Variant report

Variant	nsv8189
Chromosome Location	chr7:101681495-101685265
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	chr7:101677836..101679461-chr7:101681645..101683380,2	K562	blood:
2	chr7:101459310..101462268-chr7:101682411..101685217,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH2B2-5	chr7:101685040-101688225	ucscGeneNc_uc003uyy_2

Variant related genes	Relation type
ENSG00000257923	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112178031	chr7:101681521-101681522	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533199897	chr7:101681522-101681523	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368887400	chr7:101681527-101681528	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552379756	chr7:101681567-101681568	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570956837	chr7:101681650-101681651	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561431627	chr7:101681652-101681653	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76186138	chr7:101681686-101681687	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182175083	chr7:101681747-101681748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547032766	chr7:101681790-101681791	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568730323	chr7:101681799-101681800	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547291744	chr7:101681883-101681884	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372155477	chr7:101681897-101681898	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536159906	chr7:101681908-101681909	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140028588	chr7:101681911-101681912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569344127	chr7:101681929-101681930	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188402865	chr7:101681930-101681931	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540061911	chr7:101681954-101681955	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7778441	chr7:101681958-101681959	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192645011	chr7:101681959-101681960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550261453	chr7:101681961-101681962	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554948756	chr7:101682052-101682053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145890061	chr7:101682076-101682077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148978651	chr7:101682122-101682123	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562840584	chr7:101682171-101682172	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532966642	chr7:101682194-101682195	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375627322	chr7:101682211-101682212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545215377	chr7:101682246-101682247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12540714	chr7:101682270-101682271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150104569	chr7:101682371-101682372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528607002	chr7:101682373-101682374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58422337	chr7:101682406-101682407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568462363	chr7:101682427-101682428	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79973398	chr7:101682481-101682482	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs17132157	chr7:101682501-101682502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183170298	chr7:101682512-101682513	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539619893	chr7:101682513-101682514	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558344247	chr7:101682528-101682529	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566187921	chr7:101682560-101682561	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115275324	chr7:101682571-101682572	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs151163908	chr7:101682572-101682573	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573292686	chr7:101682607-101682608	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553364375	chr7:101682622-101682623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141201706	chr7:101682623-101682624	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376568336	chr7:101682664-101682665	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577885855	chr7:101682697-101682698	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188444171	chr7:101682750-101682751	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560392784	chr7:101682775-101682776	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192002170	chr7:101682785-101682786	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184917467	chr7:101682797-101682798	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562199853	chr7:101682818-101682819	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101642800-101697600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:101648200-101688000	Weak transcription	Ovary	ovary
3	chr7:101652400-101683200	Weak transcription	Right Ventricle	heart
4	chr7:101652800-101688400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:101653000-101688200	Weak transcription	Colonic Mucosa	Colon
6	chr7:101653200-101685200	Weak transcription	HSMMtube	muscle
7	chr7:101656000-101682800	Weak transcription	Psoas Muscle	Psoas
8	chr7:101656000-101689200	Weak transcription	Aorta	Aorta
9	chr7:101665600-101688000	Weak transcription	Brain Angular Gyrus	brain
10	chr7:101667200-101688200	Weak transcription	Brain Substantia Nigra	brain
11	chr7:101667600-101685200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:101667600-101685200	Weak transcription	NH-A	brain
13	chr7:101667600-101688000	Weak transcription	Brain Anterior Caudate	brain
14	chr7:101667600-101688000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:101667600-101688200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:101667600-101688400	Weak transcription	Fetal Brain Female	brain
17	chr7:101668000-101707200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:101668200-101682600	Weak transcription	Left Ventricle	heart
19	chr7:101668200-101683200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:101668200-101688000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:101668600-101694200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:101668800-101682600	Weak transcription	Right Atrium	heart
23	chr7:101671800-101688000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:101671800-101688400	Weak transcription	Fetal Brain Male	brain
25	chr7:101672000-101683000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:101672000-101685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:101672000-101685400	Weak transcription	NHEK	skin
28	chr7:101672000-101688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:101672200-101685200	Weak transcription	A549	lung
30	chr7:101672200-101688000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:101672200-101692200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:101672200-101697000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:101672400-101685200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:101672400-101694000	Weak transcription	Primary T cells from cord blood	blood
35	chr7:101672400-101697200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:101673000-101683400	Weak transcription	K562	blood
37	chr7:101673000-101687800	Weak transcription	Fetal Lung	lung
38	chr7:101673000-101688200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:101673000-101689200	Weak transcription	Spleen	Spleen
40	chr7:101673200-101681800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:101673200-101682400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:101673200-101682800	Weak transcription	Liver	Liver
43	chr7:101673200-101683000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:101673200-101685200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:101673200-101685200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:101673200-101685200	Weak transcription	Gastric	stomach
47	chr7:101673200-101685400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:101673200-101688000	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:101673200-101688000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:101673200-101688200	Weak transcription	Duodenum Mucosa	Duodenum

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