Variant report

Variant	esv3394473
Chromosome Location	chr7:128859216-128861064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:128859560-128859710	HMEC	breast:	n/a	n/a
2	RAD21	chr7:128857656-128859421	SK-N-SH	brain:	n/a	chr7:128858563-128858582

No.	Distal block	Cell Line	Cell type
1	chr7:128851142..128852773-chr7:128858128..128859971,2	K562	blood:
2	chr7:128858187..128860723-chr7:128902918..128905516,2	K562	blood:
3	chr7:128857025..128860018-chr7:128863013..128866777,4	K562	blood:
4	chr7:128857025..128860193-chr7:128862972..128866777,5	K562	blood:
5	chr7:128858109..128859536-chr7:128937762..128939140,17	K562	blood:

Variant related genes	Relation type
AHCYL2	TF binding region
ENSG00000158467	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535913270	chr7:128859232-128859233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375853279	chr7:128859249-128859250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2718111	chr7:128859284-128859285	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2465900	chr7:128859394-128859395	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573302425	chr7:128859412-128859413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534709677	chr7:128859460-128859461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555715103	chr7:128859467-128859468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192486801	chr7:128859468-128859469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113281281	chr7:128859480-128859481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112692890	chr7:128859529-128859530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116002359	chr7:128859542-128859543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544653218	chr7:128859662-128859663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559808396	chr7:128859670-128859671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527430454	chr7:128859691-128859692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549139285	chr7:128859695-128859696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560891037	chr7:128859705-128859706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs33933329	chr7:128859788-128859789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75137845	chr7:128859789-128859790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58806966	chr7:128859799-128859800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74981069	chr7:128859800-128859801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201806946	chr7:128859801-128859802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200613571	chr7:128859803-128859804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201552216	chr7:128859804-128859805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180921988	chr7:128859846-128859847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550059092	chr7:128859847-128859848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs57426530	chr7:128859864-128859865	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539836923	chr7:128859874-128859875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551837068	chr7:128859884-128859885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566938548	chr7:128859891-128859892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28558472	chr7:128859892-128859893	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28682586	chr7:128859925-128859926	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs80101288	chr7:128859930-128859931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs28450883	chr7:128859931-128859932	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200884992	chr7:128859946-128859947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112451435	chr7:128859947-128859948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs78856118	chr7:128859950-128859951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75224334	chr7:128859951-128859952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs28705018	chr7:128859961-128859962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28538742	chr7:128859962-128859963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542323004	chr7:128859966-128859967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs3993430	chr7:128859975-128859976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs3993419	chr7:128859976-128859977	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs3993420	chr7:128859978-128859979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565165780	chr7:128859979-128859980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369157039	chr7:128859999-128860000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs3993421	chr7:128860001-128860002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373159556	chr7:128860006-128860007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74647739	chr7:128860010-128860011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76132413	chr7:128860012-128860013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79469439	chr7:128860033-128860034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128830600-128861800	Weak transcription	Thymus	Thymus
2	chr7:128842400-128864000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:128843200-128864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:128843400-128864200	Weak transcription	Spleen	Spleen
5	chr7:128844600-128863800	Weak transcription	Fetal Brain Male	brain
6	chr7:128844800-128864000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:128845800-128863600	Weak transcription	Colonic Mucosa	Colon
8	chr7:128846600-128862200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:128847200-128864000	Weak transcription	Psoas Muscle	Psoas
10	chr7:128847600-128864000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:128849800-128864000	Weak transcription	Fetal Kidney	kidney
12	chr7:128851600-128864200	Weak transcription	Esophagus	oesophagus
13	chr7:128852600-128864000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:128852800-128861600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:128852800-128861800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:128853000-128863800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:128853200-128863600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:128853200-128863800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:128853200-128864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:128853200-128864000	Weak transcription	Fetal Lung	lung
21	chr7:128853400-128864400	Weak transcription	Ovary	ovary
22	chr7:128854200-128864000	Weak transcription	Right Atrium	heart
23	chr7:128855800-128864000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:128856400-128863800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:128858600-128859800	Weak transcription	Left Ventricle	heart
26	chr7:128858600-128861800	Weak transcription	Dnd41	blood
27	chr7:128858600-128863800	Weak transcription	Liver	Liver
28	chr7:128858600-128863800	Weak transcription	HMEC	breast
29	chr7:128858800-128861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:128858800-128861600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:128858800-128861600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:128858800-128861800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:128858800-128861800	Weak transcription	Brain Anterior Caudate	brain
34	chr7:128858800-128861800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:128858800-128862000	Weak transcription	HepG2	liver
36	chr7:128858800-128863800	Weak transcription	Fetal Intestine Large	intestine
37	chr7:128858800-128864000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:128858800-128864000	Weak transcription	Brain Angular Gyrus	brain
39	chr7:128858800-128864000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:128858800-128864000	Weak transcription	Brain Substantia Nigra	brain
41	chr7:128858800-128864000	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:128858800-128864000	Weak transcription	Fetal Intestine Small	intestine
43	chr7:128859000-128861400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:128859000-128861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:128859000-128861600	Weak transcription	Primary B cells from cord blood	blood
46	chr7:128859000-128861600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:128859000-128861600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:128859000-128861800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:128859000-128861800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:128859000-128861800	Weak transcription	Monocytes-CD14+_RO01746	blood

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