Variant report

Variant	nsv970564
Chromosome Location	chr7:102397635-102440049
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	chr7:102430529..102431497-chr7:102702527..102703245,2	K562	blood:
2	chr7:102396782..102398459-chr7:102714684..102716364,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170632	chromatin interactions
ENSG00000161040	chromatin interactions

Extended variants
information (count: 1276 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1276 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542900587	chr7:102397704-102397705	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536340367	chr7:102397744-102397745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145664357	chr7:102397792-102397793	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569670734	chr7:102397795-102397796	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs2537458	chr7:102397811-102397812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537368121	chr7:102397841-102397842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559170513	chr7:102397862-102397863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577453132	chr7:102397863-102397864	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535250272	chr7:102397957-102397958	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146492539	chr7:102397984-102397985	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs6961028	chr7:102398001-102398002	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574594022	chr7:102398073-102398074	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532738485	chr7:102398152-102398153	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541899299	chr7:102398158-102398159	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563292820	chr7:102398234-102398235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575140681	chr7:102398245-102398246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs545463965	chr7:102398246-102398247	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564430696	chr7:102398260-102398261	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201678373	chr7:102398335-102398336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs571312749	chr7:102398356-102398357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528369048	chr7:102398368-102398369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs199537059	chr7:102398410-102398411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556321811	chr7:102398411-102398412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112922484	chr7:102398418-102398419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568921059	chr7:102398453-102398454	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561508090	chr7:102398457-102398458	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530139272	chr7:102398465-102398466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7779331	chr7:102398479-102398480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569967647	chr7:102398558-102398559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370960344	chr7:102398594-102398595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537488254	chr7:102398611-102398612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552267251	chr7:102398619-102398620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28663344	chr7:102398657-102398658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534965411	chr7:102398684-102398685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138306190	chr7:102398717-102398718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575056997	chr7:102398736-102398737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547758646	chr7:102398807-102398808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181792581	chr7:102398832-102398833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575226039	chr7:102398835-102398836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187406024	chr7:102398856-102398857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71106694	chr7:102398864-102398865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71531138	chr7:102398870-102398871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6945867	chr7:102398874-102398875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554315669	chr7:102398906-102398907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71570361	chr7:102398920-102398921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71570362	chr7:102398927-102398928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573103906	chr7:102398936-102398937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71570363	chr7:102398948-102398949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540091404	chr7:102398957-102398958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75206421	chr7:102398961-102398962	Weak transcription	n/a	n/a	Overlapped CNVs	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
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102390000-102402000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:102390000-102404000	Weak transcription	Aorta	Aorta
3	chr7:102390000-102405000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:102390000-102405200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:102390000-102421000	Weak transcription	Lung	lung
6	chr7:102390000-102434400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:102390200-102397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:102390200-102401200	Weak transcription	Gastric	stomach
9	chr7:102390200-102419200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:102390200-102432000	Weak transcription	Left Ventricle	heart
11	chr7:102390400-102411400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:102390400-102421000	Weak transcription	Fetal Intestine Large	intestine
13	chr7:102390400-102421200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:102390600-102402000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:102390600-102404000	Weak transcription	Pancreas	Pancrea
16	chr7:102390600-102404200	Weak transcription	Ovary	ovary
17	chr7:102390600-102405400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:102390600-102406400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:102390600-102420400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:102390600-102421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:102390600-102421000	Weak transcription	Thymus	Thymus
22	chr7:102390600-102421200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:102390600-102422600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:102390800-102397800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:102390800-102397800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:102390800-102397800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:102390800-102398200	Weak transcription	HMEC	breast
28	chr7:102390800-102398600	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:102390800-102402200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:102390800-102403600	Weak transcription	Fetal Heart	heart
31	chr7:102390800-102404000	Weak transcription	Fetal Lung	lung
32	chr7:102390800-102405000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:102390800-102406800	Weak transcription	Brain Anterior Caudate	brain
34	chr7:102390800-102421200	Weak transcription	Brain Germinal Matrix	brain
35	chr7:102390800-102421200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:102390800-102448800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:102391000-102398000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:102391000-102398000	Weak transcription	A549	lung
39	chr7:102391000-102402000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:102391000-102404000	Weak transcription	Fetal Brain Female	brain
41	chr7:102391000-102404000	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:102391000-102420000	Weak transcription	Liver	Liver
43	chr7:102391000-102420400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:102391000-102420400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:102391000-102421000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:102391000-102421200	Weak transcription	Fetal Thymus	thymus
47	chr7:102391000-102424800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:102391000-102435400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:102391600-102397800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:102391600-102402000	Weak transcription	K562	blood

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