Variant report

Variant	esv19950
Chromosome Location	chr6:56942932-56946395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56938112..56940287-chr6:56942414..56944879,2	K562	blood:
2	chr6:56935225..56943628-chr6:56947006..56954759,13	K562	blood:
3	chr6:56938787..56941185-chr6:56942414..56944415,2	K562	blood:
4	chr6:56934993..56938147-chr6:56946387..56949781,3	K562	blood:
5	chr6:56946361..56949087-chr6:56953500..56956210,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112200	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553140911	chr6:56943079-56943080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567880235	chr6:56943093-56943094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566531048	chr6:56943142-56943143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543656967	chr6:56943161-56943162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556862341	chr6:56943240-56943241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184096168	chr6:56943255-56943256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563583135	chr6:56943277-56943278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140237695	chr6:56943283-56943284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145303262	chr6:56943320-56943321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12190434	chr6:56943388-56943389	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs137936364	chr6:56943479-56943480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548956889	chr6:56943504-56943505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149070604	chr6:56943584-56943585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115748913	chr6:56943589-56943590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143756636	chr6:56943593-56943594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533658396	chr6:56943636-56943637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371476966	chr6:56943722-56943723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113128143	chr6:56943748-56943749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570310288	chr6:56943790-56943791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528204696	chr6:56943794-56943795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188531645	chr6:56943903-56943904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567793180	chr6:56943924-56943925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535297635	chr6:56943932-56943933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556725438	chr6:56943958-56943959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568856568	chr6:56943995-56943996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148147941	chr6:56944013-56944014	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573606010	chr6:56944017-56944018	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141988821	chr6:56944026-56944027	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573122789	chr6:56944070-56944071	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540745324	chr6:56944095-56944096	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372864555	chr6:56944137-56944138	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147330139	chr6:56944170-56944171	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192940974	chr6:56944171-56944172	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574166786	chr6:56944193-56944194	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542751347	chr6:56944207-56944208	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367805180	chr6:56944256-56944257	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568808551	chr6:56944277-56944278	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559528295	chr6:56944279-56944280	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78456019	chr6:56944282-56944283	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77544622	chr6:56944308-56944309	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76766172	chr6:56944309-56944310	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578252140	chr6:56944353-56944354	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545342177	chr6:56944354-56944355	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564130253	chr6:56944428-56944429	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537454353	chr6:56944493-56944494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528103058	chr6:56944496-56944497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546557324	chr6:56944505-56944506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561484282	chr6:56944508-56944509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs185094461	chr6:56944521-56944522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs373429213	chr6:56944537-56944538	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
Hodgkin''s lymphoma	17606441	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56911800-56943000	Weak transcription	Esophagus	oesophagus
2	chr6:56914600-56954200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:56916800-56954400	Weak transcription	Thymus	Thymus
4	chr6:56918400-56954200	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:56925400-56954400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:56925600-56954200	Weak transcription	Hela-S3	cervix
7	chr6:56926400-56944600	Weak transcription	Pancreas	Pancrea
8	chr6:56926600-56954200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:56927000-56954800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:56927200-56954000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:56929200-56954200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:56929400-56954200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:56929800-56944800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:56930000-56943200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:56930000-56950000	Weak transcription	NHDF-Ad	bronchial
16	chr6:56930000-56954200	Weak transcription	Fetal Intestine Small	intestine
17	chr6:56930200-56944000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:56930200-56954000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:56930400-56944000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:56930400-56954200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:56930600-56946200	Weak transcription	HUVEC	blood vessel
22	chr6:56930600-56952800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:56931600-56954200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:56931800-56943800	Weak transcription	HepG2	liver
25	chr6:56932400-56947200	Weak transcription	Adipose Nuclei	Adipose
26	chr6:56932600-56954200	Weak transcription	HMEC	breast
27	chr6:56933200-56954200	Weak transcription	HSMM	muscle
28	chr6:56933800-56947000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:56934600-56947000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:56935200-56954200	Weak transcription	Placenta	Placenta
31	chr6:56935200-56954800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:56937400-56952200	Weak transcription	K562	blood
33	chr6:56939000-56944600	Weak transcription	Fetal Stomach	stomach
34	chr6:56939000-56954400	Weak transcription	Ovary	ovary
35	chr6:56939200-56944600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:56939200-56944600	Weak transcription	Left Ventricle	heart
37	chr6:56939600-56954200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:56939600-56954200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:56939600-56954400	Weak transcription	Aorta	Aorta
40	chr6:56942000-56945000	Weak transcription	Right Ventricle	heart
41	chr6:56942800-56943000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr6:56943200-56954200	Weak transcription	Right Atrium	heart
43	chr6:56943600-56944200	Weak transcription	Esophagus	oesophagus
44	chr6:56943800-56944200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:56943800-56944400	Enhancers	HepG2	liver
46	chr6:56944000-56945000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:56944200-56944600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:56944400-56944600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:56944400-56945400	Weak transcription	HepG2	liver
50	chr6:56944600-56944800	ZNF genes & repeats	Fetal Stomach	stomach

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