Variant report

Variant	nsv521807
Chromosome Location	chr6:37295630-37305622
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37268575..37270100-chr6:37303447..37306274,2	K562	blood:
2	chr6:37300785..37302603-chr6:37307878..37309457,2	K562	blood:
3	chr6:37295574..37298465-chr6:37299510..37301716,2	MCF-7	breast:
4	chr6:37296385..37298657-chr6:37302566..37305470,2	MCF-7	breast:
5	chr6:37295574..37298465-chr6:37299510..37301716,2	MCF-7	breast:
6	chr6:37296385..37298657-chr6:37302566..37305470,2	MCF-7	breast:
7	chr6:37296478..37299221-chr6:37300461..37302140,2	K562	blood:
8	chr6:37293681..37294200-chr6:37301446..37302191,2	K562	blood:
9	chr6:37304825..37307374-chr6:37320661..37323463,2	K562	blood:
10	chr6:37296478..37299221-chr6:37300461..37302140,2	K562	blood:
11	chr6:37305344..37307361-chr6:37323441..37325135,2	K562	blood:
12	chr6:37299695..37302500-chr6:37310796..37313153,2	K562	blood:
13	chr6:37302579..37305468-chr6:37307016..37308948,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM217-1	chr6:37301809-37302181	XLOC_005703

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	TBC1D22B	hsa-miR-215-5p	chr6:37299854-37299877
2	TBC1D22B	hsa-miR-122-5p	chr6:37299746-37299752
3	TBC1D22B	hsa-miR-192-5p	chr6:37299854-37299877

Variant related genes	Relation type
ENSG00000112130	chromatin interactions

Extended variants
information (count: 384 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs195403	chr6:37295630-37295631	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75281781	chr6:37295696-37295697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76048389	chr6:37295697-37295698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386700243	chr6:37295816-37295817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs450134	chr6:37295818-37295819	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530632755	chr6:37295830-37295831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371354314	chr6:37295861-37295862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192290714	chr6:37295862-37295863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369890342	chr6:37295864-37295865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372786300	chr6:37295865-37295866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376313249	chr6:37295869-37295870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369664546	chr6:37295870-37295871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546948447	chr6:37295871-37295872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373726833	chr6:37295872-37295873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11277445	chr6:37295874-37295875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72491602	chr6:37295877-37295878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376428413	chr6:37295887-37295888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566862801	chr6:37295890-37295891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377009476	chr6:37295965-37295966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs195404	chr6:37295996-37295997	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569211833	chr6:37296031-37296032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs195405	chr6:37296040-37296041	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527581096	chr6:37296046-37296047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374555686	chr6:37296092-37296093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116273769	chr6:37296095-37296096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386700244	chr6:37296100-37296101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201785858	chr6:37296104-37296105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149709570	chr6:37296111-37296112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567438274	chr6:37296127-37296128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572505053	chr6:37296137-37296138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182470184	chr6:37296155-37296156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187107973	chr6:37296315-37296316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575216004	chr6:37296350-37296351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536085733	chr6:37296372-37296373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115013724	chr6:37296480-37296481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201093604	chr6:37296494-37296495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs195407	chr6:37296496-37296497	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs195408	chr6:37296538-37296539	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560441691	chr6:37296564-37296565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529210428	chr6:37296588-37296589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558992668	chr6:37296599-37296600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562920224	chr6:37296613-37296614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372954631	chr6:37296701-37296702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74645036	chr6:37296723-37296724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140368253	chr6:37296742-37296743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192613422	chr6:37296755-37296756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370307754	chr6:37296803-37296804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199560900	chr6:37296819-37296820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398001212	chr6:37296828-37296829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184409751	chr6:37296843-37296844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37277600-37298600	Weak transcription	Psoas Muscle	Psoas
2	chr6:37285000-37298200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:37285000-37298600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:37286000-37298600	Weak transcription	Brain Substantia Nigra	brain
5	chr6:37286000-37298800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:37286000-37299000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:37286200-37298800	Weak transcription	Small Intestine	intestine
8	chr6:37286400-37298600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:37286600-37299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:37287200-37297600	Weak transcription	Esophagus	oesophagus
11	chr6:37287200-37301000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:37287200-37302000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:37287800-37298600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:37287800-37298800	Weak transcription	Pancreas	Pancrea
15	chr6:37288000-37297800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:37288000-37298600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:37288000-37298800	Weak transcription	Brain Angular Gyrus	brain
18	chr6:37288200-37301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:37288600-37298800	Weak transcription	Aorta	Aorta
20	chr6:37288600-37298800	Weak transcription	Right Ventricle	heart
21	chr6:37288600-37301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:37289000-37298600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:37289400-37300800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:37289600-37297000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:37289600-37298600	Weak transcription	Placenta	Placenta
26	chr6:37289600-37298600	Weak transcription	Gastric	stomach
27	chr6:37289600-37298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:37289800-37296600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:37289800-37297000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:37289800-37297200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:37289800-37298400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:37289800-37298400	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:37290000-37299000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:37290200-37298200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:37290600-37297000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:37290600-37298400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:37290600-37302800	Weak transcription	Primary B cells from cord blood	blood
38	chr6:37290800-37296600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:37290800-37297200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:37290800-37298600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:37290800-37298600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:37290800-37298800	Weak transcription	Lung	lung
43	chr6:37291000-37297000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:37291000-37297200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:37291000-37298600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:37291000-37298600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:37291200-37298400	Weak transcription	Spleen	Spleen
48	chr6:37291200-37298600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:37291400-37296800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:37291400-37296800	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links