Variant report

Variant	esv2829860
Chromosome Location	chr6:53985339-54005043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000228231	chromatin interactions

Extended variants
information (count: 706 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1280946	chr6:53985339-53985340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560207560	chr6:53985378-53985379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76608375	chr6:53985399-53985400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532180041	chr6:53985402-53985403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188262261	chr6:53985418-53985419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569180329	chr6:53985445-53985446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111720073	chr6:53985456-53985457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545453019	chr6:53985463-53985464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191857114	chr6:53985509-53985510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567606426	chr6:53985629-53985630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184282112	chr6:53985684-53985685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552912663	chr6:53985694-53985695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566509513	chr6:53985714-53985715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540183822	chr6:53985740-53985741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560379327	chr6:53985767-53985768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112535803	chr6:53985811-53985812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558981819	chr6:53985812-53985813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149612308	chr6:53985815-53985816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530109335	chr6:53985840-53985841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77032873	chr6:53985943-53985944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555168992	chr6:53985969-53985970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114640990	chr6:53986002-53986003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540315586	chr6:53986004-53986005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560317239	chr6:53986096-53986097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570030626	chr6:53986141-53986142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532143199	chr6:53986168-53986169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545824776	chr6:53986201-53986202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34491532	chr6:53986256-53986257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143453914	chr6:53986286-53986287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146730657	chr6:53986356-53986357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548052923	chr6:53986389-53986390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370171631	chr6:53986391-53986392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200836848	chr6:53986392-53986393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546664177	chr6:53986424-53986425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566668859	chr6:53986438-53986439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371899212	chr6:53986447-53986448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2145754	chr6:53986503-53986504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144363072	chr6:53986533-53986534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569425427	chr6:53986677-53986678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148352030	chr6:53986701-53986702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528517703	chr6:53986737-53986738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554998210	chr6:53986751-53986752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367900358	chr6:53986770-53986771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs667854	chr6:53986877-53986878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189048106	chr6:53986907-53986908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553896758	chr6:53986917-53986918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs581120	chr6:53986928-53986929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73436341	chr6:53986941-53986942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374256949	chr6:53986978-53986979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs667378	chr6:53987004-53987005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53972800-53989400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:53976800-53989200	Weak transcription	Left Ventricle	heart
3	chr6:53977600-53992400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:53980000-53989400	Weak transcription	Psoas Muscle	Psoas
5	chr6:53981000-53986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:53983000-53990200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:53983200-53989200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:53983600-53985800	Weak transcription	Fetal Heart	heart
9	chr6:53984600-53986400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr6:53985400-53985600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:53985800-53986200	Enhancers	HUVEC	blood vessel
12	chr6:53985800-53986400	Enhancers	Fetal Heart	heart
13	chr6:53986200-54000600	Weak transcription	HUVEC	blood vessel
14	chr6:53986400-54000000	Weak transcription	Fetal Heart	heart
15	chr6:53987000-53989400	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:53987600-53989800	Weak transcription	Liver	Liver
17	chr6:53988000-53990200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:53988600-53989400	Weak transcription	Right Ventricle	heart
19	chr6:53988800-53989000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:53989000-53990200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:53989200-53989800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:53989200-53990400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:53989200-53990800	Strong transcription	Left Ventricle	heart
24	chr6:53989400-53989600	Enhancers	Psoas Muscle	Psoas
25	chr6:53989400-53989600	Enhancers	Right Ventricle	heart
26	chr6:53989400-53989800	Strong transcription	Fetal Muscle Leg	muscle
27	chr6:53989400-53990400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:53989600-53989800	Genic enhancers	Psoas Muscle	Psoas
29	chr6:53989600-54001600	Weak transcription	Right Ventricle	heart
30	chr6:53989800-53990600	Strong transcription	Liver	Liver
31	chr6:53989800-53996600	Weak transcription	Psoas Muscle	Psoas
32	chr6:53989800-54003800	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:53990000-53990800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:53990200-53990600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:53990200-53990800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:53990200-53990800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:53990200-53990800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:53990200-53990800	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:53990400-53990600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:53990400-53993400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:53990600-53992800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:53990600-53993400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:53990600-53998000	Weak transcription	Liver	Liver
44	chr6:53990800-53995000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:53990800-53995200	Weak transcription	Left Ventricle	heart
46	chr6:53992800-53993600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr6:53993400-53993800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:53993400-53994200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:53993600-53994200	Enhancers	NHEK	skin
50	chr6:53993600-53996000	Enhancers	Skeletal Muscle Female	skeletal muscle

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