Variant report

Variant	esv3477109
Chromosome Location	chr7:6666188-6666754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6666282..6668533-chr7:6675191..6678454,4	MCF-7	breast:
2	chr7:6666562..6671587-chr7:6674314..6680724,9	MCF-7	breast:
3	chr7:6521808..6524278-chr7:6666674..6668575,2	K562	blood:

Variant related genes	Relation type
ENSG00000205903	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000269781	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559158900	chr7:6666188-6666189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577473561	chr7:6666191-6666192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189989429	chr7:6666196-6666197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558258798	chr7:6666207-6666208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530256954	chr7:6666212-6666213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541906417	chr7:6666233-6666234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560231244	chr7:6666273-6666274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144950395	chr7:6666285-6666286	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6962501	chr7:6666293-6666294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374668039	chr7:6666341-6666342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530746842	chr7:6666368-6666369	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552291993	chr7:6666399-6666400	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182532371	chr7:6666428-6666429	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs55797327	chr7:6666429-6666430	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550901173	chr7:6666430-6666431	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367766787	chr7:6666448-6666449	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536465948	chr7:6666458-6666459	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187224404	chr7:6666498-6666499	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2030798	chr7:6666501-6666502	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375397886	chr7:6666505-6666506	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558256999	chr7:6666532-6666533	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374738051	chr7:6666539-6666540	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150217080	chr7:6666563-6666564	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76062189	chr7:6666604-6666605	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538133470	chr7:6666620-6666621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138750210	chr7:6666650-6666651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61227395	chr7:6666654-6666655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555383606	chr7:6666660-6666661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117701984	chr7:6666706-6666707	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs145583775	chr7:6666737-6666738	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6656000-6666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:6656000-6676000	Weak transcription	Psoas Muscle	Psoas
3	chr7:6656200-6669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:6656200-6675800	Weak transcription	HSMM	muscle
5	chr7:6656600-6669200	Weak transcription	Fetal Heart	heart
6	chr7:6656800-6667000	Strong transcription	Fetal Stomach	stomach
7	chr7:6656800-6675800	Weak transcription	Fetal Brain Male	brain
8	chr7:6660200-6676000	Weak transcription	Colonic Mucosa	Colon
9	chr7:6661600-6669600	Weak transcription	HepG2	liver
10	chr7:6661800-6675800	Weak transcription	Pancreas	Pancrea
11	chr7:6661800-6676000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:6661800-6676200	Weak transcription	Right Atrium	heart
13	chr7:6662200-6667800	Weak transcription	Esophagus	oesophagus
14	chr7:6662800-6676000	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:6663200-6666800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:6663200-6667800	Weak transcription	Spleen	Spleen
17	chr7:6663200-6676000	Weak transcription	Brain Anterior Caudate	brain
18	chr7:6663200-6676000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:6663400-6669800	Weak transcription	Fetal Intestine Small	intestine
20	chr7:6663600-6667400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:6663600-6669800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:6663800-6667400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:6663800-6667600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:6663800-6667800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:6663800-6668000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:6663800-6668200	Weak transcription	Adipose Nuclei	Adipose
27	chr7:6663800-6669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:6663800-6669800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:6663800-6676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:6663800-6676000	Weak transcription	Brain Angular Gyrus	brain
31	chr7:6663800-6676000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:6663800-6676000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:6663800-6676000	Weak transcription	Fetal Intestine Large	intestine
34	chr7:6663800-6676000	Weak transcription	Gastric	stomach
35	chr7:6663800-6676000	Weak transcription	Left Ventricle	heart
36	chr7:6663800-6676000	Weak transcription	Lung	lung
37	chr7:6663800-6676000	Weak transcription	Right Ventricle	heart
38	chr7:6663800-6676000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:6664000-6668200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:6664000-6675800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:6664000-6676000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:6664200-6666200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:6664200-6669800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:6664200-6676000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:6664200-6676000	Weak transcription	Ovary	ovary
46	chr7:6664400-6675200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:6664400-6676000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:6665000-6668400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:6665200-6671200	Weak transcription	Aorta	Aorta
50	chr7:6665200-6675800	Weak transcription	Stomach Smooth Muscle	stomach

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