Variant report

Variant	nsv600884
Chromosome Location	chr6:5338955-5394992
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:5352377..5354120-chr6:5360443..5362372,2	K562	blood:
2	chr6:5220721..5222969-chr6:5379273..5381024,2	K562	blood:
3	chr6:5263448..5265308-chr6:5346219..5348013,2	K562	blood:
4	chr6:5352377..5354120-chr6:5360443..5362372,2	K562	blood:
5	chr6:5356672..5358762-chr6:5360755..5363627,2	K562	blood:
6	chr6:5214761..5215392-chr6:5379547..5380560,3	MCF-7	breast:
7	chr6:5255894..5257705-chr6:5381224..5383041,2	K562	blood:
8	chr6:5378846..5381566-chr6:5383901..5386296,2	K562	blood:
9	chr6:5354142..5357037-chr6:5358520..5360420,2	K562	blood:
10	chr6:5143540..5144964-chr6:5379399..5380247,6	K562	blood:
11	chr6:5364826..5367079-chr6:5385611..5387966,2	K562	blood:
12	chr6:5383058..5384884-chr6:5386592..5388274,2	K562	blood:
13	chr6:5360554..5362439-chr6:5363496..5365484,2	K562	blood:
14	chr6:5364063..5367061-chr6:5369428..5371092,2	K562	blood:
15	chr6:5380009..5381908-chr6:5391068..5392911,2	K562	blood:
16	chr6:5376489..5378009-chr6:5378380..5380035,2	MCF-7	breast:
17	chr6:5380009..5381908-chr6:5391068..5392911,2	K562	blood:
18	chr6:5364063..5366771-chr6:5369592..5371297,2	K562	blood:
19	chr6:5360554..5362439-chr6:5363496..5365484,2	K562	blood:
20	chr6:5327778..5330476-chr6:5350802..5353723,2	K562	blood:
21	chr6:5378186..5380144-chr6:5383015..5385414,2	K562	blood:
22	chr6:5364063..5367061-chr6:5369428..5371092,2	K562	blood:
23	chr6:5378846..5381566-chr6:5383901..5386296,2	K562	blood:
24	chr6:5364826..5367079-chr6:5385611..5387966,2	K562	blood:
25	chr6:5371917..5373549-chr6:5379735..5382475,2	K562	blood:
26	chr6:5259458..5263167-chr6:5378329..5381459,4	K562	blood:
27	chr6:5337400..5339933-chr6:5352570..5354341,2	K562	blood:
28	chr6:5356672..5358762-chr6:5360755..5363627,2	K562	blood:
29	chr6:5354142..5357037-chr6:5358520..5360420,2	K562	blood:
30	chr6:5371917..5373549-chr6:5379735..5382475,2	K562	blood:
31	chr6:5383058..5384884-chr6:5386592..5388274,2	K562	blood:
32	chr6:5378186..5380144-chr6:5383015..5385414,2	K562	blood:
33	chr6:5351636..5353650-chr6:5354468..5356338,2	K562	blood:
34	chr6:5364063..5366771-chr6:5369592..5371297,2	K562	blood:
35	chr6:5337400..5339933-chr6:5352570..5354341,2	K562	blood:
36	chr6:5143614..5144581-chr6:5379550..5380557,6	MCF-7	breast:
37	chr6:5214746..5216032-chr6:5379652..5380557,3	K562	blood:
38	chr6:5259536..5262981-chr6:5378329..5381673,4	K562	blood:
39	chr6:5376489..5378009-chr6:5378380..5380035,2	MCF-7	breast:
40	chr6:5351636..5353650-chr6:5354468..5356338,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145982	chromatin interactions
ENSG00000214113	chromatin interactions

Extended variants
information (count: 2240 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2240 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2552300	chr6:5338955-5338956	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374231923	chr6:5338958-5338959	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185703243	chr6:5338981-5338982	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536173202	chr6:5338994-5338995	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566930028	chr6:5339025-5339026	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534056185	chr6:5339044-5339045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140380299	chr6:5339074-5339075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539228877	chr6:5339112-5339113	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs150370591	chr6:5339117-5339118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138106193	chr6:5339171-5339172	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556487301	chr6:5339183-5339184	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574886654	chr6:5339242-5339243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545355526	chr6:5339256-5339257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11967544	chr6:5339304-5339305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201078952	chr6:5339324-5339325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397971448	chr6:5339330-5339331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34594004	chr6:5339358-5339359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534290426	chr6:5339384-5339385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557433235	chr6:5339399-5339400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116190017	chr6:5339417-5339418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200312121	chr6:5339461-5339462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377716183	chr6:5339545-5339546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144085407	chr6:5339621-5339622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550890448	chr6:5339628-5339629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77655871	chr6:5339678-5339679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562811110	chr6:5339684-5339685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557168200	chr6:5339819-5339820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576338296	chr6:5339868-5339869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533275112	