Variant report

Variant	esv3430243
Chromosome Location	chr1:216983179-216985177
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	chr1:216983040-216983190	GM12872	blood:	n/a	n/a
2	CTCF	chr1:216983180-216983330	SAEC	small airway:	n/a	n/a
3	CTCF	chr1:216984920-216985070	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
ESRRG	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557199629	chr1:216983210-216983211	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185229437	chr1:216983215-216983216	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs150133191	chr1:216983217-216983218	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs553443424	chr1:216983225-216983226	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573247996	chr1:216983242-216983243	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs541267145	chr1:216983254-216983255	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1339338	chr1:216983312-216983313	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs578024410	chr1:216983356-216983357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543754484	chr1:216983367-216983368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138460593	chr1:216983394-216983395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2576238	chr1:216983409-216983410	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs569313655	chr1:216983435-216983436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538293920	chr1:216983463-216983464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370432400	chr1:216983488-216983489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1339337	chr1:216983489-216983490	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528168425	chr1:216983505-216983506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189649805	chr1:216983515-216983516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181966368	chr1:216983516-216983517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565798766	chr1:216983580-216983581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149260487	chr1:216983594-216983595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550867596	chr1:216983608-216983609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112733440	chr1:216983617-216983618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147362757	chr1:216983671-216983672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536691589	chr1:216983726-216983727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187257968	chr1:216983851-216983852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11117684	chr1:216983882-216983883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1339358	chr1:216983895-216983896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191637784	chr1:216983911-216983912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376982770	chr1:216984044-216984045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150596996	chr1:216984045-216984046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537911959	chr1:216984046-216984047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35354364	chr1:216984056-216984057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398053816	chr1:216984062-216984063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544636077	chr1:216984063-216984064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559058117	chr1:216984070-216984071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371203689	chr1:216984078-216984079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375786689	chr1:216984146-216984147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187980852	chr1:216984182-216984183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139449954	chr1:216984208-216984209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143342474	chr1:216984251-216984252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542652193	chr1:216984283-216984284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546367447	chr1:216984313-216984314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564671895	chr1:216984365-216984366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559060689	chr1:216984374-216984375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572766129	chr1:216984411-216984412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544728807	chr1:216984427-216984428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74509548	chr1:216984492-216984493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12723353	chr1:216984496-216984497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs147531594	chr1:216984520-216984521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190442690	chr1:216984522-216984523	Weak transcription	n/a	n/a	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
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	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
Basal cell lymphoma	17170743	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
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216979000-216986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:216979600-216983200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:216979800-216985000	Weak transcription	Fetal Heart	heart
4	chr1:216979800-216985200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:216979800-216988800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:216979800-216989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:216980000-216984800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:216980200-216986400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:216980200-216987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:216980400-216988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:216981200-216986000	Weak transcription	HSMMtube	muscle
12	chr1:216983000-216983200	Genic enhancers	Gastric	stomach
13	chr1:216983000-216983200	Enhancers	Right Atrium	heart
14	chr1:216983000-216983600	Enhancers	Psoas Muscle	Psoas
15	chr1:216983200-216983400	Enhancers	Fetal Lung	lung
16	chr1:216983200-216983400	Weak transcription	Left Ventricle	heart
17	chr1:216983200-216983600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:216983200-216988600	Weak transcription	Right Atrium	heart
19	chr1:216983200-216989200	Weak transcription	Gastric	stomach
20	chr1:216983400-216983600	Enhancers	Left Ventricle	heart
21	chr1:216983600-216986200	Weak transcription	Psoas Muscle	Psoas
22	chr1:216983600-216986400	Weak transcription	Fetal Lung	lung
23	chr1:216983600-216988600	Weak transcription	Left Ventricle	heart
24	chr1:216983600-216988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:216983800-216985000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:216984000-216985000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:216984800-216985000	Enhancers	Fetal Kidney	kidney
28	chr1:216984800-216985200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:216984800-216985200	Enhancers	Fetal Intestine Large	intestine
30	chr1:216985000-216985400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:216985000-216985400	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:216985000-216985400	Enhancers	Fetal Intestine Small	intestine
33	chr1:216985000-216985600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:216985000-216986400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:216985000-216987600	Weak transcription	Fetal Kidney	kidney
36	chr1:216985000-216988600	Enhancers	Fetal Heart	heart

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