Variant report

Variant	esv3452689
Chromosome Location	chr1:213328606-213331677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213330345..213332641-chr1:213343084..213346080,2	K562	blood:
2	chr1:213327061..213328810-chr1:213341483..213343914,2	K562	blood:
3	chr1:213330161..213332655-chr1:213493132..213495039,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189066418	chr1:213328633-213328634	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150551403	chr1:213328641-213328642	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542623748	chr1:213328680-213328681	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560624354	chr1:213328683-213328684	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528203235	chr1:213328723-213328724	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374762958	chr1:213328727-213328728	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367570261	chr1:213328759-213328760	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181589200	chr1:213328765-213328766	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4951676	chr1:213328769-213328770	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs533441100	chr1:213328805-213328806	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74937597	chr1:213328824-213328825	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570335128	chr1:213328866-213328867	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140509735	chr1:213328893-213328894	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538456924	chr1:213328904-213328905	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113755235	chr1:213328908-213328909	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144275502	chr1:213328910-213328911	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541003476	chr1:213328918-213328919	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369923498	chr1:213328930-213328931	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536968174	chr1:213328944-213328945	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191996073	chr1:213328960-213328961	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553202059	chr1:213328963-213328964	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559280884	chr1:213328965-213328966	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184017109	chr1:213328975-213328976	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564280895	chr1:213329000-213329001	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571421925	chr1:213329027-213329028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186146224	chr1:213329139-213329140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs79351661	chr1:213329147-213329148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575519770	chr1:213329189-213329190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190952101	chr1:213329192-213329193	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554179980	chr1:213329193-213329194	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182805336	chr1:213329212-213329213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs572597331	chr1:213329289-213329290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs557065174	chr1:213329344-213329345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551469238	chr1:213329370-213329371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539984222	chr1:213329399-213329400	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs564639249	chr1:213329485-213329486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs2173398	chr1:213329502-213329503	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs112476014	chr1:213329511-213329512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545597477	chr1:213329520-213329521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2133174	chr1:213329564-213329565	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531264473	chr1:213329567-213329568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs147801748	chr1:213329580-213329581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540676088	chr1:213329585-213329586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567703843	chr1:213329668-213329669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs548526033	chr1:213329705-213329706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187238447	chr1:213329708-213329709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568317022	chr1:213329721-213329722	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547076967	chr1:213329736-213329737	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12074538	chr1:213329815-213329816	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538427859	chr1:213329832-213329833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:213301000-213374800	Weak transcription	HSMM	muscle
4	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:213309600-213329000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:213309600-213336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:213310000-213345800	Weak transcription	Lung	lung
9	chr1:213310000-213370400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:213310400-213333600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:213310400-213345800	Weak transcription	Ovary	ovary
12	chr1:213312000-213340200	Weak transcription	HSMMtube	muscle
13	chr1:213312200-213340000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:213312200-213343600	Weak transcription	HepG2	liver
15	chr1:213312400-213336000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:213313800-213336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:213316000-213340000	Weak transcription	Psoas Muscle	Psoas
18	chr1:213316400-213336200	Weak transcription	NH-A	brain
19	chr1:213317400-213349600	Weak transcription	Left Ventricle	heart
20	chr1:213317800-213331000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:213317800-213351600	Weak transcription	Fetal Kidney	kidney
22	chr1:213322200-213331600	Weak transcription	Brain Anterior Caudate	brain
23	chr1:213323000-213346000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:213323000-213349600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:213323200-213345400	Weak transcription	Primary B cells from cord blood	blood
26	chr1:213325200-213359600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:213325600-213353400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:213326200-213332600	Weak transcription	Adipose Nuclei	Adipose
29	chr1:213326600-213329400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:213327000-213351000	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:213327200-213329000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:213327400-213328800	Strong transcription	Primary T cells from cord blood	blood
34	chr1:213327400-213328800	Enhancers	Aorta	Aorta
35	chr1:213327400-213329000	Strong transcription	Fetal Intestine Large	intestine
36	chr1:213327400-213329000	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr1:213327400-213329000	Strong transcription	Fetal Stomach	stomach
38	chr1:213327800-213329000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:213327800-213345400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:213327800-213352800	Weak transcription	Esophagus	oesophagus
41	chr1:213328000-213329000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:213328000-213331000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:213328000-213336000	Weak transcription	NHDF-Ad	bronchial
44	chr1:213328000-213339400	Weak transcription	Stomach Mucosa	stomach
45	chr1:213328000-213358200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:213328200-213329000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:213328200-213331400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
49	chr1:213328400-213329000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr1:213328400-213331400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links