Variant report

Variant	esv3391653
Chromosome Location	chr7:87005932-87006519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86972969..86975918-chr7:87004365..87006027,2	K562	blood:
2	chr7:86971875..86975040-chr7:87004120..87006743,3	MCF-7	breast:
3	chr7:86946860..86949109-chr7:87005374..87008046,2	MCF-7	breast:
4	chr7:87005406..87005998-chr7:87044003..87044625,2	MCF-7	breast:
5	chr7:87006049..87008428-chr7:87014986..87016616,2	MCF-7	breast:
6	chr7:86973852..86975813-chr7:87005405..87007155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005469	chromatin interactions
ENSG00000182165	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200986779	chr7:87005950-87005951	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557722837	chr7:87005993-87005994	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77463367	chr7:87006034-87006035	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs386715513	chr7:87006052-87006053	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs187129754	chr7:87006053-87006054	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200827147	chr7:87006081-87006082	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574118170	chr7:87006093-87006094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs75407868	chr7:87006131-87006132	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560018196	chr7:87006142-87006143	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533650038	chr7:87006156-87006157	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552141899	chr7:87006187-87006188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563268413	chr7:87006281-87006282	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116655160	chr7:87006286-87006287	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs73196416	chr7:87006287-87006288	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201773722	chr7:87006363-87006364	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs567369131	chr7:87006385-87006386	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs190622747	chr7:87006416-87006417	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546365903	chr7:87006469-87006470	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571151646	chr7:87006481-87006482	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182862740	chr7:87006514-87006515	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86975600-87025800	Weak transcription	Gastric	stomach
2	chr7:86975600-87029800	Weak transcription	Psoas Muscle	Psoas
3	chr7:86975800-87031000	Weak transcription	Pancreas	Pancrea
4	chr7:86976800-87016000	Weak transcription	Aorta	Aorta
5	chr7:86979400-87024600	Weak transcription	Small Intestine	intestine
6	chr7:86980000-87085600	Weak transcription	Right Ventricle	heart
7	chr7:86980200-87011800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:86980200-87020400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:86980200-87028600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:86982400-87027600	Weak transcription	HSMMtube	muscle
11	chr7:86983600-87027000	Weak transcription	Colonic Mucosa	Colon
12	chr7:86983800-87016000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:86983800-87027800	Weak transcription	Brain Substantia Nigra	brain
14	chr7:86984000-87006800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:86984000-87011600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:86984800-87027000	Weak transcription	Thymus	Thymus
17	chr7:86985200-87011600	Weak transcription	GM12878-XiMat	blood
18	chr7:86985200-87015800	Weak transcription	Fetal Kidney	kidney
19	chr7:86985200-87027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:86985400-87018000	Weak transcription	Brain Germinal Matrix	brain
21	chr7:86985400-87027600	Weak transcription	NHLF	lung
22	chr7:86985600-87011000	Weak transcription	Placenta	Placenta
23	chr7:86985600-87017000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:86985600-87017000	Weak transcription	Fetal Thymus	thymus
25	chr7:86985600-87026200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:86986000-87011600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:86986600-87011600	Weak transcription	Ovary	ovary
28	chr7:86987000-87007600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:86987000-87015800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:86987000-87016000	Weak transcription	Fetal Stomach	stomach
31	chr7:86987000-87016000	Weak transcription	Lung	lung
32	chr7:86987000-87024400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:86987000-87028400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:86987000-87051800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:86987200-87016000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:86987400-87022200	Weak transcription	Brain Angular Gyrus	brain
37	chr7:86987400-87022800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:86987400-87024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:86987400-87027800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:86987400-87028400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:86987600-87007800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:86987600-87024400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:86988400-87028000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:86988600-87014000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:86989000-87027600	Weak transcription	NH-A	brain
46	chr7:86989000-87027600	Weak transcription	Osteobl	bone
47	chr7:86989400-87022200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:86989400-87027800	Weak transcription	HSMM	muscle
49	chr7:86989600-87011600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:86991600-87015800	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links