Variant report

Variant	esv3404722
Chromosome Location	chr1:212493354-212496202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377638269	chr1:212493359-212493360	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112703791	chr1:212493363-212493364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539523653	chr1:212493389-212493390	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375979018	chr1:212493390-212493391	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532714797	chr1:212493432-212493433	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374628632	chr1:212493437-212493438	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562492332	chr1:212493440-212493441	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577170622	chr1:212493445-212493446	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4951587	chr1:212493494-212493495	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs368116620	chr1:212493542-212493543	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372229987	chr1:212493556-212493557	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189637289	chr1:212493583-212493584	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566108796	chr1:212493624-212493625	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537726961	chr1:212493643-212493644	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527602810	chr1:212493647-212493648	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552017035	chr1:212493648-212493649	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570321817	chr1:212493665-212493666	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537600509	chr1:212493700-212493701	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373639411	chr1:212493702-212493703	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556318955	chr1:212493731-212493732	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569289886	chr1:212493749-212493750	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367855288	chr1:212493761-212493762	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536731577	chr1:212493783-212493784	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372200464	chr1:212493801-212493802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs375453826	chr1:212493817-212493818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs368193572	chr1:212493828-212493829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372058584	chr1:212493831-212493832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573242934	chr1:212493835-212493836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs540939006	chr1:212493852-212493853	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs559249717	chr1:212493865-212493866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577609533	chr1:212493866-212493867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544521052	chr1:212493893-212493894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563082272	chr1:212493906-212493907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs375160494	chr1:212493920-212493921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529781081	chr1:212493922-212493923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541880168	chr1:212493936-212493937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559731824	chr1:212493938-212493939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376013989	chr1:212493942-212493943	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552055742	chr1:212493943-212493944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs192851651	chr1:212493956-212493957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531622310	chr1:212493962-212493963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs4622135	chr1:212494010-212494011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568221834	chr1:212494016-212494017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558749232	chr1:212494030-212494031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77295414	chr1:212494048-212494049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555061154	chr1:212494130-212494131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61828727	chr1:212494133-212494134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566877434	chr1:212494162-212494163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534232677	chr1:212494164-212494165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7514566	chr1:212494185-212494186	Weak transcription	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
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
Breast cancer	21364760	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
2	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:212466600-212503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:212467400-212526000	Weak transcription	A549	lung
5	chr1:212474200-212502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:212478200-212495800	Weak transcription	Fetal Thymus	thymus
7	chr1:212479200-212525400	Weak transcription	Aorta	Aorta
8	chr1:212484000-212503000	Weak transcription	Fetal Stomach	stomach
9	chr1:212484000-212506600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:212484200-212493400	Weak transcription	K562	blood
11	chr1:212484200-212507000	Weak transcription	HepG2	liver
12	chr1:212484400-212493400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:212484400-212496200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:212484400-212502800	Weak transcription	Thymus	Thymus
15	chr1:212484400-212506800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:212484600-212507200	Weak transcription	Right Ventricle	heart
17	chr1:212484800-212503000	Weak transcription	Fetal Intestine Small	intestine
18	chr1:212486000-212504000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:212486000-212507000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:212486200-212526000	Weak transcription	HUVEC	blood vessel
21	chr1:212486600-212502200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:212486600-212506800	Weak transcription	Ovary	ovary
23	chr1:212486800-212503600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:212487200-212506600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:212487800-212493400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:212487800-212502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:212488000-212502600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:212489000-212502400	Weak transcription	GM12878-XiMat	blood
29	chr1:212489400-212495600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:212489600-212495800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:212489600-212496200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:212489600-212500800	Weak transcription	Pancreas	Pancrea
33	chr1:212489600-212502000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:212489600-212506800	Weak transcription	NHDF-Ad	bronchial
35	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
36	chr1:212489800-212495800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:212489800-212500800	Weak transcription	Left Ventricle	heart
38	chr1:212489800-212503400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:212489800-212505400	Weak transcription	Fetal Lung	lung
40	chr1:212489800-212506800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:212489800-212506800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:212490000-212507800	Weak transcription	Brain Angular Gyrus	brain
43	chr1:212490200-212493400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:212490400-212495600	Weak transcription	Primary T cells from cord blood	blood
45	chr1:212490600-212494000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:212490600-212495800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:212491000-212495600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:212491000-212495800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:212491600-212502800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:212491800-212502600	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links