Variant report

Variant	esv3338257
Chromosome Location	chr6:49063893-49065641
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	chr6:49056050..49058836-chr6:49063440..49065023,2	K562	blood:
2	chr6:49055092..49057550-chr6:49062999..49064940,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78257369	chr6:49063896-49063897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571322000	chr6:49063911-49063912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538851341	chr6:49063925-49063926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556737159	chr6:49063936-49063937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180765213	chr6:49064001-49064002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142647552	chr6:49064025-49064026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569590520	chr6:49064059-49064060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112294046	chr6:49064060-49064061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541727515	chr6:49064064-49064065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553643464	chr6:49064090-49064091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576957368	chr6:49064135-49064136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376469667	chr6:49064146-49064147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578088418	chr6:49064173-49064174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34348627	chr6:49064198-49064199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537696216	chr6:49064233-49064234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545587258	chr6:49064244-49064245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563590625	chr6:49064288-49064289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375471910	chr6:49064364-49064365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556376205	chr6:49064393-49064394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184973242	chr6:49064414-49064415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190846472	chr6:49064419-49064420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182231150	chr6:49064424-49064425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530909513	chr6:49064461-49064462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13207101	chr6:49064463-49064464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13207218	chr6:49064531-49064532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373240454	chr6:49064552-49064553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12523930	chr6:49064553-49064554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187197858	chr6:49064562-49064563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9369858	chr6:49064565-49064566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201458549	chr6:49064585-49064586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528484407	chr6:49064592-49064593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541813058	chr6:49064611-49064612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200055042	chr6:49064620-49064621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546552628	chr6:49064623-49064624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201324825	chr6:49064651-49064652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571525107	chr6:49064694-49064695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12523962	chr6:49064733-49064734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550739496	chr6:49064756-49064757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183186407	chr6:49064766-49064767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536329677	chr6:49064769-49064770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554737446	chr6:49064803-49064804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545901320	chr6:49064850-49064851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566440367	chr6:49064983-49064984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187094210	chr6:49065007-49065008	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs553344302	chr6:49065010-49065011	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs72866872	chr6:49065011-49065012	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190346788	chr6:49065052-49065053	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375057804	chr6:49065057-49065058	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182745530	chr6:49065118-49065119	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150598940	chr6:49065132-49065133	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49040400-49089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:49065000-49065200	Bivalent/Poised TSS	Liver	Liver
3	chr6:49065000-49065600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:49065000-49065800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:49065000-49065800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr6:49065000-49065800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr6:49065200-49065800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr6:49065400-49065800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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