Variant report

Variant	esv1794477
Chromosome Location	chr6:119609322-119633534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119632711..119634346-chr6:119660199..119662314,2	K562	blood:
2	chr6:118972591..118974261-chr6:119609330..119611051,2	K562	blood:
3	chr6:119607943..119609884-chr6:119670447..119672161,2	K562	blood:
4	chr6:119255724..119257359-chr6:119631437..119633020,2	K562	blood:
5	chr6:119559906..119562568-chr6:119632947..119635233,2	K562	blood:
6	chr6:119457970..119460444-chr6:119612331..119614673,2	K562	blood:
7	chr6:119609031..119610643-chr6:119617216..119619068,2	MCF-7	breast:
8	chr6:119629640..119632678-chr6:119644965..119647810,3	K562	blood:
9	chr6:119631576..119635032-chr6:119667472..119671213,7	K562	blood:
10	chr6:119609972..119611654-chr6:119613652..119615753,2	K562	blood:
11	chr6:119215172..119217448-chr6:119632930..119634437,2	K562	blood:
12	chr6:119601823..119603610-chr6:119610338..119612030,2	K562	blood:
13	chr6:119621011..119622707-chr6:119625933..119627990,2	K562	blood:
14	chr6:119617703..119620328-chr6:119627300..119629945,2	K562	blood:
15	chr6:119450801..119453428-chr6:119630832..119632419,2	K562	blood:
16	chr6:119621011..119622707-chr6:119625933..119627990,2	K562	blood:
17	chr6:119578497..119580438-chr6:119630996..119632847,2	K562	blood:
18	chr6:119613769..119616317-chr6:119619294..119622639,3	K562	blood:
19	chr6:119606752..119608778-chr6:119610247..119612125,3	K562	blood:
20	chr6:119628759..119633610-chr6:119634034..119636665,6	MCF-7	breast:
21	chr6:119609733..119612979-chr6:119627928..119630973,3	K562	blood:
22	chr6:119608607..119610723-chr6:119621907..119624132,2	K562	blood:
23	chr6:119609733..119612979-chr6:119627928..119630973,3	K562	blood:
24	chr6:119632816..119634470-chr6:119655470..119658092,2	K562	blood:
25	chr6:119609972..119611654-chr6:119613652..119615753,2	K562	blood:
26	chr6:119630356..119635588-chr6:119947996..119951157,4	K562	blood:
27	chr6:119608607..119610723-chr6:119621907..119624132,2	K562	blood:
28	chr6:119613769..119617114-chr6:119618757..119622703,5	K562	blood:
29	chr6:119610170..119612156-chr6:119617318..119619032,2	K562	blood:
30	chr6:119609031..119610643-chr6:119617216..119619068,2	MCF-7	breast:
31	chr6:119590465..119593242-chr6:119626545..119629330,2	K562	blood:
32	chr6:119613769..119617114-chr6:119618757..119622703,5	K562	blood:
33	chr6:119606752..119608656-chr6:119610580..119612125,2	K562	blood:
34	chr6:119616681..119618587-chr6:119631653..119633211,2	K562	blood:
35	chr6:119617703..119620328-chr6:119627300..119629945,2	K562	blood:
36	chr6:119610170..119612156-chr6:119617318..119619032,2	K562	blood:
37	chr6:119214822..119217448-chr6:119632711..119634437,2	K562	blood:
38	chr6:119613769..119616317-chr6:119619294..119622639,3	K562	blood:
39	chr6:119616681..119618587-chr6:119631653..119633211,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253194	chromatin interactions
ENSG00000111877	chromatin interactions
ENSG00000111860	chromatin interactions
ENSG00000111875	chromatin interactions
ENSG00000216316	chromatin interactions
ENSG00000111885	chromatin interactions

Extended variants
information (count: 947 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:947 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2038769	chr6:119609322-119609323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567791980	chr6:119609371-119609372	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs78712990	chr6:119609400-119609401	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568787548	chr6:119609406-119609407	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs182976182	chr6:119609418-119609419	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558047897	chr6:119609464-119609465	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148158824	chr6:119609476-119609477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142016146	chr6:119609480-119609481	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553927518	chr6:119609514-119609515	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573791280	chr6:119609565-119609566	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543069492	chr6:119609623-119609624	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188809646	chr6:119609624-119609625	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147233793	chr6:119609652-119609653	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192819162	chr6:119609691-119609692	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370526204	chr6:119609701-119609702	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs139035609	chr6:119609715-119609716	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs143056997	chr6:119609734-119609735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs7770398	chr6:119609747-119609748	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567838638	chr6:119609748-119609749	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs543509575	chr6:119609774-119609775	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530234108	chr6:119609812-119609813	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549034548	chr6:119609858-119609859	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141709406	chr6:119609928-119609929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs397945380	chr6:119609934-119609935	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568987921	chr6:119609952-119609953	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7750901	chr6:119609980-119609981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185691803	chr6:119610014-119610015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs118046908	