Variant report

Variant	nsv607435
Chromosome Location	chr7:70198964-70202675
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	chr7:70184183..70185798-chr7:70197589..70200298,2	MCF-7	breast:

Extended variants
information (count: 170 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7783682	chr7:70198964-70198965	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553354493	chr7:70198972-70198973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574893744	chr7:70198991-70198992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542122301	chr7:70199006-70199007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564030340	chr7:70199023-70199024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78086647	chr7:70199024-70199025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570241602	chr7:70199053-70199054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76869759	chr7:70199057-70199058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538844456	chr7:70199079-70199080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532075224	chr7:70199088-70199089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547094021	chr7:70199093-70199094	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558883454	chr7:70199097-70199098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73181088	chr7:70199108-70199109	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548162354	chr7:70199118-70199119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569913771	chr7:70199133-70199134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536983737	chr7:70199158-70199159	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552394997	chr7:70199163-70199164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112184320	chr7:70199181-70199182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13225761	chr7:70199192-70199193	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs578127956	chr7:70199194-70199195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13225763	chr7:70199195-70199196	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113601720	chr7:70199197-70199198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187204933	chr7:70199201-70199202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540368646	chr7:70199220-70199221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554178554	chr7:70199228-70199229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73445005	chr7:70199259-70199260	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546135805	chr7:70199276-70199277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12698931	chr7:70199307-70199308	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs36026966	chr7:70199336-70199337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546054546	chr7:70199341-70199342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540692584	chr7:70199374-70199375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561613592	chr7:70199381-70199382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530698113	chr7:70199387-70199388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544030805	chr7:70199392-70199393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548156305	chr7:70199394-70199395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146109756	chr7:70199425-70199426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398111450	chr7:70199435-70199436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563180224	chr7:70199465-70199466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192672232	chr7:70199492-70199493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552506513	chr7:70199501-70199502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12698932	chr7:70199552-70199553	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564288443	chr7:70199576-70199577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534832154	chr7:70199588-70199589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546843901	chr7:70199606-70199607	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117418564	chr7:70199638-70199639	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535615369	chr7:70199679-70199680	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7783704	chr7:70199714-70199715	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74630958	chr7:70199716-70199717	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11766719	chr7:70199801-70199802	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372075422	chr7:70199806-70199807	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:70176200-70201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:70179800-70201600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:70183000-70201600	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:70183200-70200200	Weak transcription	Ovary	ovary
6	chr7:70183200-70201800	Weak transcription	Pancreas	Pancrea
7	chr7:70187000-70201200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:70190200-70201400	Weak transcription	Fetal Kidney	kidney
9	chr7:70190600-70199400	Weak transcription	Left Ventricle	heart
10	chr7:70190600-70199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:70190600-70201600	Weak transcription	Fetal Intestine Large	intestine
12	chr7:70190800-70199400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:70192200-70200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:70192400-70199400	Weak transcription	Fetal Heart	heart
15	chr7:70193000-70200600	Weak transcription	Liver	Liver
16	chr7:70194000-70199400	Weak transcription	NH-A	brain
17	chr7:70194200-70201800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:70194400-70199000	Weak transcription	Psoas Muscle	Psoas
19	chr7:70194400-70199800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:70194400-70201400	Weak transcription	Fetal Lung	lung
21	chr7:70194400-70201600	Weak transcription	Gastric	stomach
22	chr7:70194400-70201800	Weak transcription	Colonic Mucosa	Colon
23	chr7:70194400-70201800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:70194400-70203000	Weak transcription	Fetal Stomach	stomach
25	chr7:70194400-70203400	Weak transcription	Lung	lung
26	chr7:70194600-70199400	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:70194600-70201600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:70194800-70199400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:70194800-70200800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:70194800-70201600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:70195000-70199400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:70195000-70199400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:70195000-70199400	Weak transcription	Fetal Brain Male	brain
34	chr7:70195000-70199600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:70195000-70201400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:70195200-70201600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:70195600-70200200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:70195600-70201400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:70195600-70201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:70195800-70199800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:70195800-70199800	Weak transcription	NHEK	skin
42	chr7:70195800-70200000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:70195800-70227600	Weak transcription	Fetal Intestine Small	intestine
44	chr7:70196000-70199200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:70196000-70199400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:70196000-70199600	Weak transcription	Fetal Brain Female	brain
47	chr7:70196000-70200000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:70196000-70201400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:70196000-70201600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:70196000-70201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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