Variant report

Variant	esv3356440
Chromosome Location	chr6:144091559-144093557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:144093280-144093430	BJ	skin:	n/a	n/a
2	CTCF	chr6:144093220-144093370	BJ	skin:	n/a	n/a
3	MYC	chr6:144092044-144092143	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:144093027-144093069	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144091837..144094429-chr6:144095791..144097571,2	K562	blood:
2	chr6:143831076..143832888-chr6:144092613..144094642,2	MCF-7	breast:

Variant related genes	Relation type
PHACTR2	TF binding region
ENSG00000001036	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143503766	chr6:144091575-144091576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557931815	chr6:144091576-144091577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573097285	chr6:144091642-144091643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200025564	chr6:144091686-144091687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56781620	chr6:144091692-144091693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537332640	chr6:144091787-144091788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539978209	chr6:144091832-144091833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561429044	chr6:144091841-144091842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147999290	chr6:144091866-144091867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191675259	chr6:144091901-144091902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558535454	chr6:144091912-144091913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562466956	chr6:144091926-144091927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557328707	chr6:144091979-144091980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12198422	chr6:144092028-144092029	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs72471881	chr6:144092063-144092064	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs551701391	chr6:144092110-144092111	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs367730521	chr6:144092196-144092197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560431533	chr6:144092240-144092241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199629350	chr6:144092269-144092270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573450827	chr6:144092270-144092271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527468982	chr6:144092277-144092278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573641260	chr6:144092279-144092280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542219817	chr6:144092281-144092282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35688562	chr6:144092294-144092295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58365673	chr6:144092295-144092296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9376785	chr6:144092297-144092298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572966147	chr6:144092307-144092308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541606041	chr6:144092309-144092310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9403530	chr6:144092311-144092312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9390133	chr6:144092313-144092314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111431171	chr6:144092314-144092315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372104953	chr6:144092325-144092326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61587724	chr6:144092327-144092328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374861199	chr6:144092331-144092332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9390134	chr6:144092333-144092334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181663938	chr6:144092346-144092347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185449382	chr6:144092347-144092348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190206376	chr6:144092352-144092353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374833545	chr6:144092457-144092458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141534531	chr6:144092513-144092514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540940725	chr6:144092538-144092539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375284850	chr6:144092542-144092543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10080348	chr6:144092595-144092596	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11752220	chr6:144092596-144092597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569184678	chr6:144092614-144092615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575781935	chr6:144092666-144092667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563814085	chr6:144092667-144092668	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369681538	chr6:144092675-144092676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573132973	chr6:144092676-144092677	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144137419	chr6:144092724-144092725	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144067800-144095400	Weak transcription	NHLF	lung
2	chr6:144067800-144122000	Weak transcription	Colonic Mucosa	Colon
3	chr6:144069400-144097800	Weak transcription	Gastric	stomach
4	chr6:144069600-144093200	Weak transcription	Stomach Mucosa	stomach
5	chr6:144070200-144122000	Weak transcription	Small Intestine	intestine
6	chr6:144070800-144106200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:144072600-144095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:144072600-144106400	Weak transcription	HMEC	breast
9	chr6:144074200-144113200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:144077200-144093600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:144077200-144095400	Weak transcription	Primary B cells from cord blood	blood
12	chr6:144077400-144095000	Weak transcription	NHEK	skin
13	chr6:144077800-144122000	Weak transcription	Fetal Brain Male	brain
14	chr6:144079000-144092800	Weak transcription	Fetal Kidney	kidney
15	chr6:144079000-144099600	Weak transcription	K562	blood
16	chr6:144079200-144093000	Weak transcription	HSMM	muscle
17	chr6:144079200-144095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:144080600-144095000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:144080600-144101200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:144080600-144122000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:144081200-144096400	Weak transcription	Brain Angular Gyrus	brain
22	chr6:144081800-144095200	Weak transcription	Psoas Muscle	Psoas
23	chr6:144081800-144097600	Weak transcription	Esophagus	oesophagus
24	chr6:144083600-144128600	Weak transcription	Hela-S3	cervix
25	chr6:144083800-144098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:144084600-144091600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:144084800-144092000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:144085000-144113800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:144085200-144113800	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:144085600-144091800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr6:144086200-144099000	Weak transcription	Thymus	Thymus
32	chr6:144086200-144105400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:144086400-144091600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:144086400-144091800	Strong transcription	Fetal Intestine Large	intestine
35	chr6:144086600-144091600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:144086600-144106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:144087000-144093000	Weak transcription	HUVEC	blood vessel
38	chr6:144087000-144094600	Weak transcription	HepG2	liver
39	chr6:144087000-144095000	Weak transcription	Aorta	Aorta
40	chr6:144087000-144106600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:144087000-144122000	Weak transcription	Pancreas	Pancrea
42	chr6:144087200-144093400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:144087200-144093800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:144087200-144095000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr6:144087200-144097800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:144087200-144106000	Weak transcription	Spleen	Spleen
47	chr6:144087400-144093200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr6:144087600-144096200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:144087800-144092800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:144087800-144093000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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