chr6:119610037-119610038	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112254288	chr6:119610040-119610041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7750941	chr6:119610061-119610062	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187645636	chr6:119610124-119610125	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191349383	chr6:119610147-119610148	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370616347	chr6:119610156-119610157	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117925034	chr6:119610190-119610191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556588844	chr6:119610197-119610198	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576114628	chr6:119610221-119610222	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs67094117	chr6:119610231-119610232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs398110596	chr6:119610232-119610233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544022130	chr6:119610233-119610234	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs398066206	chr6:119610243-119610244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532145367	chr6:119610245-119610246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545127997	chr6:119610264-119610265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564934622	chr6:119610266-119610267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147481746	chr6:119610313-119610314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541662699	chr6:119610358-119610359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369939489	chr6:119610361-119610362	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183751555	chr6:119610372-119610373	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77561752	chr6:119610387-119610388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530278182	chr6:119610406-119610407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188067721	chr6:119610410-119610411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119589200-119611000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:119590600-119621800	Weak transcription	Placenta	Placenta
3	chr6:119590800-119617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:119590800-119626600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:119591000-119624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:119592200-119622200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:119592400-119610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:119592400-119620800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:119592400-119633600	Weak transcription	Primary T cells from cord blood	blood
10	chr6:119592600-119622200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:119592600-119627200	Weak transcription	Dnd41	blood
12	chr6:119593000-119622200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:119593000-119624800	Weak transcription	Fetal Thymus	thymus
14	chr6:119593000-119626800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:119597200-119627400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:119597600-119610800	Weak transcription	Fetal Kidney	kidney
17	chr6:119599200-119619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:119599800-119611400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:119599800-119632600	Weak transcription	Spleen	Spleen
20	chr6:119600000-119629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:119600400-119624000	Weak transcription	Fetal Stomach	stomach
22	chr6:119601400-119611000	Weak transcription	Small Intestine	intestine
23	chr6:119602400-119629200	Weak transcription	NH-A	brain
24	chr6:119602600-119627400	Weak transcription	Gastric	stomach
25	chr6:119602600-119629000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:119602600-119635600	Weak transcription	Esophagus	oesophagus
27	chr6:119602800-119610800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:119602800-119617400	Weak transcription	Left Ventricle	heart
29	chr6:119603400-119616800	Weak transcription	Fetal Intestine Small	intestine
30	chr6:119603400-119626800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:119604400-119615200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:119604400-119626600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:119604800-119610600	Weak transcription	Fetal Lung	lung
34	chr6:119604800-119616800	Weak transcription	Aorta	Aorta
35	chr6:119605000-119613000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:119605200-119617400	Weak transcription	Pancreas	Pancrea
37	chr6:119605400-119610800	Weak transcription	Adipose Nuclei	Adipose
38	chr6:119605600-119615200	Strong transcription	K562	blood
39	chr6:119605600-119617400	Strong transcription	HepG2	liver
40	chr6:119605600-119622400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:119605600-119626600	Weak transcription	GM12878-XiMat	blood
42	chr6:119606200-119626800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:119607200-119610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:119607200-119616200	Weak transcription	Fetal Intestine Large	intestine
45	chr6:119607200-119626800	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:119607400-119610600	Weak transcription	NHDF-Ad	bronchial
47	chr6:119607400-119624000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:119607400-119626800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:119607600-119628600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:119607800-119609400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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