Variant report

Variant	esv3384093
Chromosome Location	chr7:86702735-86703087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86701831..86703604-chr7:86708934..86710753,2	K562	blood:
2	chr7:86700000..86704458-chr7:86705805..86710434,5	K562	blood:
3	chr7:86701144..86703992-chr7:86710903..86713321,2	K562	blood:
4	chr7:86684095..86686938-chr7:86700649..86703002,2	K562	blood:
5	chr7:86701206..86704097-chr7:86738586..86740262,2	K562	blood:

Variant related genes	Relation type
ENSG00000261462	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 74 )

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	rs567169388	chr7:86702740-86702741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144782547	chr7:86702746-86702747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187403272	chr7:86702752-86702753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs151326602	chr7:86702801-86702802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538339742	chr7:86702804-86702805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34214796	chr7:86702810-86702811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397889028	chr7:86702815-86702816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140586671	chr7:86702818-86702819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574817471	chr7:86702862-86702863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113992339	chr7:86702885-86702886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535477431	chr7:86702886-86702887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575856286	chr7:86702912-86702913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554468302	chr7:86702942-86702943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572783273	chr7:86702944-86702945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540101236	chr7:86702951-86702952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543181251	chr7:86702977-86702978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564757641	chr7:86702981-86702982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138166636	chr7:86703004-86703005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35652123	chr7:86703015-86703016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377311507	chr7:86703047-86703048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86702200-86703800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links