Variant report

Variant	nsv520567
Chromosome Location	chr6:38144269-38152460
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:38144847..38147788-chr6:38455910..38458463,2	MCF-7	breast:
2	chr6:38147181..38149521-chr6:38161439..38163786,2	K562	blood:
3	chr6:38137479..38141029-chr6:38144999..38147856,3	K562	blood:
4	chr6:38148276..38150715-chr6:38151734..38153951,2	K562	blood:
5	chr6:38148276..38150715-chr6:38151734..38153951,2	K562	blood:
6	chr6:38143259..38145952-chr6:38146356..38150615,4	K562	blood:
7	chr6:38144288..38145943-chr6:38150370..38152832,2	MCF-7	breast:
8	chr6:38144288..38145943-chr6:38150370..38152832,2	MCF-7	breast:
9	chr17:18793387..18794889-chr6:38147135..38149735,2	MCF-7	breast:
10	chr6:38150165..38152745-chr6:38153295..38155930,2	MCF-7	breast:
11	chr6:38137479..38141029-chr6:38143334..38147856,5	K562	blood:
12	chr6:38143259..38145952-chr6:38146356..38150615,4	K562	blood:
13	chr6:38149475..38152864-chr6:38153550..38156647,3	K562	blood:
14	chr6:38143298..38146088-chr6:38153690..38155707,2	K562	blood:
15	chr6:38138513..38140843-chr6:38152378..38154915,2	K562	blood:
16	chr6:38138220..38140617-chr6:38142892..38144834,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MDGA1-2	chr6:38144864-38145069	ENSG00000225874.1

No data

Extended variants
information (count: 314 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2395694	chr6:38144269-38144270	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149746356	chr6:38144270-38144271	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527518149	chr6:38144285-38144286	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75988488	chr6:38144286-38144287	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11754110	chr6:38144318-38144319	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs186658004	chr6:38144339-38144340	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116390196	chr6:38144371-38144372	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569670887	chr6:38144404-38144405	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538642015	chr6:38144471-38144472	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558860319	chr6:38144492-38144493	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572387068	chr6:38144538-38144539	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534914209	chr6:38144562-38144563	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554835242	chr6:38144598-38144599	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540671249	chr6:38144606-38144607	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117772666	chr6:38144607-38144608	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191511770	chr6:38144614-38144615	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147770919	chr6:38144680-38144681	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368245668	chr6:38144723-38144724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10947714	chr6:38144724-38144725	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs76754614	chr6:38144730-38144731	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368438933	chr6:38144759-38144760	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141170469	chr6:38144781-38144782	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560880700	chr6:38144806-38144807	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530218117	chr6:38144872-38144873	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs543623462	chr6:38144917-38144918	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs550056628	chr6:38144922-38144923	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs146952854	chr6:38144935-38144936	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs182668944	chr6:38144949-38144950	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs566051663	chr6:38144954-38144955	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs534971547	chr6:38144978-38144979	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs75173496	chr6:38145049-38145050	Weak transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs552608425	chr6:38145079-38145080	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568513998	chr6:38145131-38145132	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537642966	chr6:38145137-38145138	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559601917	chr6:38145154-38145155	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188981586	chr6:38145159-38145160	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77403835	chr6:38145171-38145172	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147595811	chr6:38145212-38145213	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149064951	chr6:38145233-38145234	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143323502	chr6:38145239-38145240	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79625917	chr6:38145262-38145263	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193139202	chr6:38145335-38145336	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115036120	chr6:38145401-38145402	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148352518	chr6:38145422-38145423	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574514780	chr6:38145459-38145460	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141549192	chr6:38145460-38145461	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs568405730	chr6:38145462-38145463	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs185264774	chr6:38145463-38145464	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145919551	chr6:38145465-38145466	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528785212	chr6:38145517-38145518	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38121800-38153600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:38123200-38153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr6:38123400-38155400	Weak transcription	Aorta	Aorta
5	chr6:38123400-38157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:38123600-38153000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:38123800-38151200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:38124000-38152200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:38124200-38151800	Weak transcription	Brain Anterior Caudate	brain
11	chr6:38129200-38145600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:38129400-38144600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:38130000-38144400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:38131800-38167800	Weak transcription	Right Atrium	heart
15	chr6:38133600-38144600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:38133600-38160400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:38133600-38164000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:38136000-38159800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:38136800-38145200	Genic enhancers	Fetal Intestine Small	intestine
20	chr6:38136800-38156000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:38138200-38147200	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:38138400-38144400	Weak transcription	Pancreas	Pancrea
23	chr6:38138400-38145200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:38138400-38145400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:38138400-38147200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:38138400-38147200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:38138600-38145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:38138600-38169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:38138800-38144600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:38138800-38145400	Weak transcription	Fetal Brain Female	brain
31	chr6:38138800-38147200	Weak transcription	Brain Germinal Matrix	brain
32	chr6:38138800-38147200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:38139000-38144600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:38139200-38144800	Weak transcription	HSMM	muscle
35	chr6:38139800-38144400	Strong transcription	Fetal Stomach	stomach
36	chr6:38139800-38145000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:38140000-38144800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:38140000-38147200	Weak transcription	Brain Angular Gyrus	brain
39	chr6:38140400-38146200	Weak transcription	Small Intestine	intestine
40	chr6:38141000-38144400	Strong transcription	Fetal Muscle Leg	muscle
41	chr6:38141200-38145000	Weak transcription	Liver	Liver
42	chr6:38141200-38152400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:38141400-38144600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr6:38141600-38166200	Weak transcription	Left Ventricle	heart
45	chr6:38141800-38144400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:38141800-38146400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:38141800-38168000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:38142000-38150200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:38142200-38155400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:38142400-38144400	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links