Variant report

Variant	esv3358627
Chromosome Location	chr7:129031166-129031732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129030640..129032819-chr7:129060131..129063110,2	K562	blood:
2	chr7:129029585..129032413-chr7:129248847..129251671,2	K562	blood:
3	chr7:129018273..129020957-chr7:129031005..129033458,2	K562	blood:
4	chr7:129028946..129031606-chr7:129035556..129037411,2	K562	blood:
5	chr7:129028946..129033596-chr7:129035556..129037411,4	K562	blood:
6	chr7:129030351..129032191-chr7:129101591..129103111,2	K562	blood:

Variant related genes	Relation type
ENSG00000106459	chromatin interactions
ENSG00000273329	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544889435	chr7:129031168-129031169	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs560365143	chr7:129031241-129031242	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs4731572	chr7:129031242-129031243	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs35060087	chr7:129031252-129031253	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78002840	chr7:129031256-129031257	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150044947	chr7:129031297-129031298	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550622409	chr7:129031333-129031334	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs74492015	chr7:129031368-129031369	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531816681	chr7:129031376-129031377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533323077	chr7:129031388-129031389	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530533392	chr7:129031428-129031429	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551716091	chr7:129031467-129031468	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557748241	chr7:129031504-129031505	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145403602	chr7:129031507-129031508	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201238470	chr7:129031510-129031511	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs534266162	chr7:129031609-129031610	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs149231391	chr7:129031672-129031673	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128989200-129044200	Weak transcription	Ovary	ovary
2	chr7:129006200-129046000	Weak transcription	Aorta	Aorta
3	chr7:129008200-129035000	Weak transcription	Psoas Muscle	Psoas
4	chr7:129008400-129044200	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:129008400-129073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:129008600-129037200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:129008800-129035000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:129008800-129035000	Weak transcription	Fetal Stomach	stomach
9	chr7:129008800-129035200	Weak transcription	Lung	lung
10	chr7:129008800-129039800	Weak transcription	Placenta	Placenta
11	chr7:129010400-129041000	Weak transcription	Esophagus	oesophagus
12	chr7:129015800-129053400	Weak transcription	Fetal Lung	lung
13	chr7:129016000-129062400	Weak transcription	Pancreas	Pancrea
14	chr7:129016000-129071400	Weak transcription	Small Intestine	intestine
15	chr7:129016400-129052400	Weak transcription	Fetal Kidney	kidney
16	chr7:129016600-129035000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:129016600-129055200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:129017400-129035000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:129017400-129041000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:129017400-129051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:129017400-129069200	Weak transcription	Stomach Mucosa	stomach
22	chr7:129017400-129073000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:129017600-129036800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:129017600-129036800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:129017600-129041000	Weak transcription	Hela-S3	cervix
26	chr7:129017600-129041000	Weak transcription	HMEC	breast
27	chr7:129017800-129037000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:129017800-129064600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:129018400-129035000	Weak transcription	Gastric	stomach
30	chr7:129018400-129070000	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:129019400-129070800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:129019600-129034000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr7:129019800-129066200	Weak transcription	Thymus	Thymus
34	chr7:129020000-129064600	Weak transcription	Spleen	Spleen
35	chr7:129020200-129035000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:129020400-129035000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:129022000-129031200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:129022000-129041200	Weak transcription	GM12878-XiMat	blood
39	chr7:129023000-129047800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:129023800-129035000	Weak transcription	Left Ventricle	heart
41	chr7:129023800-129039200	Weak transcription	NHEK	skin
42	chr7:129023800-129040000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:129025600-129041000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:129025600-129046200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:129025800-129042400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:129026200-129035000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:129026800-129033000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:129026800-129060600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr7:129027000-129032400	Strong transcription	Primary T cells from cord blood	blood
50	chr7:129027600-129033200	Strong transcription	Duodenum Mucosa	Duodenum

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