Variant report

Variant	nsv830854
Chromosome Location	chr6:161739926-161927515
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:113)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr16:33964976..33965587-chr6:161803175..161803675,2	MCF-7	breast:
2	chr6:161573838..161574648-chr6:161791007..161792492,6	MCF-7	breast:
3	chr6:161746731..161748877-chr6:161750679..161754037,3	K562	blood:
4	chr6:161815002..161815512-chr6:161919264..161919910,2	K562	blood:
5	chr6:161554722..161557722-chr6:161792909..161795003,3	K562	blood:
6	chr6:161917184..161919756-chr6:161920329..161923023,2	K562	blood:
7	chr6:161574028..161575026-chr6:161794391..161795585,3	MCF-7	breast:
8	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
9	chr6:161520839..161521632-chr6:161791602..161792128,2	MCF-7	breast:
10	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
11	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
12	chr6:161774090..161774640-chr6:161794629..161795193,2	K562	blood:
13	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
14	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
15	chr6:161566087..161569641-chr6:161785856..161789665,3	K562	blood:
16	chr6:161793225..161794761-chr6:161807583..161809833,2	K562	blood:
17	chr6:161774110..161774649-chr6:161791891..161792645,2	MCF-7	breast:
18	chr6:161752310..161754062-chr6:161760945..161763469,2	K562	blood:
19	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
20	chr6:161561088..161561843-chr6:161794669..161795618,3	K562	blood:
21	chr6:161793225..161794761-chr6:161807583..161809833,2	K562	blood:
22	chr6:161874908..161877099-chr6:161907040..161908685,2	K562	blood:
23	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
24	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
25	chr6:161170784..161171753-chr6:161794646..161795782,4	MCF-7	breast:
26	chr6:161839408..161840069-chr6:161919484..161920171,3	K562	blood:
27	chr6:161804155..161807425-chr6:161808233..161811077,5	K562	blood:
28	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
29	chr5:153090609..153093589-chr6:161855798..161858427,3	MCF-7	breast:
30	chr6:161618614..161620320-chr6:161789402..161791597,2	K562	blood:
31	chr6:161754902..161757201-chr6:161760270..161762271,2	K562	blood:
32	chr6:161522442..161523249-chr6:161791588..161792354,3	K562	blood:
33	chr6:161860070..161861572-chr6:161862140..161863792,2	MCF-7	breast:
34	chr6:161826891..161829319-chr6:161893488..161895593,2	K562	blood:
35	chr6:161774110..161774649-chr6:161791891..161792645,2	MCF-7	breast:
36	chr6:161826891..161829319-chr6:161893488..161895593,2	K562	blood:
37	chr6:161815002..161815512-chr6:161919264..161919910,2	K562	blood:
38	chr6:161804155..161807425-chr6:161808233..161811077,5	K562	blood:
39	chr6:161772837..161774713-chr6:161777546..161779588,2	K562	blood:
40	chr6:161814672..161815385-chr6:161919205..161920148,2	MCF-7	breast:
41	chr6:161772837..161774713-chr6:161777546..161779588,2	K562	blood:
42	chr6:161170865..161172640-chr6:161793998..161795799,2	MCF-7	breast:
43	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
44	chr6:161767495..161769144-chr6:161772225..161774509,3	K562	blood:
45	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
46	chr6:161520982..161521822-chr6:161791879..161792471,2	MCF-7	breast:
47	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
48	chr6:161839144..161840001-chr6:161919199..161919993,2	MCF-7	breast:
49	chr6:161909061..161911218-chr6:161914313..161915879,2	K562	blood:
50	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000026652	chromatin interactions

Extended variants
information (count: 7799 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:7799 , 50 per page) page: 1 2 3 4 5 6 7 ... 156

