Variant report

Variant	esv1851754
Chromosome Location	chr6:53989526-54050219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:53990110..53992835-chr6:54232926..54235323,2	K562	blood:
2	chr6:53992281..53994885-chr6:54000066..54003038,2	MCF-7	breast:
3	chr6:53992281..53994885-chr6:54000066..54003038,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228231	chromatin interactions

Extended variants
information (count: 2183 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2183 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4712056	chr6:53989526-53989527	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534280023	chr6:53989530-53989531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557472382	chr6:53989551-53989552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145946168	chr6:53989552-53989553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139795028	chr6:53989567-53989568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369010969	chr6:53989578-53989579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34522481	chr6:53989590-53989591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201147428	chr6:53989640-53989641	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558727168	chr6:53989645-53989646	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192130527	chr6:53989690-53989691	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182828120	chr6:53989700-53989701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs41273898	chr6:53989705-53989706	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs367934632	chr6:53989715-53989716	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572578224	chr6:53989716-53989717	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186783559	chr6:53989727-53989728	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138875104	chr6:53989729-53989730	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541495861	chr6:53989766-53989767	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs41273900	chr6:53989808-53989809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78343188	chr6:53989819-53989820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543738304	chr6:53989830-53989831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564059346	chr6:53989831-53989832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529436555	chr6:53989871-53989872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191593463	chr6:53989884-53989885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558977310	chr6:53989956-53989957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528195746	chr6:53990007-53990008	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551321379	chr6:53990008-53990009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs677434	chr6:53990039-53990040	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537078120	chr6:53990052-53990053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375302772	chr6:53990064-53990065	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550598210	chr6:53990076-53990077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567603959	chr6:53990113-53990114	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574656755	chr6:53990154-53990155	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553205855	chr6:53990167-53990168	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543286696	chr6:53990168-53990169	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116832771	chr6:53990196-53990197	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563590086	chr6:53990288-53990289	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs3903931	chr6:53990311-53990312	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs79677679	chr6:53990320-53990321	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138044682	chr6:53990347-53990348	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374660633	chr6:53990361-53990362	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543842781	chr6:53990423-53990424	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367713547	chr6:53990463-53990464	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74951960	chr6:53990464-53990465	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs816364	chr6:53990465-53990466	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558885175	chr6:53990491-53990492	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114772331	chr6:53990524-53990525	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559539109	chr6:53990525-53990526	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183880113	chr6:53990573-53990574	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551167000	chr6:53990638-53990639	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565038194	chr6:53990647-53990648	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	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
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53977600-53992400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:53983000-53990200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:53986200-54000600	Weak transcription	HUVEC	blood vessel
4	chr6:53986400-54000000	Weak transcription	Fetal Heart	heart
5	chr6:53987600-53989800	Weak transcription	Liver	Liver
6	chr6:53988000-53990200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:53989000-53990200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:53989200-53989800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:53989200-53990400	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:53989200-53990800	Strong transcription	Left Ventricle	heart
11	chr6:53989400-53989600	Enhancers	Psoas Muscle	Psoas
12	chr6:53989400-53989600	Enhancers	Right Ventricle	heart
13	chr6:53989400-53989800	Strong transcription	Fetal Muscle Leg	muscle
14	chr6:53989400-53990400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:53989600-53989800	Genic enhancers	Psoas Muscle	Psoas
16	chr6:53989600-54001600	Weak transcription	Right Ventricle	heart
17	chr6:53989800-53990600	Strong transcription	Liver	Liver
18	chr6:53989800-53996600	Weak transcription	Psoas Muscle	Psoas
19	chr6:53989800-54003800	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:53990000-53990800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:53990200-53990600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:53990200-53990800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:53990200-53990800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:53990200-53990800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:53990200-53990800	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:53990400-53990600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:53990400-53993400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:53990600-53992800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:53990600-53993400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:53990600-53998000	Weak transcription	Liver	Liver
31	chr6:53990800-53995000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:53990800-53995200	Weak transcription	Left Ventricle	heart
33	chr6:53992800-53993600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:53993400-53993800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:53993400-53994200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:53993600-53994200	Enhancers	NHEK	skin
37	chr6:53993600-53996000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:53993800-53994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:53993800-53996600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:53994400-53995200	Enhancers	Right Atrium	heart
41	chr6:53995000-53995400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:53995200-53995600	Enhancers	Left Ventricle	heart
43	chr6:53995200-53997600	Weak transcription	Right Atrium	heart
44	chr6:53995400-53997600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:53995600-53996600	Weak transcription	Left Ventricle	heart
46	chr6:53996000-53996400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:53996200-53996600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:53996400-53999000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:53996600-53996800	Enhancers	Left Ventricle	heart
50	chr6:53996600-53997000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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