Variant report

Variant	nsv981849
Chromosome Location	chr7:107113401-107115791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107111916..107113727-chr7:107113763..107116184,2	MCF-7	breast:
2	chr7:107111916..107113727-chr7:107113763..107116184,2	MCF-7	breast:
3	chr7:107109371..107111739-chr7:107112489..107114985,2	K562	blood:
4	chr7:107105733..107108568-chr7:107114784..107116920,2	K562	blood:
5	chr7:107113174..107117044-chr7:107118351..107120952,4	K562	blood:

Variant related genes	Relation type
ENSG00000172209	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78999442	chr7:107113409-107113410	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146625090	chr7:107113422-107113423	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530587743	chr7:107113458-107113459	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs367996743	chr7:107113465-107113466	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372569988	chr7:107113506-107113507	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550701201	chr7:107113509-107113510	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558329109	chr7:107113533-107113534	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532795932	chr7:107113559-107113560	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140007261	chr7:107113560-107113561	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566786740	chr7:107113721-107113722	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535764656	chr7:107113737-107113738	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34325395	chr7:107113808-107113809	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs182529081	chr7:107113827-107113828	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76119280	chr7:107113850-107113851	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17481621	chr7:107113852-107113853	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs573953460	chr7:107113911-107113912	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs578054396	chr7:107113912-107113913	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534220071	chr7:107113994-107113995	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111628318	chr7:107114036-107114037	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573128384	chr7:107114116-107114117	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541768751	chr7:107114144-107114145	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544791739	chr7:107114248-107114249	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575397301	chr7:107114343-107114344	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11453718	chr7:107114400-107114401	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs386410944	chr7:107114402-107114403	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372858257	chr7:107114407-107114408	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375104063	chr7:107114408-107114409	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544275781	chr7:107114423-107114424	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189832337	chr7:107114429-107114430	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373919718	chr7:107114456-107114457	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184159432	chr7:107114482-107114483	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377116061	chr7:107114494-107114495	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148017336	chr7:107114564-107114565	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188712129	chr7:107114573-107114574	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141612463	chr7:107114588-107114589	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368142557	chr7:107114665-107114666	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372074309	chr7:107114696-107114697	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373788840	chr7:107114739-107114740	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149758675	chr7:107114760-107114761	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374998885	chr7:107114824-107114825	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140158871	chr7:107114844-107114845	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143888088	chr7:107114849-107114850	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs367635629	chr7:107114853-107114854	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372374823	chr7:107114877-107114878	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183519884	chr7:107114884-107114885	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200865278	chr7:107114902-107114903	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375309585	chr7:107114959-107114960	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146406789	chr7:107114970-107114971	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571734983	chr7:107114978-107114979	Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144444737	chr7:107115083-107115084	Weak transcription Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:107052600-107126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:107067600-107119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:107083400-107115400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:107088600-107126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:107090000-107114600	Weak transcription	Primary T cells from cord blood	blood
7	chr7:107090800-107146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:107091000-107145800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:107098800-107132600	Weak transcription	Primary B cells from cord blood	blood
10	chr7:107104200-107118000	Weak transcription	NHEK	skin
11	chr7:107104200-107121000	Weak transcription	K562	blood
12	chr7:107110200-107115400	Active TSS	Fetal Brain Male	brain
13	chr7:107110200-107117400	Active TSS	Fetal Brain Female	brain
14	chr7:107110400-107115600	Active TSS	Brain Cingulate Gyrus	brain
15	chr7:107110400-107115800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:107110800-107115400	Active TSS	Brain Angular Gyrus	brain
17	chr7:107110800-107115800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:107111000-107115200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:107111800-107114000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:107111800-107115800	Active TSS	Right Atrium	heart
21	chr7:107112000-107114000	Enhancers	NHDF-Ad	bronchial
22	chr7:107112200-107120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:107112600-107115800	Active TSS	Right Ventricle	heart
24	chr7:107112600-107116200	ZNF genes & repeats	Fetal Heart	heart
25	chr7:107112800-107113600	Weak transcription	Brain Anterior Caudate	brain
26	chr7:107112800-107145800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:107113000-107114400	Weak transcription	Left Ventricle	heart
28	chr7:107113000-107114600	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:107113000-107124800	Weak transcription	HUVEC	blood vessel
30	chr7:107113200-107113600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:107113200-107113800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:107113400-107126200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:107113600-107114000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:107113600-107114000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:107113600-107115600	Active TSS	Brain Anterior Caudate	brain
36	chr7:107113800-107114000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:107114400-107115600	Active TSS	Left Ventricle	heart
38	chr7:107114600-107114800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr7:107114600-107115400	Strong transcription	Primary T cells from cord blood	blood
40	chr7:107114800-107115400	Active TSS	Brain Hippocampus Middle	brain
41	chr7:107115200-107115600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:107115400-107115600	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr7:107115400-107132800	Weak transcription	Primary T cells from cord blood	blood
44	chr7:107115600-107135200	Weak transcription	Left Ventricle	heart

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