Variant report

Variant	nsv1015211
Chromosome Location	chr6:161836242-161860636
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161860070..161861572-chr6:161862140..161863792,2	MCF-7	breast:
2	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
3	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
4	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
5	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
6	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
7	chr3:161087670..161090609-chr6:161855286..161856788,2	MCF-7	breast:
8	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
9	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
10	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
11	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
12	chr6:161839408..161840069-chr6:161919484..161920171,3	K562	blood:
13	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:
14	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
15	chr6:161839144..161840001-chr6:161919199..161919993,2	MCF-7	breast:
16	chr5:153090609..153093589-chr6:161855798..161858427,3	MCF-7	breast:
17	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
18	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
19	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
20	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 1113 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530376521	chr6:161836251-161836252	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs555923984	chr6:161836253-161836254	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs73606944	chr6:161836265-161836266	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567048672	chr6:161836303-161836304	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs374970028	chr6:161836331-161836332	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs575759477	chr6:161836401-161836402	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs539271286	chr6:161836431-161836432	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs369421079	chr6:161836461-161836462	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs552381804	chr6:161836479-161836480	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs373274479	chr6:161836540-161836541	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs569381947	chr6:161836560-161836561	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs181703571	chr6:161836564-161836565	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs554911826	chr6:161836567-161836568	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs544700215	chr6:161836596-161836597	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs9365288	chr6:161836599-161836600	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs552828724	chr6:161836623-161836624	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs548348066	chr6:161836624-161836625	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs576228022	chr6:161836625-161836626	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs56123481	chr6:161836627-161836628	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs559459692	chr6:161836636-161836637	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs76950988	chr6:161836638-161836639	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs552874066	chr6:161836640-161836641	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs572685117	chr6:161836641-161836642	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs371202596	chr6:161836665-161836666	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs369996951	chr6:161836673-161836674	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs148647689	chr6:161836700-161836701	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs558365395	chr6:161836733-161836734	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs16892507	chr6:161836758-161836759	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs543980543	chr6:161836778-161836779	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs7762082	chr6:161836815-161836816	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs190837160	chr6:161836921-161836922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs529742856	chr6:161836936-161836937	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs527293197	chr6:161837006-161837007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs79654108	chr6:161837012-161837013	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs34452492	chr6:161837086-161837087	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs575541908	chr6:161837118-161837119	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs80135482	chr6:161837135-161837136	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs182360709	chr6:161837143-161837144	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs552693554	chr6:161837147-161837148	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs186654947	chr6:161837168-161837169	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs76812965	chr6:161837189-161837190	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs189776270	chr6:161837224-161837225	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs368662011	chr6:161837229-161837230	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs568089703	chr6:161837235-161837236	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs142136263	chr6:161837236-161837237	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs373026648	chr6:161837305-161837306	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs566475971	chr6:161837320-161837321	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs146379294	chr6:161837345-161837346	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs75770875	chr6:161837375-161837376	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs558678224	chr6:161837398-161837399	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD

Chromatin state (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161830400-161838800	Weak transcription	NHDF-Ad	bronchial
2	chr6:161833600-161840400	Enhancers	Fetal Muscle Leg	muscle
3	chr6:161834000-161836400	Enhancers	HSMMtube	muscle
4	chr6:161834000-161837200	Enhancers	HSMM	muscle
5	chr6:161834000-161840400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:161834200-161837000	Bivalent Enhancer	Fetal Stomach	stomach
7	chr6:161834200-161839000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:161834400-161836400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:161834400-161839400	Enhancers	Pancreas	Pancrea
10	chr6:161834600-161836400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:161834600-161837000	Enhancers	Fetal Lung	lung
12	chr6:161835000-161836400	Enhancers	Brain Germinal Matrix	brain
13	chr6:161835000-161837200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:161835000-161837400	Enhancers	Esophagus	oesophagus
15	chr6:161835000-161837600	Enhancers	Fetal Kidney	kidney
16	chr6:161835200-161836800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:161835400-161837400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:161835400-161838800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:161835600-161836800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:161835600-161836800	Bivalent Enhancer	K562	blood
21	chr6:161835600-161837400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:161835800-161836400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:161835800-161839200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:161836000-161836400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:161836000-161836800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:161836000-161837000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:161836000-161837000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:161836000-161837600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:161836000-161837800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:161836000-161838400	Weak transcription	Fetal Brain Female	brain
31	chr6:161836000-161839000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:161836200-161836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:161836200-161837000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:161836200-161837400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:161836200-161838000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:161836200-161838600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:161836200-161838600	Weak transcription	Fetal Brain Male	brain
38	chr6:161836200-161838800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:161836200-161838800	Weak transcription	Psoas Muscle	Psoas
40	chr6:161836200-161838800	Weak transcription	HMEC	breast
41	chr6:161836200-161839200	Weak transcription	Brain Angular Gyrus	brain
42	chr6:161836200-161839200	Weak transcription	Brain Anterior Caudate	brain
43	chr6:161836200-161839200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr6:161836200-161839200	Weak transcription	Brain Substantia Nigra	brain
45	chr6:161836400-161836800	Weak transcription	HSMMtube	muscle
46	chr6:161836400-161838400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:161836400-161838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:161836400-161838800	Weak transcription	Brain Germinal Matrix	brain
49	chr6:161836400-161838800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:161836600-161837000	Enhancers	Primary hematopoietic stem cells	blood

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