Variant report

Variant	esv3377887
Chromosome Location	chr7:127776026-127776644
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127775695..127776672-chr7:127838301..127838940,2	K562	blood:
2	chr7:127774436..127777299-chr7:127779150..127782660,3	K562	blood:
3	chr7:127773375..127775632-chr7:127776520..127778934,2	K562	blood:
4	chr7:127224953..127226743-chr7:127774765..127776324,2	K562	blood:
5	chr7:127775426..127776276-chr7:127848207..127849130,6	MCF-7	breast:
6	chr7:127770664..127774572-chr7:127774612..127778986,4	K562	blood:
7	chr7:127770457..127772622-chr7:127774413..127777391,3	MCF-7	breast:
8	chr7:127775670..127776293-chr7:127847687..127848630,2	K562	blood:
9	chr7:127776325..127778425-chr7:127848466..127850117,2	K562	blood:
10	chr7:127775450..127776513-chr7:127849436..127850519,6	MCF-7	breast:
11	chr7:127775454..127776695-chr7:127847926..127849197,18	MCF-7	breast:
12	chr7:127775768..127776602-chr7:127839565..127840318,2	MCF-7	breast:
13	chr7:127775242..127776690-chr7:127849539..127850451,13	K562	blood:
14	chr7:127775194..127776324-chr7:127839452..127840478,4	MCF-7	breast:
15	chr7:127775629..127777562-chr7:127847751..127849671,2	MCF-7	breast:
16	chr7:127675627..127676293-chr7:127775515..127776488,2	MCF-7	breast:
17	chr7:127775486..127776605-chr7:127849515..127850418,16	MCF-7	breast:
18	chr7:127290259..127292033-chr7:127774841..127777045,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179562	chromatin interactions
ENSG00000207705	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190991163	chr7:127776039-127776040	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182381508	chr7:127776097-127776098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7790305	chr7:127776107-127776108	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560788568	chr7:127776114-127776115	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527967004	chr7:127776115-127776116	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7790439	chr7:127776139-127776140	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7790858	chr7:127776159-127776160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs322754	chr7:127776167-127776168	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570337776	chr7:127776188-127776189	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571672868	chr7:127776240-127776241	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539270042	chr7:127776256-127776257	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189063938	chr7:127776310-127776311	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs322753	chr7:127776368-127776369	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533822872	chr7:127776369-127776370	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs367592940	chr7:127776434-127776435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554986562	chr7:127776439-127776440	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573553977	chr7:127776461-127776462	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534492293	chr7:127776475-127776476	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370468914	chr7:127776516-127776517	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115144867	chr7:127776522-127776523	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs193034736	chr7:127776569-127776570	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577637659	chr7:127776602-127776603	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545644268	chr7:127776613-127776614	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375518119	chr7:127776630-127776631	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Autism	22495311	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
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	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

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127774600-127776600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:127774600-127776800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:127774800-127776600	Bivalent Enhancer	Fetal Heart	heart
4	chr7:127774800-127776800	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr7:127775200-127776600	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr7:127775200-127776800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:127775200-127776800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:127775200-127776800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:127775400-127776400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr7:127775400-127776600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:127775400-127776600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
12	chr7:127775400-127776600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr7:127775400-127776600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr7:127775400-127776800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:127775400-127776800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:127775600-127776200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:127775600-127776200	Active TSS	Brain Substantia Nigra	brain
18	chr7:127775600-127776400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr7:127775600-127776400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:127775600-127776400	Active TSS	Aorta	Aorta
21	chr7:127775600-127776400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr7:127775600-127776400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr7:127775600-127776600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:127775600-127776600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:127775600-127776600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr7:127775600-127776600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
27	chr7:127775600-127776600	Enhancers	Lung	lung
28	chr7:127775600-127776600	Bivalent/Poised TSS	A549	lung
29	chr7:127775600-127776600	Flanking Bivalent TSS/Enh	Dnd41	blood
30	chr7:127775600-127776600	Bivalent/Poised TSS	HSMMtube	muscle
31	chr7:127775600-127776800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:127775600-127776800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:127775600-127776800	Active TSS	Brain Angular Gyrus	brain
34	chr7:127775800-127776200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:127775800-127776200	Active TSS	Primary T cells from cord blood	blood
36	chr7:127775800-127776200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr7:127775800-127776200	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr7:127775800-127776200	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:127775800-127776200	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr7:127775800-127776200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:127775800-127776200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr7:127775800-127776200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
43	chr7:127775800-127776200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:127775800-127776200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:127775800-127776200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:127775800-127776200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:127775800-127776200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
48	chr7:127775800-127776200	Bivalent/Poised TSS	Liver	Liver
49	chr7:127775800-127776200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr7:127775800-127776200	Bivalent/Poised TSS	Esophagus	oesophagus

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