Variant report

Variant	esv2458495
Chromosome Location	chr7:101333616-101335344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101332096..101334015-chr7:101646286..101648242,2	MCF-7	breast:
2	chr7:101331022..101333643-chr7:101341514..101343495,2	MCF-7	breast:
3	chr7:101330039..101336974-chr7:101455968..101461022,11	MCF-7	breast:
4	chr7:101329586..101337237-chr7:101456658..101461622,22	MCF-7	breast:
5	chr7:101332498..101335096-chr7:101338388..101341217,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257923	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527885203	chr7:101333796-101333797	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549295668	chr7:101333810-101333811	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6965966	chr7:101333836-101333837	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117648986	chr7:101333838-101333839	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561313534	chr7:101333909-101333910	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112656842	chr7:101333912-101333913	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549894494	chr7:101333946-101333947	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568237537	chr7:101333983-101333984	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1636447	chr7:101333993-101333994	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111796896	chr7:101334009-101334010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs58380762	chr7:101334015-101334016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs398111650	chr7:101334016-101334017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200704956	chr7:101334023-101334024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373180067	chr7:101334027-101334028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538394540	chr7:101334050-101334051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547464829	chr7:101334054-101334055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10270029	chr7:101334087-101334088	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74939313	chr7:101334105-101334106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536433025	chr7:101334113-101334114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs66525873	chr7:101334167-101334168	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10270145	chr7:101334185-101334186	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111370105	chr7:101334211-101334212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371133700	chr7:101334212-101334213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373427152	chr7:101334213-101334214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375755979	chr7:101334214-101334215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370095716	chr7:101334215-101334216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373616159	chr7:101334239-101334240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11767312	chr7:101334255-101334256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368019780	chr7:101334256-101334257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs202016739	chr7:101334420-101334421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs199964517	chr7:101334496-101334497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374718680	chr7:101334515-101334516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150400375	chr7:101334639-101334640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112171302	chr7:101334679-101334680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199654289	chr7:101334708-101334709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200663421	chr7:101334713-101334714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73176060	chr7:101334714-101334715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181529251	chr7:101334743-101334744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545219202	chr7:101334786-101334787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569696932	chr7:101334822-101334823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569684261	chr7:101334879-101334880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112188777	chr7:101334901-101334902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112018045	chr7:101334909-101334910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138179234	chr7:101334917-101334918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373986427	chr7:101334918-101334919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537063351	chr7:101334944-101334945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540850218	chr7:101334971-101334972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561248303	chr7:101334988-101334989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186358296	chr7:101335027-101335028	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573787857	chr7:101335028-101335029	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101331400-101334000	Enhancers	Fetal Intestine Small	intestine
2	chr7:101332000-101333800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr7:101332000-101334000	Enhancers	Duodenum Mucosa	Duodenum
4	chr7:101332000-101334000	Enhancers	Fetal Intestine Large	intestine
5	chr7:101332000-101376800	Weak transcription	Right Atrium	heart
6	chr7:101332200-101335000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:101332200-101335200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:101332200-101335200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:101332200-101335200	Weak transcription	Pancreas	Pancrea
10	chr7:101332200-101335200	Weak transcription	Thymus	Thymus
11	chr7:101332200-101335400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:101332200-101335400	Weak transcription	Fetal Thymus	thymus
13	chr7:101332400-101333800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:101332400-101334600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:101332400-101334600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:101332400-101335000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:101332400-101335200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:101332400-101335200	Weak transcription	A549	lung
19	chr7:101332400-101335200	Weak transcription	GM12878-XiMat	blood
20	chr7:101332600-101334000	Bivalent Enhancer	HepG2	liver
21	chr7:101332600-101335200	Weak transcription	Liver	Liver
22	chr7:101332600-101335600	Weak transcription	Hela-S3	cervix
23	chr7:101332600-101337000	Weak transcription	Placenta	Placenta
24	chr7:101333000-101333800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:101333000-101333800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:101333000-101335400	Weak transcription	Spleen	Spleen
27	chr7:101333200-101333800	Bivalent Enhancer	Fetal Stomach	stomach
28	chr7:101333200-101334000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:101333200-101334000	Enhancers	Fetal Heart	heart
30	chr7:101333200-101334000	Enhancers	Fetal Muscle Leg	muscle
31	chr7:101333400-101333800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:101333400-101333800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:101333400-101333800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:101333400-101333800	Bivalent Enhancer	Fetal Brain Male	brain
35	chr7:101333400-101334000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:101333400-101334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:101333600-101333800	Enhancers	Colonic Mucosa	Colon
38	chr7:101333600-101333800	Enhancers	Fetal Kidney	kidney
39	chr7:101333600-101333800	Enhancers	Right Ventricle	heart
40	chr7:101333600-101334000	Enhancers	Gastric	stomach
41	chr7:101333600-101334000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr7:101333600-101334000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr7:101333600-101334000	Enhancers	Stomach Mucosa	stomach
44	chr7:101333800-101334000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr7:101333800-101335000	Weak transcription	Colonic Mucosa	Colon
46	chr7:101334000-101334400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:101334000-101335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:101334000-101335000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:101334000-101335000	Weak transcription	Fetal Intestine Small	intestine
50	chr7:101334000-101335200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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