Variant report

Variant	esv3451953
Chromosome Location	chr1:212979379-212981477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212977806..212980707-chr1:213030715..213033244,2	K562	blood:
2	chr1:212976311..212977926-chr1:212979767..212982509,2	K562	blood:

Variant related genes	Relation type
ENSG00000162769	chromatin interactions
ENSG00000198468	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529235760	chr1:212979401-212979402	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11120030	chr1:212979481-212979482	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs188906171	chr1:212979542-212979543	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115006113	chr1:212979561-212979562	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116407254	chr1:212979630-212979631	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs578217124	chr1:212979640-212979641	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199803563	chr1:212979700-212979701	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs1032961	chr1:212979710-212979711	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138938081	chr1:212979711-212979712	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs67263404	chr1:212979712-212979713	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs75040098	chr1:212979728-212979729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs115081856	chr1:212979739-212979740	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs115857001	chr1:212979775-212979776	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534148377	chr1:212979776-212979777	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575782954	chr1:212979788-212979789	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554316024	chr1:212979789-212979790	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188160338	chr1:212979805-212979806	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs33999889	chr1:212979821-212979822	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112782251	chr1:212979851-212979852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374122235	chr1:212979852-212979853	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560882632	chr1:212979892-212979893	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191636577	chr1:212979899-212979900	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs12065945	chr1:212979903-212979904	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs1032962	chr1:212979950-212979951	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs1032963	chr1:212979984-212979985	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs184458612	chr1:212980003-212980004	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs201602055	chr1:212980021-212980022	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188852234	chr1:212980030-212980031	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs56214634	chr1:212980050-212980051	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562160035	chr1:212980061-212980062	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374871417	chr1:212980068-212980069	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200068932	chr1:212980089-212980090	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371340342	chr1:212980090-212980091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201400559	chr1:212980091-212980092	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371987238	chr1:212980110-212980111	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181421420	chr1:212980113-212980114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373795545	chr1:212980121-212980122	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs367550789	chr1:212980123-212980124	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs9430100	chr1:212980125-212980126	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12760101	chr1:212980127-212980128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs71147030	chr1:212980137-212980138	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11801231	chr1:212980143-212980144	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
43	rs529700048	chr1:212980159-212980160	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376821130	chr1:212980171-212980172	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs139303192	chr1:212980177-212980178	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
46	rs12077587	chr1:212980179-212980180	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs566493104	chr1:212980187-212980188	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372251826	chr1:212980189-212980190	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551283256	chr1:212980199-212980200	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs373149867	chr1:212980201-212980202	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Trisomy 5 syndrome	21098271	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

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212965800-212992600	Weak transcription	Lung	lung
2	chr1:212966000-212981200	Weak transcription	Esophagus	oesophagus
3	chr1:212966000-212983000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
5	chr1:212966200-212979800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:212966400-212984000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:212966400-212985600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:212966400-212988200	Weak transcription	Fetal Heart	heart
9	chr1:212966400-212989600	Weak transcription	Fetal Brain Male	brain
10	chr1:212966400-212990200	Weak transcription	Right Ventricle	heart
11	chr1:212966800-212989600	Weak transcription	Psoas Muscle	Psoas
12	chr1:212967000-212984400	Weak transcription	Spleen	Spleen
13	chr1:212967200-212984000	Weak transcription	NHDF-Ad	bronchial
14	chr1:212967200-212988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:212967200-212989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:212967200-212989600	Weak transcription	NHLF	lung
17	chr1:212968000-212980000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:212968000-212987400	Weak transcription	Fetal Intestine Large	intestine
19	chr1:212968400-212988000	Weak transcription	Stomach Mucosa	stomach
20	chr1:212968600-212980200	Weak transcription	HUVEC	blood vessel
21	chr1:212969000-212980000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:212969000-212980000	Strong transcription	Dnd41	blood
23	chr1:212969000-212982600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:212969000-212982600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:212969000-212983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:212969600-212989000	Weak transcription	HepG2	liver
27	chr1:212969600-212993000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:212970600-212982800	Weak transcription	Ovary	ovary
29	chr1:212970600-212985200	Weak transcription	Pancreas	Pancrea
30	chr1:212970600-212989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:212971000-212989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:212971200-212983800	Weak transcription	NH-A	brain
33	chr1:212971200-212990200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:212971400-212987600	Weak transcription	Small Intestine	intestine
35	chr1:212971400-212987800	Weak transcription	A549	lung
36	chr1:212971600-212988000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:212972000-212987800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:212972400-212983000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:212972400-212987800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:212972400-212993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:212972600-212979800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:212972600-212983200	Weak transcription	Gastric	stomach
43	chr1:212972600-212983600	Weak transcription	Fetal Kidney	kidney
44	chr1:212972600-212988000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:212972600-212988000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:212972600-212988000	Weak transcription	Fetal Intestine Small	intestine
47	chr1:212972600-212989800	Weak transcription	HSMMtube	muscle
48	chr1:212972600-212990200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:212973000-212988600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr1:212973200-212979600	Strong transcription	Monocytes-CD14+_RO01746	blood

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