Variant report

Variant	esv3477334
Chromosome Location	chr7:70196200-70203036
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: 295 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367781036	chr7:70196200-70196201	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370155875	chr7:70196203-70196204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56010262	chr7:70196218-70196219	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554434613	chr7:70196289-70196290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7794753	chr7:70196290-70196291	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575885880	chr7:70196305-70196306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57202609	chr7:70196318-70196319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13234828	chr7:70196332-70196333	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs59964161	chr7:70196356-70196357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56244002	chr7:70196432-70196433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373082668	chr7:70196484-70196485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544458049	chr7:70196485-70196486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377434727	chr7:70196509-70196510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533283524	chr7:70196564-70196565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188124463	chr7:70196565-70196566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575580642	chr7:70196572-70196573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527774936	chr7:70196600-70196601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71549376	chr7:70196601-70196602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181357751	chr7:70196606-70196607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35524416	chr7:70196609-70196610	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570134002	chr7:70196617-70196618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35745054	chr7:70196658-70196659	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550421042	chr7:70196659-70196660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571826486	chr7:70196667-70196668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186433298	chr7:70196695-70196696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548002130	chr7:70196705-70196706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375199763	chr7:70196706-70196707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533827391	chr7:70196713-70196714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530239768	chr7:70196718-70196719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555512746	chr7:70196729-70196730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34970993	chr7:70196733-70196734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190135370	chr7:70196751-70196752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34845788	chr7:70196767-70196768	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555964477	chr7:70196768-70196769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368521128	chr7:70196786-70196787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556155227	chr7:70196790-70196791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530759719	chr7:70196795-70196796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182044239	chr7:70196799-70196800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544947189	chr7:70196802-70196803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559865988	chr7:70196853-70196854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571917018	chr7:70196891-70196892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112974175	chr7:70196935-70196936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11983940	chr7:70196953-70196954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115981810	chr7:70196977-70196978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531861119	chr7:70197033-70197034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549891310	chr7:70197057-70197058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565321944	chr7:70197139-70197140	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544718495	chr7:70197153-70197154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532852092	chr7:70197168-70197169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17604378	chr7:70197277-70197278	Weak transcription Strong transcription Genic enhancers Enhancers	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:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr7:70183600-70197600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:70185800-70197600	Weak transcription	HSMMtube	muscle
9	chr7:70186400-70198200	Weak transcription	Dnd41	blood
10	chr7:70187000-70201200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:70190200-70201400	Weak transcription	Fetal Kidney	kidney
12	chr7:70190600-70199400	Weak transcription	Left Ventricle	heart
13	chr7:70190600-70199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:70190600-70201600	Weak transcription	Fetal Intestine Large	intestine
15	chr7:70190800-70198000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:70190800-70199400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:70191000-70197400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:70192200-70197400	Weak transcription	Brain Anterior Caudate	brain
19	chr7:70192200-70200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:70192400-70196800	Weak transcription	Primary T cells from cord blood	blood
21	chr7:70192400-70197200	Weak transcription	Fetal Thymus	thymus
22	chr7:70192400-70198800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:70192400-70199400	Weak transcription	Fetal Heart	heart
24	chr7:70193000-70200600	Weak transcription	Liver	Liver
25	chr7:70194000-70199400	Weak transcription	NH-A	brain
26	chr7:70194200-70201800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:70194400-70199000	Weak transcription	Psoas Muscle	Psoas
28	chr7:70194400-70199800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:70194400-70201400	Weak transcription	Fetal Lung	lung
30	chr7:70194400-70201600	Weak transcription	Gastric	stomach
31	chr7:70194400-70201800	Weak transcription	Colonic Mucosa	Colon
32	chr7:70194400-70201800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:70194400-70203000	Weak transcription	Fetal Stomach	stomach
34	chr7:70194400-70203400	Weak transcription	Lung	lung
35	chr7:70194600-70197200	Weak transcription	Esophagus	oesophagus
36	chr7:70194600-70197200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:70194600-70197200	Weak transcription	Small Intestine	intestine
38	chr7:70194600-70199400	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:70194600-70201600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:70194800-70197200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:70194800-70198800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:70194800-70199400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:70194800-70200800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:70194800-70201600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:70195000-70199400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:70195000-70199400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:70195000-70199400	Weak transcription	Fetal Brain Male	brain
48	chr7:70195000-70199600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:70195000-70201400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:70195200-70201600	Weak transcription	Rectal Mucosa Donor 31	rectum

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