Variant report

Variant	esv3421306
Chromosome Location	chr7:128028266-128031064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127986230..127989260-chr7:128028040..128030111,4	K562	blood:
2	chr7:127911086..127911789-chr7:128027439..128028326,2	K562	blood:
3	chr7:127996426..127998366-chr7:128029110..128031908,2	MCF-7	breast:
4	chr7:127981942..127985449-chr7:128028066..128032035,3	K562	blood:
5	chr7:127991021..127992566-chr7:128027560..128029110,2	MCF-7	breast:
6	chr7:128027615..128028518-chr7:128065500..128066027,2	MCF-7	breast:
7	chr7:128028657..128031513-chr7:128044635..128046587,2	MCF-7	breast:
8	chr7:127996352..127999445-chr7:128029289..128030923,3	K562	blood:
9	chr7:127988812..127991042-chr7:128030050..128032695,3	MCF-7	breast:
10	chr7:127987316..127989019-chr7:128027005..128028396,14	K562	blood:
11	chr7:128030852..128032361-chr7:128115441..128117582,2	MCF-7	breast:
12	chr7:127987698..127988606-chr7:128028908..128029761,2	K562	blood:
13	chr7:127986462..127988750-chr7:128027167..128028806,32	MCF-7	breast:
14	chr7:127987333..127988252-chr7:128027402..128028598,10	MCF-7	breast:
15	chr7:127999931..128002106-chr7:128027139..128029392,2	MCF-7	breast:
16	chr7:127993298..127995820-chr7:128029600..128032073,2	K562	blood:
17	chr7:127986440..127989411-chr7:128026158..128028647,3	MCF-7	breast:
18	chr7:127988808..127989792-chr7:128027493..128028392,2	MCF-7	breast:
19	chr7:127992082..127994842-chr7:128029852..128032073,3	K562	blood:
20	chr7:128027409..128028270-chr7:128065556..128066474,2	K562	blood:
21	chr7:127985563..127989260-chr7:128027649..128030802,6	K562	blood:
22	chr7:127989814..127992283-chr7:128027367..128029799,2	MCF-7	breast:
23	chr7:127978973..127980473-chr7:128029523..128031461,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238750	chromatin interactions
ENSG00000106348	chromatin interactions
ENSG00000224940	chromatin interactions
ENSG00000106344	chromatin interactions
ENSG00000165055	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569741539	chr7:128028281-128028282	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs149539235	chr7:128028322-128028323	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs558209697	chr7:128028323-128028324	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs6949295	chr7:128028330-128028331	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534428910	chr7:128028343-128028344	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552513524	chr7:128028353-128028354	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs574381085	chr7:128028376-128028377	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs564364380	chr7:128028443-128028444	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs542159567	chr7:128028474-128028475	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs557672821	chr7:128028545-128028546	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs575731296	chr7:128028576-128028577	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs189283678	chr7:128028636-128028637	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs546445865	chr7:128028637-128028638	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs143848667	chr7:128028705-128028706	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs532458514	chr7:128028765-128028766	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs540738705	chr7:128028768-128028769	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs75565707	chr7:128028879-128028880	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs192542470	chr7:128028916-128028917	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs535735325	chr7:128029020-128029021	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs184584189	chr7:128029068-128029069	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs571319602	chr7:128029087-128029088	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs75576678	chr7:128029103-128029104	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs143210615	chr7:128029198-128029199	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs112861971	chr7:128029326-128029327	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs146691327	chr7:128029327-128029328	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs139221145	chr7:128029335-128029336	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs546339050	chr7:128029425-128029426	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs567957383	chr7:128029436-128029437	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs535464278	chr7:128029438-128029439	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs557346378	chr7:128029474-128029475	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs575863973	chr7:128029479-128029480	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs117498510	chr7:128029480-128029481	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs558341597	chr7:128029527-128029528	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs573478662	chr7:128029543-128029544	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs540726594	chr7:128029583-128029584	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs562244562	chr7:128029645-128029646	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs573930111	chr7:128029670-128029671	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs544566736	chr7:128029707-128029708	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs143762124	chr7:128029711-128029712	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs530678418	chr7:128029713-128029714	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs189025787	chr7:128029723-128029724	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs563938547	chr7:128029766-128029767	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs528314022	chr7:128029769-128029770	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs181466893	chr7:128029779-128029780	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs546360413	chr7:128029801-128029802	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs568173567	chr7:128029802-128029803	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs151302227	chr7:128029849-128029850	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs550513793	chr7:128029854-128029855	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs116863476	chr7:128029856-128029857	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs74543914	chr7:128029877-128029878	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
3	chr7:128021400-128031200	Weak transcription	Lung	lung
4	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128021800-128031200	Weak transcription	A549	lung
6	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:128024200-128029800	Weak transcription	Esophagus	oesophagus
8	chr7:128024200-128034600	Weak transcription	HMEC	breast
9	chr7:128024600-128031800	Weak transcription	Aorta	Aorta
10	chr7:128026600-128028400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:128026600-128030000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:128026600-128030200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:128026600-128030400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:128026800-128030400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:128027200-128030200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:128027600-128028400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr7:128027600-128028400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:128027600-128028400	Bivalent Enhancer	Osteobl	bone
19	chr7:128027600-128028800	Enhancers	Primary B cells from cord blood	blood
20	chr7:128027600-128033200	Weak transcription	Brain Angular Gyrus	brain
21	chr7:128027800-128028400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:128027800-128028400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr7:128027800-128029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:128027800-128029200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:128027800-128029600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:128027800-128031800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:128027800-128031800	Weak transcription	Ovary	ovary
28	chr7:128027800-128033800	Weak transcription	Brain Anterior Caudate	brain
29	chr7:128027800-128042800	Weak transcription	Fetal Brain Male	brain
30	chr7:128028000-128028400	Bivalent Enhancer	Fetal Heart	heart
31	chr7:128028000-128028400	Bivalent Enhancer	Fetal Kidney	kidney
32	chr7:128028000-128028400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr7:128028000-128028400	Enhancers	K562	blood
34	chr7:128028000-128031600	Weak transcription	Brain Germinal Matrix	brain
35	chr7:128028000-128031600	Weak transcription	Fetal Brain Female	brain
36	chr7:128028000-128031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:128028000-128032400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:128028000-128035600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
40	chr7:128028200-128028800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:128028200-128029200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:128028200-128029200	Weak transcription	Spleen	Spleen
43	chr7:128028200-128031400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:128028200-128031600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:128028200-128031600	Weak transcription	Adipose Nuclei	Adipose
46	chr7:128028200-128031800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:128028200-128032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:128028200-128033000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:128028200-128033200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:128028200-128033200	Weak transcription	Brain Substantia Nigra	brain

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