Variant report

Variant	esv2759424
Chromosome Location	chr6:45885642-45887421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3777542	chr6:45885642-45885643	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3777543	chr6:45885673-45885674	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs189529438	chr6:45885684-45885685	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11758298	chr6:45885698-45885699	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs76690575	chr6:45885731-45885732	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79737527	chr6:45885767-45885768	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148152190	chr6:45885771-45885772	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193199656	chr6:45885782-45885783	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573274742	chr6:45885794-45885795	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540643536	chr6:45885795-45885796	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575984985	chr6:45885798-45885799	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72871434	chr6:45885799-45885800	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185082722	chr6:45885814-45885815	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3777544	chr6:45885862-45885863	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs532246674	chr6:45885875-45885876	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531165329	chr6:45885973-45885974	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3777545	chr6:45885979-45885980	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567780486	chr6:45885984-45885985	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146100826	chr6:45885989-45885990	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565807859	chr6:45886008-45886009	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546685868	chr6:45886013-45886014	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534729378	chr6:45886023-45886024	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565919954	chr6:45886026-45886027	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539345796	chr6:45886035-45886036	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370711178	chr6:45886095-45886096	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558069908	chr6:45886134-45886135	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190769820	chr6:45886267-45886268	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111335092	chr6:45886310-45886311	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72871437	chr6:45886316-45886317	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573413023	chr6:45886318-45886319	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146303597	chr6:45886324-45886325	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559085716	chr6:45886331-45886332	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577608592	chr6:45886334-45886335	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545362516	chr6:45886341-45886342	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3777546	chr6:45886393-45886394	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs3777547	chr6:45886427-45886428	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35448663	chr6:45886430-45886431	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376559334	chr6:45886471-45886472	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561326059	chr6:45886501-45886502	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528600588	chr6:45886510-45886511	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568836022	chr6:45886511-45886512	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181809596	chr6:45886557-45886558	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139233288	chr6:45886568-45886569	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115116947	chr6:45886605-45886606	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76801812	chr6:45886613-45886614	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62400467	chr6:45886650-45886651	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536811672	chr6:45886681-45886682	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12665031	chr6:45886740-45886741	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs368657047	chr6:45886792-45886793	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567173137	chr6:45886796-45886797	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Acute lymphoblastic leukemia	20435627	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Systemic lupus erythematosus	17503323	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
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45866600-45898400	Weak transcription	Colonic Mucosa	Colon
2	chr6:45868800-45889600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:45879800-45889600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:45881200-45908000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:45882000-45889600	Weak transcription	Adipose Nuclei	Adipose
6	chr6:45882000-45889600	Weak transcription	Lung	lung
7	chr6:45882000-45889600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:45882200-45889600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:45882200-45890800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:45882200-45891200	Weak transcription	Placenta	Placenta
11	chr6:45882400-45898400	Weak transcription	Fetal Intestine Large	intestine
12	chr6:45882600-45886000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:45883800-45887200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:45884200-45886800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:45884400-45886800	Enhancers	Psoas Muscle	Psoas
16	chr6:45884400-45887200	Genic enhancers	Left Ventricle	heart
17	chr6:45884600-45885800	Enhancers	Right Atrium	heart
18	chr6:45884600-45886600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:45884600-45890400	Weak transcription	Fetal Kidney	kidney
20	chr6:45884800-45886200	Enhancers	Fetal Muscle Leg	muscle
21	chr6:45884800-45887200	Enhancers	Right Ventricle	heart
22	chr6:45884800-45889600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:45885200-45889400	Weak transcription	HSMMtube	muscle
24	chr6:45885200-45890400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:45885200-45891200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:45885400-45889400	Weak transcription	Fetal Heart	heart
27	chr6:45885800-45889600	Weak transcription	Right Atrium	heart
28	chr6:45886000-45887400	Strong transcription	Fetal Intestine Small	intestine
29	chr6:45886200-45886600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:45886200-45887000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:45886200-45887400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:45886400-45886800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:45886400-45887000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:45886400-45887000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:45886400-45887200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:45886600-45886800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:45886600-45887000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:45886600-45887200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:45886600-45888400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:45886800-45889600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:45886800-45892000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:45886800-45910600	Weak transcription	Psoas Muscle	Psoas
43	chr6:45887000-45888400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:45887000-45890400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:45887000-45892000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:45887200-45888000	Strong transcription	Left Ventricle	heart
47	chr6:45887200-45889000	Weak transcription	Right Ventricle	heart
48	chr6:45887200-45889400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:45887200-45889400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:45887400-45896600	Weak transcription	Fetal Intestine Small	intestine

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