Variant report

Variant	esv3367991
Chromosome Location	chr7:66052417-66055415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66046074..66047727-chr7:66051992..66054807,2	K562	blood:
2	chr7:66044695..66047717-chr7:66050273..66053007,3	K562	blood:
3	chr7:66050815..66053279-chr7:66056186..66059102,2	K562	blood:
4	chr7:66054686..66058308-chr7:66092199..66095155,8	MCF-7	breast:
5	chr7:66051779..66054394-chr7:66057602..66059398,2	K562	blood:
6	chr7:66052648..66055044-chr7:66119940..66122450,2	K562	blood:

Variant related genes	Relation type
ENSG00000243335	chromatin interactions
ENSG00000232559	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13437901	chr7:66052441-66052442	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62467805	chr7:66052470-66052471	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs567164114	chr7:66052489-66052490	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538202082	chr7:66052495-66052496	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553731627	chr7:66052564-66052565	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114432812	chr7:66052590-66052591	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568555470	chr7:66052618-66052619	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79107331	chr7:66052623-66052624	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs80302628	chr7:66052625-66052626	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367772758	chr7:66052626-66052627	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565217751	chr7:66052627-66052628	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs202141021	chr7:66052641-66052642	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140408203	chr7:66052662-66052663	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554668886	chr7:66052695-66052696	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149682670	chr7:66052709-66052710	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540429831	chr7:66052717-66052718	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7357230	chr7:66052739-66052740	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs74716738	chr7:66052744-66052745	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546158010	chr7:66052751-66052752	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563479505	chr7:66052755-66052756	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565262679	chr7:66052776-66052777	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192266596	chr7:66052784-66052785	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544351029	chr7:66052789-66052790	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534047455	chr7:66052848-66052849	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142990870	chr7:66052853-66052854	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547176640	chr7:66052854-66052855	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566772527	chr7:66052876-66052877	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7357347	chr7:66052891-66052892	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7357085	chr7:66052893-66052894	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112644544	chr7:66052897-66052898	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7357090	chr7:66052966-66052967	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183657689	chr7:66052980-66052981	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552489078	chr7:66052988-66052989	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532409927	chr7:66052993-66052994	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34844313	chr7:66052994-66052995	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs397889412	chr7:66053003-66053004	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546096119	chr7:66053027-66053028	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537460675	chr7:66053102-66053103	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554324753	chr7:66053105-66053106	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568149147	chr7:66053106-66053107	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533696008	chr7:66053150-66053151	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553922779	chr7:66053154-66053155	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187018766	chr7:66053158-66053159	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556520126	chr7:66053162-66053163	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376275849	chr7:66053232-66053233	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368966928	chr7:66053252-66053253	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200857329	chr7:66053280-66053281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555436457	chr7:66053284-66053285	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs55885897	chr7:66053303-66053304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371720008	chr7:66053304-66053305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:66021800-66056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:66023200-66055400	Weak transcription	Fetal Brain Male	brain
5	chr7:66024200-66055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:66024200-66055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:66037600-66056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:66037800-66054800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:66038000-66056200	Weak transcription	Colonic Mucosa	Colon
10	chr7:66038200-66055400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:66038200-66055800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:66038400-66055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:66038800-66055400	Weak transcription	Fetal Lung	lung
14	chr7:66039200-66054600	Weak transcription	Fetal Brain Female	brain
15	chr7:66039400-66054200	Weak transcription	Right Ventricle	heart
16	chr7:66039400-66054200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:66039400-66055400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:66039400-66055400	Weak transcription	Fetal Kidney	kidney
19	chr7:66039400-66055400	Weak transcription	HUVEC	blood vessel
20	chr7:66039400-66055400	Weak transcription	NH-A	brain
21	chr7:66039600-66054800	Weak transcription	Esophagus	oesophagus
22	chr7:66039800-66055400	Weak transcription	HSMMtube	muscle
23	chr7:66040200-66056200	Weak transcription	Aorta	Aorta
24	chr7:66042000-66054600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:66042000-66054600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:66042000-66055800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:66042200-66053800	Weak transcription	Hela-S3	cervix
28	chr7:66042200-66055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:66043000-66055400	Weak transcription	GM12878-XiMat	blood
30	chr7:66044600-66052600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:66045000-66055200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:66045200-66055800	Weak transcription	Brain Angular Gyrus	brain
33	chr7:66046400-66055400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:66046600-66055200	Weak transcription	Gastric	stomach
35	chr7:66048000-66055200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:66048800-66052600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:66048800-66055200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:66049000-66052800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:66049000-66053200	Weak transcription	HMEC	breast
40	chr7:66049000-66054200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:66049000-66054600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:66049000-66054600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:66049000-66054600	Weak transcription	Brain Anterior Caudate	brain
44	chr7:66049000-66054600	Weak transcription	Fetal Thymus	thymus
45	chr7:66049000-66054600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:66049000-66055200	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:66049000-66055400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:66049000-66055400	Weak transcription	Thymus	Thymus
49	chr7:66049000-66055600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:66049000-66055800	Weak transcription	H1 Cell Line	embryonic stem cell

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