Variant report

Variant	esv3382905
Chromosome Location	chr7:6485158-6485402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6481370..6483042-chr7:6483146..6485535,2	MCF-7	breast:
2	chr7:6474092..6477009-chr7:6483600..6487126,3	K562	blood:
3	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136240	chromatin interactions
ENSG00000269781	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12702510	chr7:6485196-6485197	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549939564	chr7:6485197-6485198	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs66516944	chr7:6485255-6485256	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535788622	chr7:6485271-6485272	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs34085659	chr7:6485286-6485287	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs554415543	chr7:6485290-6485291	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs34056700	chr7:6485305-6485306	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs192808701	chr7:6485322-6485323	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs539777641	chr7:6485325-6485326	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs372035409	chr7:6485346-6485347	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs558321725	chr7:6485354-6485355	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs375235422	chr7:6485390-6485391	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs185270771	chr7:6485391-6485392	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
2	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:6465000-6486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:6465800-6486400	Weak transcription	Colonic Mucosa	Colon
5	chr7:6466000-6486400	Weak transcription	Aorta	Aorta
6	chr7:6476200-6486400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:6476400-6486400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:6478800-6485600	Strong transcription	Fetal Intestine Small	intestine
9	chr7:6478800-6486000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:6478800-6486600	Weak transcription	Fetal Heart	heart
11	chr7:6479000-6485400	Strong transcription	Fetal Intestine Large	intestine
12	chr7:6479000-6485400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr7:6479000-6486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:6479200-6486400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:6479400-6486400	Weak transcription	Right Atrium	heart
16	chr7:6479600-6485600	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:6479800-6485800	Strong transcription	Fetal Thymus	thymus
18	chr7:6480000-6485600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:6480600-6485600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:6481000-6485800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:6481200-6485600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr7:6481200-6485800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:6481200-6486000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:6481200-6486000	Strong transcription	Fetal Stomach	stomach
25	chr7:6481400-6485200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:6481400-6485200	Strong transcription	Ovary	ovary
27	chr7:6481400-6485400	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr7:6481400-6485400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:6481400-6485400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:6481400-6485400	Strong transcription	Thymus	Thymus
31	chr7:6481400-6485400	Strong transcription	HepG2	liver
32	chr7:6481400-6485800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr7:6481400-6485800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:6481400-6485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:6481400-6485800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:6481400-6485800	Genic enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:6481400-6485800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:6481400-6485800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr7:6481400-6486400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:6481600-6485400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:6481600-6485400	Strong transcription	Brain Hippocampus Middle	brain
42	chr7:6481600-6485600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr7:6481600-6485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:6481600-6485800	Strong transcription	Liver	Liver
45	chr7:6481600-6485800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:6481600-6485800	Strong transcription	Spleen	Spleen
47	chr7:6481800-6485200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:6481800-6485600	Strong transcription	Adipose Nuclei	Adipose
49	chr7:6481800-6485800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:6481800-6485800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links