Variant report

Variant	esv3448039
Chromosome Location	chr1:212447575-212450239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212447955..212449600-chr1:212455738..212457416,2	MCF-7	breast:
2	chr1:212445933..212447648-chr1:212451138..212453935,2	K562	blood:
3	chr1:212449889..212451870-chr1:212452202..212454178,2	K562	blood:
4	chr1:212449688..212453511-chr1:212455911..212459812,5	MCF-7	breast:
5	chr1:212446148..212447711-chr1:212451138..212453205,2	K562	blood:

Variant related genes	Relation type
ENSG00000066027	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11119898	chr1:212447578-212447579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538495112	chr1:212447613-212447614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs351419	chr1:212447665-212447666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs36021360	chr1:212447714-212447715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397863757	chr1:212447729-212447730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200843451	chr1:212447730-212447731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189679676	chr1:212447763-212447764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80133061	chr1:212447807-212447808	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs553883112	chr1:212447808-212447809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114938209	chr1:212447819-212447820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545777560	chr1:212447833-212447834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181724909	chr1:212447866-212447867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575989077	chr1:212447874-212447875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111271588	chr1:212447922-212447923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115778598	chr1:212447964-212447965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546391293	chr1:212447967-212447968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61828692	chr1:212447979-212447980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61503742	chr1:212448034-212448035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112971331	chr1:212448036-212448037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199870133	chr1:212448037-212448038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12033204	chr1:212448126-212448127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12033205	chr1:212448129-212448130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540854573	chr1:212448133-212448134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190947351	chr1:212448148-212448149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527822599	chr1:212448183-212448184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552539410	chr1:212448203-212448204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181986757	chr1:212448279-212448280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555886889	chr1:212448327-212448328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531755342	chr1:212448385-212448386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575422832	chr1:212448387-212448388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550468205	chr1:212448402-212448403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568801070	chr1:212448410-212448411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530174601	chr1:212448435-212448436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536043687	chr1:212448451-212448452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186167064	chr1:212448485-212448486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548743537	chr1:212448502-212448503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34011985	chr1:212448595-212448596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539112560	chr1:212448633-212448634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189896638	chr1:212448655-212448656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557841645	chr1:212448672-212448673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558007388	chr1:212448696-212448697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7513727	chr1:212448714-212448715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543034113	chr1:212448754-212448755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11119899	chr1:212448814-212448815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs116163972	chr1:212448819-212448820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540817791	chr1:212448829-212448830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182173133	chr1:212448927-212448928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188019553	chr1:212448957-212448958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199625745	chr1:212448988-212448989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545943543	chr1:212448990-212448991	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212445800-212448400	Weak transcription	Pancreas	Pancrea
2	chr1:212446000-212457000	Weak transcription	Stomach Mucosa	stomach
3	chr1:212446000-212457600	Weak transcription	Fetal Brain Female	brain
4	chr1:212446200-212454000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:212446400-212457200	Weak transcription	Fetal Heart	heart
6	chr1:212448400-212448600	Enhancers	HepG2	liver
7	chr1:212448400-212448800	Enhancers	Pancreas	Pancrea

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