Variant report

Variant	esv2758122
Chromosome Location	chr7:83300506-83460112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83176511..83177359-chr7:83306453..83306965,2	MCF-7	breast:
2	chr7:83423084..83425253-chr7:83427372..83429085,2	K562	blood:
3	chr7:83456371..83459960-chr7:83460800..83464283,4	K562	blood:
4	chr7:83423084..83425253-chr7:83427372..83429085,2	K562	blood:
5	chr7:83286638..83289416-chr7:83307592..83310241,2	MCF-7	breast:
6	chr5:42182671..42183209-chr7:83415074..83415902,2	MCF-7	breast:
7	chr7:83420261..83421936-chr7:83439188..83441128,2	K562	blood:
8	chr7:83315115..83317340-chr7:83318179..83320541,2	MCF-7	breast:
9	chr7:83315115..83317340-chr7:83318179..83320541,2	MCF-7	breast:
10	chr7:83276388..83278355-chr7:83300202..83302453,2	MCF-7	breast:
11	chr7:83295134..83297291-chr7:83298108..83300813,3	MCF-7	breast:
12	chr7:83420261..83421936-chr7:83439188..83441128,2	K562	blood:
13	chr7:83456371..83458031-chr7:83460982..83463180,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170381	chromatin interactions

Extended variants
information (count: 2730 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2730 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550183004	chr7:83300531-83300532	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs661014	chr7:83300547-83300548	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575179510	chr7:83300557-83300558	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538620242	chr7:83300593-83300594	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1497331	chr7:83300615-83300616	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377199764	chr7:83300700-83300701	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74557207	chr7:83300733-83300734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371470784	chr7:83300759-83300760	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564230815	chr7:83300806-83300807	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75448397	chr7:83300833-83300834	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574505799	chr7:83300875-83300876	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543140113	chr7:83300876-83300877	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141235556	chr7:83300878-83300879	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs659632	chr7:83300913-83300914	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545772874	chr7:83300968-83300969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs76191183	chr7:83300969-83300970	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138881979	chr7:83300986-83300987	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540077635	chr7:83300994-83300995	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547996876	chr7:83301013-83301014	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560173902	chr7:83301028-83301029	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529035364	chr7:83301029-83301030	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571588619	chr7:83301067-83301068	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550028084	chr7:83301082-83301083	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192713741	chr7:83301100-83301101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542635153	chr7:83301119-83301120	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185013985	chr7:83301141-83301142	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148990761	chr7:83301182-83301183	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184363769	chr7:83301195-83301196	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189171747	chr7:83301275-83301276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs579811	chr7:83301316-83301317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551217037	chr7:83301333-83301334	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs199822215	chr7:83301404-83301405	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139222169	chr7:83301410-83301411	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554785374	chr7:83301445-83301446	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs646631	chr7:83301458-83301459	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533546907	chr7:83301490-83301491	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143800724	chr7:83301527-83301528	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556786244	chr7:83301541-83301542	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs471995	chr7:83301543-83301544	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577001342	chr7:83301649-83301650	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545860181	chr7:83301697-83301698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75859305	chr7:83301703-83301704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530953874	chr7:83301716-83301717	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138491261	chr7:83301730-83301731	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75910308	chr7:83301766-83301767	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369667310	chr7:83301784-83301785	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs644753	chr7:83301900-83301901	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181923520	chr7:83301913-83301914	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2645972	chr7:83301923-83301924	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142717418	chr7:83301951-83301952	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83298600-83302000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:83298600-83302000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:83298800-83302000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:83298800-83302200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:83299000-83300600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:83299000-83302000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:83299000-83304400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:83299200-83300600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:83300200-83302000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:83300200-83302000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:83300400-83302000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:83300600-83301600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:83300600-83301800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:83300800-83301000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:83300800-83302200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:83301000-83301800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:83301400-83302000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:83301600-83302000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:83301600-83313400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:83301800-83302000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:83301800-83302200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:83301800-83303800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:83302000-83303000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:83302000-83304200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:83302000-83304400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:83302000-83304800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:83302000-83305400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:83302000-83306400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:83302200-83304000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:83302200-83306600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:83303000-83305600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:83304000-83304200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:83304000-83304200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:83304200-83304400	ZNF genes & repeats	Fetal Stomach	stomach
35	chr7:83304200-83304600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:83304200-83304800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:83304200-83305000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:83304200-83306200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:83304400-83304600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:83304400-83305400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:83304400-83306400	Weak transcription	Fetal Stomach	stomach
42	chr7:83304400-83306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:83304800-83305200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:83304800-83305600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:83305200-83305400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:83305200-83305600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:83305400-83305600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:83305400-83306400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:83305400-83306400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:83305400-83307800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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