Variant report

Variant	esv2496367
Chromosome Location	chr1:216294054-216295404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12755871	chr1:216294107-216294108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559566944	chr1:216294185-216294186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573411206	chr1:216294186-216294187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545162090	chr1:216294260-216294261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565327962	chr1:216294269-216294270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61826892	chr1:216294287-216294288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143709918	chr1:216294297-216294298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375544650	chr1:216294300-216294301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530819974	chr1:216294355-216294356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182034315	chr1:216294419-216294420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561266602	chr1:216294427-216294428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564001117	chr1:216294491-216294492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530307846	chr1:216294499-216294500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79201514	chr1:216294555-216294556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs68177753	chr1:216294567-216294568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199974320	chr1:216294568-216294569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111524804	chr1:216294569-216294570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111493677	chr1:216294571-216294572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566712710	chr1:216294592-216294593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534455484	chr1:216294607-216294608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551188201	chr1:216294702-216294703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559821410	chr1:216294745-216294746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200228982	chr1:216294752-216294753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201357745	chr1:216294753-216294754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397773578	chr1:216294761-216294762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370516259	chr1:216294783-216294784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185830892	chr1:216294792-216294793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376708585	chr1:216294804-216294805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566273520	chr1:216294817-216294818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190341973	chr1:216294853-216294854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs388485	chr1:216294879-216294880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181567952	chr1:216294942-216294943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545142048	chr1:216294947-216294948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558798768	chr1:216295107-216295108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575665023	chr1:216295128-216295129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544306056	chr1:216295179-216295180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10864233	chr1:216295188-216295189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568197190	chr1:216295203-216295204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530365112	chr1:216295209-216295210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186415076	chr1:216295273-216295274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560365459	chr1:216295282-216295283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532603698	chr1:216295297-216295298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552705977	chr1:216295301-216295302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571279507	chr1:216295304-216295305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375112693	chr1:216295316-216295317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143486585	chr1:216295375-216295376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550631882	chr1:216295376-216295377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200000091	chr1:216295392-216295393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147993801	chr1:216295397-216295398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536597285	chr1:216295401-216295402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216290600-216295200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:216290600-216295200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:216291000-216300200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:216295200-216295800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:216295200-216296000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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