Variant report

Variant	nsv819767
Chromosome Location	chr7:98611913-98612592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98612577..98614691-chr7:98619408..98621203,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575752566	chr7:98611924-98611925	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190196407	chr7:98611925-98611926	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564758963	chr7:98611961-98611962	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528788224	chr7:98611999-98612000	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547146111	chr7:98612012-98612013	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549849005	chr7:98612037-98612038	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182626249	chr7:98612050-98612051	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547911811	chr7:98612087-98612088	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568151602	chr7:98612110-98612111	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569307769	chr7:98612145-98612146	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113815410	chr7:98612150-98612151	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185801948	chr7:98612156-98612157	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570697993	chr7:98612162-98612163	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553987286	chr7:98612163-98612164	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534627644	chr7:98612196-98612197	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73397292	chr7:98612197-98612198	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568288300	chr7:98612274-98612275	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535947675	chr7:98612275-98612276	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557528556	chr7:98612291-98612292	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575815557	chr7:98612319-98612320	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138719827	chr7:98612328-98612329	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190657179	chr7:98612354-98612355	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573450983	chr7:98612362-98612363	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540606321	chr7:98612363-98612364	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561926268	chr7:98612395-98612396	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142831183	chr7:98612398-98612399	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184036065	chr7:98612492-98612493	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541516633	chr7:98612511-98612512	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563004844	chr7:98612529-98612530	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530523964	chr7:98612589-98612590	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552116899	chr7:98612592-98612593	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98478000-98618600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:98478600-98613800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:98478600-98614400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:98478600-98614800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:98478800-98613600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr7:98478800-98614200	Strong transcription	Placenta	Placenta
7	chr7:98482400-98613600	Strong transcription	Dnd41	blood
8	chr7:98485000-98615400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:98522000-98614200	Strong transcription	Liver	Liver
10	chr7:98529400-98614800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:98529600-98614400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:98529600-98614600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr7:98531000-98613600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:98531000-98613600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:98542800-98618400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:98543000-98613600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:98583800-98648800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:98584000-98613800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:98584000-98614600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:98584600-98614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:98584600-98614600	Strong transcription	Fetal Muscle Leg	muscle
22	chr7:98584800-98618400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:98585400-98613600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:98585600-98614600	Strong transcription	Fetal Stomach	stomach
25	chr7:98586200-98614200	Strong transcription	Fetal Intestine Small	intestine
26	chr7:98587000-98613600	Strong transcription	Primary T cells from cord blood	blood
27	chr7:98587000-98613600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:98587400-98614000	Strong transcription	Thymus	Thymus
29	chr7:98587600-98613600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr7:98587600-98620200	Strong transcription	Fetal Thymus	thymus
31	chr7:98591800-98614200	Strong transcription	Fetal Brain Female	brain
32	chr7:98594000-98613600	Strong transcription	Pancreas	Pancrea
33	chr7:98595000-98613600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:98595000-98615400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:98595600-98613400	Strong transcription	Gastric	stomach
36	chr7:98595600-98613600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:98595600-98613800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:98595600-98613800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:98595600-98614200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:98595600-98614200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:98595600-98614800	Strong transcription	Osteobl	bone
42	chr7:98595800-98613600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:98595800-98614200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:98596000-98613800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:98596000-98614200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:98596200-98612800	Strong transcription	NHLF	lung
47	chr7:98596200-98613000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:98596200-98613400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:98596200-98613400	Strong transcription	Left Ventricle	heart
50	chr7:98596200-98613400	Strong transcription	Spleen	Spleen

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