Variant report

Variant	nsv527191
Chromosome Location	chr6:37173793-37180523
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:61)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:37142590..37145563-chr6:37170274..37176000,5	K562	blood:
2	chr6:36984139..36992310-chr6:37174438..37180666,13	K562	blood:
3	chr6:36997142..36997695-chr6:37176051..37176673,2	MCF-7	breast:
4	chr6:37013870..37015884-chr6:37176844..37178399,2	K562	blood:
5	chr6:37138941..37142490-chr6:37173522..37176911,4	K562	blood:
6	chr6:37143067..37148225-chr6:37171800..37179920,10	K562	blood:
7	chr6:36986111..36987939-chr6:37176127..37178450,2	MCF-7	breast:
8	chr6:37139248..37140979-chr6:37178268..37180778,2	K562	blood:
9	chr6:37176912..37179882-chr6:37181319..37183621,3	K562	blood:
10	chr6:37136338..37142901-chr6:37174353..37180910,16	K562	blood:
11	chr6:37018979..37019899-chr6:37175550..37176433,4	K562	blood:
12	chr6:37018587..37019913-chr6:37177834..37178576,6	K562	blood:
13	chr6:36989137..36990101-chr6:37175465..37176865,5	MCF-7	breast:
14	chr6:36987477..36989707-chr6:37172018..37174829,3	K562	blood:
15	chr6:36985644..36987482-chr6:37177455..37178899,11	MCF-7	breast:
16	chr6:37145223..37146087-chr6:37175760..37176311,2	K562	blood:
17	chr6:36996711..36997700-chr6:37177886..37178877,18	K562	blood:
18	chr6:37001172..37003656-chr6:37177575..37179330,2	K562	blood:
19	chr6:37019030..37019973-chr6:37175557..37176474,5	MCF-7	breast:
20	chr6:36985713..36987315-chr6:37177177..37178923,41	K562	blood:
21	chr6:37179975..37181475-chr6:37194600..37196173,2	K562	blood:
22	chr6:37138215..37139821-chr6:37175496..37177561,2	MCF-7	breast:
23	chr6:36990365..36993008-chr6:37173056..37174910,2	MCF-7	breast:
24	chr6:37136875..37138408-chr6:37173630..37176178,2	K562	blood:
25	chr6:37149356..37151039-chr6:37177346..37179658,2	K562	blood:
26	chr6:37177179..37179979-chr6:37232016..37233735,2	K562	blood:
27	chr6:37149902..37152655-chr6:37173951..37175551,2	K562	blood:
28	chr6:36989160..36990097-chr6:37177684..37178889,6	MCF-7	breast:
29	chr6:36987509..36988444-chr6:37177937..37178601,3	K562	blood:
30	chr6:36986055..36987477-chr6:37177799..37178902,22	MCF-7	breast:
31	chr6:37018986..37019867-chr6:37177959..37178857,6	MCF-7	breast:
32	chr6:36985689..36987067-chr6:37174835..37176439,10	MCF-7	breast:
33	chr6:36997224..37001862-chr6:37173680..37176936,6	K562	blood:
34	chr6:36989194..36990306-chr6:37177960..37178938,5	MCF-7	breast:
35	chr6:36950922..36953739-chr6:37176914..37178749,2	MCF-7	breast:
36	chr6:37151215..37153686-chr6:37176476..37178386,2	K562	blood:
37	chr6:37015294..37018707-chr6:37173927..37177925,4	K562	blood:
38	chr6:37019209..37019948-chr6:37175488..37176263,3	MCF-7	breast:
39	chr6:37155352..37158318-chr6:37172850..37175746,2	K562	blood:
40	chr6:36989137..36990111-chr6:37175487..37176467,5	K562	blood:
41	chr6:36985701..36987115-chr6:37175477..37176997,13	K562	blood:
42	chr6:36995372..37000472-chr6:37174362..37180086,7	K562	blood:
43	chr6:36996603..36998184-chr6:37175452..37176492,5	K562	blood:
44	chr6:37022772..37024698-chr6:37171655..37174506,2	MCF-7	breast:
45	chr6:36985027..36989561-chr6:37176409..37180028,4	K562	blood:
46	chr6:37139726..37140636-chr6:37177279..37178166,2	K562	blood:
47	chr6:36989570..36992539-chr6:37178142..37179821,2	MCF-7	breast:
48	chr6:36733976..36734638-chr6:37177966..37178508,3	K562	blood:
49	chr6:36989172..36990107-chr6:37180296..37180820,2	K562	blood:
50	chr6:36986227..36987023-chr6:37179191..37179864,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TMEM217	hsa-miR-335-5p	chr6:37180098-37180121

