Variant report

Variant	esv3355277
Chromosome Location	chr6:161421612-161422910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161411515..161414164-chr6:161420734..161423757,3	MCF-7	breast:
2	chr6:161421443..161424452-chr6:161554706..161556451,3	K562	blood:
3	chr6:161422584..161426203-chr6:161439783..161443132,3	K562	blood:
4	chr6:161421006..161425101-chr6:161625177..161629259,4	K562	blood:
5	chr6:161422502..161428879-chr6:161429746..161435781,7	K562	blood:
6	chr6:161421302..161424014-chr6:161424627..161426475,2	K562	blood:

Variant related genes	Relation type
ENSG00000272841	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183271809	chr6:161421649-161421650	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536514140	chr6:161421724-161421725	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552717154	chr6:161421732-161421733	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146109491	chr6:161421738-161421739	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577002614	chr6:161421751-161421752	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73022082	chr6:161421752-161421753	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558675415	chr6:161421756-161421757	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555799332	chr6:161421759-161421760	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73022084	chr6:161421762-161421763	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374639201	chr6:161421772-161421773	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556425894	chr6:161421774-161421775	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544480057	chr6:161421779-161421780	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555103104	chr6:161421827-161421828	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575045097	chr6:161421831-161421832	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540892215	chr6:161421833-161421834	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572039912	chr6:161421837-161421838	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564422081	chr6:161421841-161421842	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545942677	chr6:161421842-161421843	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562647968	chr6:161421843-161421844	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs531652729	chr6:161421849-161421850	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs34726207	chr6:161421851-161421852	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200556247	chr6:161421857-161421858	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs140131129	chr6:161421858-161421859	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188500099	chr6:161421870-161421871	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558019261	chr6:161421871-161421872	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs193083458	chr6:161421872-161421873	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568348379	chr6:161421873-161421874	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs115082825	chr6:161421878-161421879	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540002359	chr6:161421884-161421885	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536595152	chr6:161421886-161421887	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550570882	chr6:161421899-161421900	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566513796	chr6:161421900-161421901	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538634876	chr6:161421939-161421940	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369978191	chr6:161421943-161421944	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149735167	chr6:161421962-161421963	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs558537920	chr6:161421972-161421973	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201849756	chr6:161421977-161421978	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs552875664	chr6:161421993-161421994	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572695084	chr6:161422004-161422005	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12214511	chr6:161422060-161422061	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538485397	chr6:161422065-161422066	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200533465	chr6:161422069-161422070	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs62637768	chr6:161422075-161422076	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs62637769	chr6:161422079-161422080	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs191298187	chr6:161422080-161422081	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs2765375	chr6:161422175-161422176	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs9364584	chr6:161422190-161422191	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs9365241	chr6:161422191-161422192	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs537909393	chr6:161422192-161422193	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554884252	chr6:161422199-161422200	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161413800-161432000	Weak transcription	Aorta	Aorta
2	chr6:161413800-161433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:161414000-161422400	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:161414000-161430800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:161414000-161432000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:161414200-161422400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:161414200-161422400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:161414200-161422400	Weak transcription	A549	lung
9	chr6:161414200-161422600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:161414200-161422600	Weak transcription	Fetal Kidney	kidney
11	chr6:161414200-161422600	Weak transcription	Stomach Mucosa	stomach
12	chr6:161414200-161431600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:161414200-161431600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:161414200-161458200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:161414400-161422400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:161414400-161422400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:161414600-161422600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:161414600-161422800	Weak transcription	Fetal Heart	heart
20	chr6:161414600-161432800	Weak transcription	Fetal Stomach	stomach
21	chr6:161414600-161442600	Weak transcription	Primary B cells from cord blood	blood
22	chr6:161414600-161457400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:161414800-161422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:161414800-161422600	Weak transcription	Hela-S3	cervix
25	chr6:161415400-161422400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:161415600-161422600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:161415600-161427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:161415600-161450000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:161416600-161422600	Weak transcription	Fetal Intestine Large	intestine
30	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:161416800-161422600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:161416800-161436200	Weak transcription	Fetal Intestine Small	intestine
33	chr6:161417400-161422400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:161417400-161422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:161417400-161422400	Weak transcription	Adipose Nuclei	Adipose
36	chr6:161417400-161422400	Weak transcription	Brain Substantia Nigra	brain
37	chr6:161417400-161449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:161417600-161422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:161417600-161430200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:161417800-161422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:161417800-161422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:161417800-161422400	Weak transcription	Brain Germinal Matrix	brain
43	chr6:161417800-161422400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:161417800-161422600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr6:161417800-161422600	Weak transcription	Gastric	stomach
46	chr6:161417800-161422600	Weak transcription	HSMM	muscle
47	chr6:161417800-161433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:161418000-161422000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:161418000-161422400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:161418000-161422400	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links