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189861158	chr6:161739960-161739961	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576749468	chr6:161739962-161739963	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563700159	chr6:161739975-161739976	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78534075	chr6:161740021-161740022	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549159397	chr6:161740029-161740030	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559162599	chr6:161740032-161740033	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs180767995	chr6:161740035-161740036	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76339360	chr6:161740073-161740074	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541589218	chr6:161740132-161740133	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570736745	chr6:161740187-161740188	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539778229	chr6:161740241-161740242	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561803966	chr6:161740288-161740289	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556435696	chr6:161740340-161740341	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569723492	chr6:161740351-161740352	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535647719	chr6:161740357-161740358	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576617485	chr6:161740359-161740360	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12664801	chr6:161740400-161740401	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540603769	chr6:161740428-161740429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557367202	chr6:161740429-161740430	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12190931	chr6:161740484-161740485	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139856168	chr6:161740499-161740500	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535771812	chr6:161740524-161740525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564014355	chr6:161740545-161740546	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73598824	chr6:161740629-161740630	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543244033	chr6:161740662-161740663	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115378217	chr6:161740675-161740676	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143309608	chr6:161740704-161740705	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570414288	chr6:161740821-161740822	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551782067	chr6:161740822-161740823	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532866810	chr6:161740874-161740875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565244200	chr6:161740890-161740891	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557252121	chr6:161740946-161740947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530956092	chr6:161740955-161740956	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111834543	chr6:161740998-161740999	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569973680	chr6:161741008-161741009	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559346401	chr6:161741059-161741060	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367738717	chr6:161741061-161741062	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191147924	chr6:161741072-161741073	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535288898	chr6:161741163-161741164	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549190453	chr6:161741214-161741215	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565423874	chr6:161741224-161741225	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146215209	chr6:161741228-161741229	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557455402	chr6:161741272-161741273	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74652809	chr6:161741362-161741363	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77359647	chr6:161741397-161741398	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116709972	chr6:161741402-161741403	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542830496	chr6:161741416-161741417	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9458202	chr6:161741442-161741443	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183717773	chr6:161741449-161741450	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545490689	chr6:161741467-161741468	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Parkinson disease	0	CNVD

Chromatin state (count:1952 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161737400-161740400	Weak transcription	K562	blood
2	chr6:161738600-161740000	Enhancers	Brain Substantia Nigra	brain
3	chr6:161738800-161740400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:161739000-161740200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:161739000-161740600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:161739000-161740800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:161739000-161740800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:161739200-161740600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:161739200-161740600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:161739200-161740600	Enhancers	Brain Germinal Matrix	brain
11	chr6:161739200-161741400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:161739400-161740000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr6:161739400-161740400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:161739400-161740400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:161739600-161740000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:161739600-161740000	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr6:161739600-161740400	Active TSS	Brain Cingulate Gyrus	brain
18	chr6:161739800-161740000	Active TSS	Brain Anterior Caudate	brain
19	chr6:161740000-161740200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr6:161740000-161740400	Active TSS	Brain Hippocampus Middle	brain
21	chr6:161740000-161740400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:161740000-161740400	Active TSS	Brain Substantia Nigra	brain
23	chr6:161740000-161740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:161740200-161740400	Active TSS	Brain Anterior Caudate	brain
25	chr6:161740400-161740800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:161740400-161741000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:161740400-161741000	Weak transcription	Brain Substantia Nigra	brain
28	chr6:161740400-161741400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:161740400-161741400	Enhancers	K562	blood
30	chr6:161740400-161741600	Enhancers	Brain Hippocampus Middle	brain
31	chr6:161741000-161741400	Enhancers	Brain Substantia Nigra	brain
32	chr6:161741200-161741400	Enhancers	Brain Anterior Caudate	brain
33	chr6:161741200-161741400	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:161746000-161746400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:161746000-161746800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:161748800-161749000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:161749000-161751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:161749200-161762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:161751400-161752400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:161751600-161753200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:161752000-161753200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:161752000-161753400	Enhancers	NHEK	skin
43	chr6:161752200-161752800	Enhancers	Liver	Liver
44	chr6:161752400-161752800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:161755200-161756000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:161755200-161756200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr6:161762400-161763000	Enhancers	Fetal Heart	heart
48	chr6:161762800-161763600	Enhancers	Fetal Intestine Large	intestine
49	chr6:161762800-161763600	Enhancers	Placenta	Placenta
50	chr6:161762800-161763600	Enhancers	Right Atrium	heart

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