Variant related genes	Relation type
ENSG00000252687	chromatin interactions
ENSG00000137193	chromatin interactions
ENSG00000146192	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7739790	chr6:37173793-37173794	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144061362	chr6:37173806-37173807	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs192430242	chr6:37173811-37173812	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1624598	chr6:37173868-37173869	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10629756	chr6:37173875-37173876	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs70977632	chr6:37173877-37173878	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs262948	chr6:37173889-37173890	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555881205	chr6:37173911-37173912	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374289468	chr6:37173926-37173927	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187052744	chr6:37173930-37173931	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547246475	chr6:37173948-37173949	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567039475	chr6:37173973-37173974	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs536109376	chr6:37174006-37174007	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs386700239	chr6:37174009-37174010	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs568005352	chr6:37174010-37174011	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs146596004	chr6:37174011-37174012	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs1625571	chr6:37174028-37174029	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141046536	chr6:37174036-37174037	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs541345282	chr6:37174045-37174046	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs386700240	chr6:37174048-37174049	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs262950	chr6:37174051-37174052	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552783519	chr6:37174094-37174095	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs572968892	chr6:37174144-37174145	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs542060228	chr6:37174145-37174146	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs561844302	chr6:37174166-37174167	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs575585051	chr6:37174199-37174200	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs9470538	chr6:37174230-37174231	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149019939	chr6:37174245-37174246	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs147030575	chr6:37174262-37174263	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs190103933	chr6:37174303-37174304	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs574813767	chr6:37174329-37174330	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs560704670	chr6:37174331-37174332	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs543447755	chr6:37174336-37174337	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs563625668	chr6:37174467-37174468	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs532659939	chr6:37174481-37174482	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs549615483	chr6:37174505-37174506	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs112842081	chr6:37174523-37174524	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs569492582	chr6:37174550-37174551	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs182707864	chr6:37174557-37174558	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs568379331	chr6:37174566-37174567	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs1757011	chr6:37174611-37174612	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187340666	chr6:37174617-37174618	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs1766683	chr6:37174639-37174640	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1680005	chr6:37174745-37174746	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
45	rs572951723	chr6:37174766-37174767	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs369208917	chr6:37174810-37174811	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs555630379	chr6:37174816-37174817	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs138330385	chr6:37174824-37174825	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs142396987	chr6:37174845-37174846	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs78403644	chr6:37174928-37174929	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37167200-37179200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:37168000-37173800	Enhancers	HepG2	liver
3	chr6:37169200-37174000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr6:37169400-37174200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:37169400-37174200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr6:37169600-37176200	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:37169800-37173800	Enhancers	Fetal Intestine Large	intestine
8	chr6:37170000-37178000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:37170800-37178000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:37171000-37175400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:37171000-37175600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:37171000-37177400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:37171200-37175200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:37171600-37175400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:37172000-37179000	Enhancers	Fetal Thymus	thymus
16	chr6:37172200-37173800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:37172400-37177800	Weak transcription	Fetal Heart	heart
18	chr6:37172400-37177800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:37172800-37174000	Flanking Active TSS	Dnd41	blood
20	chr6:37173000-37174200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:37173000-37175600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:37173000-37178400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:37173000-37179000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr6:37173200-37173800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:37173200-37173800	Flanking Active TSS	K562	blood
26	chr6:37173200-37174600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:37173200-37175000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:37173200-37175600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:37173200-37176400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr6:37173400-37173800	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:37173400-37173800	Enhancers	Primary T cells from cord blood	blood
32	chr6:37173400-37173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:37173400-37173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:37173400-37173800	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:37173400-37174000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:37173400-37175800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:37173600-37174000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:37173600-37174000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr6:37173600-37174800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:37173600-37175600	Weak transcription	Hela-S3	cervix
41	chr6:37173600-37178000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:37173600-37178000	Weak transcription	Fetal Intestine Small	intestine
43	chr6:37173600-37178200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:37173600-37178200	Weak transcription	A549	lung
45	chr6:37173800-37174000	Enhancers	Primary B cells from cord blood	blood
46	chr6:37173800-37174600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:37173800-37175400	Weak transcription	Primary T cells from cord blood	blood
48	chr6:37173800-37175400	Weak transcription	HepG2	liver
49	chr6:37173800-37175600	Weak transcription	GM12878-XiMat	blood
50	chr6:37173800-37175800	Enhancers	K562	blood

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