chr6:5339995-5339996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551753245	chr6:5340032-5340033	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75805994	chr6:5340092-5340093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs534283353	chr6:5340096-5340097	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs549237137	chr6:5340161-5340162	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567842820	chr6:5340204-5340205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538094675	chr6:5340226-5340227	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190953123	chr6:5340227-5340228	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs72815643	chr6:5340234-5340235	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376855088	chr6:5340264-5340265	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs9405825	chr6:5340322-5340323	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557299571	chr6:5340340-5340341	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs138696456	chr6:5340349-5340350	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553271468	chr6:5340369-5340370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs373918590	chr6:5340415-5340416	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555219392	chr6:5340433-5340434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573772043	chr6:5340442-5340443	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs375835930	chr6:5340452-5340453	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs75655523	chr6:5340473-5340474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs116701159	chr6:5340477-5340478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs533229755	chr6:5340482-5340483	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572496402	chr6:5340505-5340506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5303200-5368800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:5320600-5344400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:5325800-5339600	Weak transcription	Fetal Intestine Large	intestine
4	chr6:5326600-5349200	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5326600-5385000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:5327000-5368800	Weak transcription	Aorta	Aorta
7	chr6:5327400-5349400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr6:5327800-5349000	Weak transcription	Primary T cells from cord blood	blood
9	chr6:5332000-5339800	Weak transcription	Left Ventricle	heart
10	chr6:5332000-5340200	Weak transcription	Right Ventricle	heart
11	chr6:5334200-5353600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:5334600-5339000	Weak transcription	Psoas Muscle	Psoas
13	chr6:5334800-5371000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:5337800-5339200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:5337800-5339200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr6:5337800-5380800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:5338000-5339200	Enhancers	Fetal Intestine Small	intestine
18	chr6:5338000-5339200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr6:5338200-5343600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:5338200-5353400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:5338600-5339000	Enhancers	Pancreas	Pancrea
22	chr6:5338600-5340600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:5338600-5340600	Enhancers	Ovary	ovary
24	chr6:5338800-5339200	Flanking Active TSS	GM12878-XiMat	blood
25	chr6:5338800-5340600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:5338800-5344400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:5339000-5339200	Enhancers	Psoas Muscle	Psoas
28	chr6:5339000-5340400	Weak transcription	Pancreas	Pancrea
29	chr6:5339200-5339600	Weak transcription	Fetal Intestine Small	intestine
30	chr6:5339200-5339600	Weak transcription	Psoas Muscle	Psoas
31	chr6:5339200-5340000	Enhancers	GM12878-XiMat	blood
32	chr6:5339200-5340400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:5339200-5352000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:5339200-5368800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:5339600-5340000	Enhancers	Psoas Muscle	Psoas
36	chr6:5339600-5341000	Enhancers	Fetal Intestine Large	intestine
37	chr6:5339600-5342600	Enhancers	Fetal Intestine Small	intestine
38	chr6:5339800-5340600	Enhancers	Left Ventricle	heart
39	chr6:5340000-5340400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:5340000-5340600	Enhancers	Duodenum Mucosa	Duodenum
41	chr6:5340000-5340600	Flanking Active TSS	GM12878-XiMat	blood
42	chr6:5340200-5340400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:5340200-5340600	Enhancers	Colon Smooth Muscle	Colon
44	chr6:5340200-5340600	Enhancers	Right Ventricle	heart
45	chr6:5340200-5344400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:5340400-5340600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:5340400-5340600	Enhancers	Pancreas	Pancrea
48	chr6:5340600-5342000	Enhancers	GM12878-XiMat	blood
49	chr6:5340600-5344000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:5340600-5344000	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links