Variant report

Variant	nsv933754
Chromosome Location	chr7:6035110-6035434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6033194..6036666-chr7:6097186..6100537,4	MCF-7	breast:
2	chr7:6029549..6032323-chr7:6033802..6035635,3	MCF-7	breast:
3	chr7:6035383..6037045-chr7:6343734..6346245,2	MCF-7	breast:
4	chr7:6034085..6036991-chr7:6144638..6147451,2	MCF-7	breast:
5	chr7:6028083..6031843-chr7:6035070..6038579,3	K562	blood:
6	chr7:6034265..6036958-chr7:6048918..6052567,3	K562	blood:
7	chr7:6035426..6037082-chr7:6372151..6373884,2	MCF-7	breast:
8	chr7:6034265..6036958-chr7:6048881..6052567,3	K562	blood:

Variant related genes	Relation type
ENSG00000106346	chromatin interactions
ENSG00000106305	chromatin interactions
ENSG00000086232	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577291487	chr7:6035120-6035121	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs374978937	chr7:6035134-6035135	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369174936	chr7:6035137-6035138	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs376151768	chr7:6035141-6035142	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs267608153	chr7:6035165-6035166	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375553553	chr7:6035182-6035183	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs369763423	chr7:6035184-6035185	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs182246929	chr7:6035185-6035186	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373239341	chr7:6035187-6035188	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563433235	chr7:6035188-6035189	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs530993704	chr7:6035191-6035192	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs267608154	chr7:6035204-6035205	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs63750246	chr7:6035205-6035206	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201921616	chr7:6035210-6035211	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs116788608	chr7:6035211-6035212	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs63750544	chr7:6035212-6035213	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs63750789	chr7:6035233-6035234	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs116481522	chr7:6035237-6035238	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs1805322	chr7:6035238-6035239	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546966892	chr7:6035244-6035245	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs267608151	chr7:6035274-6035275	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs376260117	chr7:6035300-6035301	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs374073876	chr7:6035304-6035305	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs571688256	chr7:6035313-6035314	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs539099470	chr7:6035354-6035355	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs570992159	chr7:6035373-6035374	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs569361397	chr7:6035390-6035391	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs536850723	chr7:6035426-6035427	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs2286681	chr7:6035428-6035429	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:80)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6010400-6048000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6016200-6047600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:6017400-6038600	Weak transcription	Brain Angular Gyrus	brain
4	chr7:6018400-6035400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:6019400-6035400	Weak transcription	HepG2	liver
6	chr7:6019600-6035200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:6019600-6035200	Weak transcription	Fetal Brain Male	brain
8	chr7:6022600-6048000	Weak transcription	NHLF	lung
9	chr7:6025000-6035400	Weak transcription	Psoas Muscle	Psoas
10	chr7:6025000-6039600	Weak transcription	Esophagus	oesophagus
11	chr7:6025000-6048000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:6025200-6046800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:6025400-6035200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:6025400-6035200	Weak transcription	HSMM	muscle
15	chr7:6025800-6038600	Weak transcription	Aorta	Aorta
16	chr7:6025800-6045200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:6026200-6042800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:6026200-6045400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:6026200-6046200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:6026400-6036000	Strong transcription	Adipose Nuclei	Adipose
21	chr7:6026400-6036800	Strong transcription	Liver	Liver
22	chr7:6026400-6037200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:6026400-6040000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:6026400-6042000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:6026400-6043600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:6026400-6043600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:6026400-6043600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:6026400-6044000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:6026400-6044000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:6026400-6045000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr7:6026400-6045000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:6026400-6045400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:6026400-6045600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:6026600-6042800	Strong transcription	Fetal Stomach	stomach
35	chr7:6026600-6045400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr7:6026800-6035400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:6027600-6035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:6027600-6047200	Weak transcription	Fetal Kidney	kidney
39	chr7:6027800-6035200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:6028000-6048000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:6028200-6045000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr7:6029000-6035200	Weak transcription	Gastric	stomach
43	chr7:6029000-6048000	Weak transcription	Right Ventricle	heart
44	chr7:6029200-6035200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:6029200-6035200	Weak transcription	Brain Substantia Nigra	brain
46	chr7:6029200-6035200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:6029400-6035200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:6029400-6035200	Weak transcription	Ovary	ovary
49	chr7:6029400-6035200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:6029400-6035400	Weak transcription	Placenta Amnion	Placenta Amnion

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