Variant report

Variant	nsv520294
Chromosome Location	chr6:37360557-37380324
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	chr6:37370276..37372478-chr6:37392571..37394863,2	K562	blood:
2	chr6:37354319..37358453-chr6:37358678..37362908,5	K562	blood:
3	chr6:37376102..37378184-chr6:37397531..37399649,2	K562	blood:
4	chr6:37361153..37363710-chr6:37365153..37366702,2	MCF-7	breast:
5	chr6:37358839..37361395-chr6:37362203..37365759,3	K562	blood:
6	chr6:37379072..37381849-chr6:37391515..37393153,2	MCF-7	breast:
7	chr6:37375004..37377586-chr6:37391098..37392841,2	MCF-7	breast:
8	chr6:36930815..36932327-chr6:37373552..37376539,2	K562	blood:
9	chr6:37361153..37363710-chr6:37365153..37366702,2	MCF-7	breast:
10	chr6:37364657..37367034-chr6:37394152..37396378,2	K562	blood:
11	chr6:37358839..37361395-chr6:37362203..37365759,3	K562	blood:
12	chr6:37360851..37366241-chr6:37366774..37371728,6	K562	blood:
13	chr6:37368034..37370544-chr6:37386346..37388748,2	K562	blood:
14	chr6:37364870..37368113-chr6:37400250..37402090,3	K562	blood:
15	chr6:37378517..37380520-chr6:37381808..37383680,2	K562	blood:
16	chr20:52278366..52278868-chr6:37379498..37380000,2	MCF-7	breast:
17	chr6:37348008..37350408-chr6:37358756..37360688,2	K562	blood:
18	chr6:37369587..37371664-chr6:37416739..37419085,2	K562	blood:
19	chr6:37360851..37366241-chr6:37366774..37371728,6	K562	blood:
20	chr6:37366536..37368392-chr6:37392528..37396420,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137200	chromatin interactions

Extended variants
information (count: 578 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs195434	chr6:37360557-37360558	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535805903	chr6:37360721-37360722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539363649	chr6:37360816-37360817	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556005170	chr6:37360866-37360867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574371852	chr6:37360883-37360884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188585040	chr6:37360916-37360917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557102029	chr6:37360979-37360980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576968503	chr6:37360984-37360985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545913707	chr6:37360985-37360986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149694979	chr6:37360987-37360988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541825016	chr6:37360997-37360998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572980599	chr6:37361067-37361068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541778824	chr6:37361123-37361124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561981429	chr6:37361182-37361183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550901889	chr6:37361244-37361245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530817868	chr6:37361306-37361307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193250202	chr6:37361350-37361351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185714374	chr6:37361365-37361366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533290596	chr6:37361436-37361437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9462307	chr6:37361509-37361510	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs61308619	chr6:37361538-37361539	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536020282	chr6:37361582-37361583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190182105	chr6:37361591-37361592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569495432	chr6:37361603-37361604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537049358	chr6:37361637-37361638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373607265	chr6:37361642-37361643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545576395	chr6:37361882-37361883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576899774	chr6:37361912-37361913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145533836	chr6:37361921-37361922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553002218	chr6:37361928-37361929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115321600	chr6:37361964-37361965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541964201	chr6:37361985-37361986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555374346	chr6:37362106-37362107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572339183	chr6:37362225-37362226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114611753	chr6:37362230-37362231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9470575	chr6:37362367-37362368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544091668	chr6:37362411-37362412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537176651	chr6:37362421-37362422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564172305	chr6:37362425-37362426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563981871	chr6:37362468-37362469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148559515	chr6:37362469-37362470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181690071	chr6:37362579-37362580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532468126	chr6:37362603-37362604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529474472	chr6:37362631-37362632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541081326	chr6:37362647-37362648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142938325	chr6:37362655-37362656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569350250	chr6:37362702-37362703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559807028	chr6:37362703-37362704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184057967	chr6:37362707-37362708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188741657	chr6:37362708-37362709	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37324000-37366800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:37328000-37360800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:37328000-37361800	Strong transcription	Dnd41	blood
4	chr6:37328600-37361200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr6:37334400-37363200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:37337400-37362600	Weak transcription	Psoas Muscle	Psoas
7	chr6:37337600-37361000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr6:37337600-37363200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:37337600-37363200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:37339200-37361000	Weak transcription	Fetal Brain Male	brain
11	chr6:37339800-37361400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:37342400-37362000	Strong transcription	Adipose Nuclei	Adipose
13	chr6:37343000-37363600	Strong transcription	Fetal Stomach	stomach
14	chr6:37343000-37365000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:37344000-37361800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:37345600-37363400	Weak transcription	HUVEC	blood vessel
17	chr6:37346000-37362400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:37347600-37363000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:37349800-37363800	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:37350000-37368600	Weak transcription	Fetal Heart	heart
21	chr6:37352200-37360600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:37352600-37363400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:37353800-37361200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:37353800-37361200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:37353800-37361800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:37353800-37362000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:37353800-37362000	Strong transcription	Primary B cells from cord blood	blood
28	chr6:37353800-37363400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr6:37353800-37363800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:37354000-37361000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:37354000-37361200	Strong transcription	Fetal Thymus	thymus
32	chr6:37354000-37361600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:37354000-37361600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:37354000-37361600	Strong transcription	HepG2	liver
35	chr6:37354000-37363000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:37354200-37361200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr6:37354200-37361600	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr6:37354400-37361200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:37355200-37360800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr6:37355600-37360800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr6:37355600-37361400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:37355600-37361600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr6:37355600-37362800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:37355800-37361600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:37355800-37361800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:37355800-37361800	Strong transcription	Brain Anterior Caudate	brain
47	chr6:37356200-37361200	Strong transcription	Osteobl	bone
48	chr6:37356200-37361800	Strong transcription	Aorta	Aorta
49	chr6:37356200-37367400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:37356600-37362000	Strong transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links