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77902970	chr7:101121623-101121624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192672710	chr7:101121624-101121625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561090283	chr7:101121699-101121700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528037343	chr7:101121762-101121763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546596335	chr7:101121785-101121786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567768568	chr7:101121816-101121817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528964561	chr7:101121860-101121861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140744087	chr7:101121881-101121882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568759784	chr7:101121903-101121904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183125460	chr7:101121995-101121996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11972080	chr7:101122003-101122004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187170570	chr7:101122046-101122047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577588733	chr7:101122078-101122079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78657100	chr7:101122084-101122085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557159722	chr7:101122133-101122134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192321038	chr7:101122171-101122172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34915107	chr7:101122178-101122179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10229465	chr7:101122191-101122192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101114600-101128600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:101114600-101128600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:101114600-101129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:101116200-101120600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:101116200-101127200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:101116200-101128600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:101120400-101120800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:101120600-101120800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:101120800-101127200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:101122400-101122800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr7:101123000-101123200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:101123200-101128800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:101123800-101129400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:101126000-101129400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:101126800-101165000	Weak transcription	Right Atrium	heart
16	chr7:101127200-101127400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:101127200-101127600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:101127400-101128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:101127600-101128400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:101128400-101129000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:101128400-101129200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:101128400-101130800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:101128600-101129200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:101128600-101129600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:101128600-101129600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:101128600-101129800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:101128600-101130600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:101128600-101130600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:101128600-101131000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:101128600-101131600	Enhancers	Fetal Muscle Leg	muscle
31	chr7:101128800-101130600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:101128800-101130800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:101129000-101130600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:101129000-101130600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:101129000-101130800	Enhancers	Ovary	ovary
36	chr7:101129000-101131000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr7:101129200-101130000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:101129200-101130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:101129400-101129600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:101129400-101129600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:101129400-101129600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:101129400-101130000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:101129400-101130200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:101129400-101130200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:101129400-101130200	Enhancers	Placenta	Placenta
46	chr7:101129400-101130400	Enhancers	Fetal Stomach	stomach
47	chr7:101129400-101130600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr7:101129400-101130600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:101129400-101130800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:101129600-101129800	Enhancers	HUES48 Cell Line	embryonic stem cell

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