Variant report

Variant	esv3416730
Chromosome Location	chr6:134351795-134354273
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:134345844..134348378-chr6:134349691..134351892,2	K562	blood:
2	chr6:134353923..134355591-chr6:134358925..134360738,2	K562	blood:
3	chr6:134335558..134337686-chr6:134351393..134353887,2	MCF-7	breast:
4	chr6:134351702..134354172-chr6:134372536..134375397,3	K562	blood:
5	chr6:134344567..134346471-chr6:134350446..134352448,2	MCF-7	breast:
6	chr6:134341566..134343358-chr6:134351242..134353788,2	K562	blood:
7	chr6:134351987..134354172-chr6:134373836..134375397,2	K562	blood:
8	chr6:134353246..134355174-chr6:134356694..134358251,2	K562	blood:
9	chr6:134276652..134279783-chr6:134349366..134352805,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146411	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147076258	chr6:134351811-134351812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552744513	chr6:134351848-134351849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566355513	chr6:134351853-134351854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114173390	chr6:134351856-134351857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560567639	chr6:134351870-134351871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564979727	chr6:134351876-134351877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112407014	chr6:134351883-134351884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116417062	chr6:134351891-134351892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544146734	chr6:134351892-134351893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368581591	chr6:134351922-134351923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571589000	chr6:134351926-134351927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189475271	chr6:134351940-134351941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142632435	chr6:134351943-134351944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539983667	chr6:134351954-134351955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527790715	chr6:134351959-134351960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560654366	chr6:134351981-134351982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532720929	chr6:134352029-134352030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181303325	chr6:134352030-134352031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563132136	chr6:134352037-134352038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183589692	chr6:134352073-134352074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143053238	chr6:134352079-134352080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56672329	chr6:134352081-134352082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78503247	chr6:134352224-134352225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549319272	chr6:134352277-134352278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141223395	chr6:134352280-134352281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188334353	chr6:134352317-134352318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538418578	chr6:134352358-134352359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75985545	chr6:134352361-134352362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569123879	chr6:134352389-134352390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35217191	chr6:134352406-134352407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537797896	chr6:134352485-134352486	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554529805	chr6:134352505-134352506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574384040	chr6:134352506-134352507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs28457637	chr6:134352536-134352537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34478769	chr6:134352564-134352565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs397787843	chr6:134352572-134352573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533800441	chr6:134352573-134352574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs115657552	chr6:134352580-134352581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34180332	chr6:134352685-134352686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77707109	chr6:134352689-134352690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563113287	chr6:134352744-134352745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73774197	chr6:134352745-134352746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2247185	chr6:134352747-134352748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562096738	chr6:134352752-134352753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs117989902	chr6:134352789-134352790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs180850424	chr6:134352801-134352802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370210865	chr6:134352856-134352857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76478450	chr6:134352859-134352860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533261004	chr6:134352870-134352871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551951341	chr6:134352922-134352923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134315400-134355800	Weak transcription	Right Atrium	heart
2	chr6:134318000-134356400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:134328600-134361600	Weak transcription	Esophagus	oesophagus
4	chr6:134336400-134353000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:134339200-134356000	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:134342000-134361600	Weak transcription	Gastric	stomach
7	chr6:134342200-134355600	Weak transcription	Fetal Heart	heart
8	chr6:134342800-134352000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:134343200-134355800	Weak transcription	Lung	lung
10	chr6:134346400-134368800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:134348000-134357600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:134348200-134354600	Weak transcription	Pancreas	Pancrea
13	chr6:134348200-134356800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:134348400-134356000	Weak transcription	Psoas Muscle	Psoas
15	chr6:134348600-134356400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:134348600-134356400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:134348600-134356800	Weak transcription	Fetal Intestine Small	intestine
18	chr6:134348600-134362400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:134348800-134351800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:134349000-134352400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:134349600-134352000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:134350000-134356000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:134350200-134369000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:134350400-134352000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:134350600-134352200	Enhancers	Fetal Lung	lung
26	chr6:134350600-134353400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:134350600-134356400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:134350600-134362200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:134350600-134370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:134350800-134351800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:134350800-134351800	Enhancers	HMEC	breast
32	chr6:134350800-134356000	Weak transcription	Aorta	Aorta
33	chr6:134350800-134356600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:134350800-134356800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:134351000-134353600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:134351200-134352400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:134351400-134351800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:134351600-134352600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:134351600-134352600	Weak transcription	A549	lung
40	chr6:134351600-134352600	Weak transcription	NH-A	brain
41	chr6:134351600-134352600	Weak transcription	NHEK	skin
42	chr6:134351600-134352600	Weak transcription	Osteobl	bone
43	chr6:134351600-134352800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:134351600-134353400	Enhancers	K562	blood
45	chr6:134351600-134355600	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:134351600-134355800	Weak transcription	Brain Anterior Caudate	brain
47	chr6:134351600-134355800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:134351600-134356000	Weak transcription	Brain Angular Gyrus	brain
49	chr6:134351600-134356000	Weak transcription	Brain Substantia Nigra	brain
50	chr6:134351600-134356200	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links