Variant report

Variant	esv3446130
Chromosome Location	chr6:5034953-5037401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5034722..5036344-chr6:5039366..5041126,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R3G-2	chr6:5035566-5035750	XLOC_005143

Extended variants
information (count: 99 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370010193	chr6:5034955-5034956	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144207505	chr6:5034969-5034970	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150540815	chr6:5034982-5034983	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567062281	chr6:5034986-5034987	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs57171940	chr6:5034987-5034988	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113961005	chr6:5035004-5035005	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs13202507	chr6:5035019-5035020	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538383290	chr6:5035022-5035023	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs36167608	chr6:5035036-5035037	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115769597	chr6:5035090-5035091	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs545151023	chr6:5035104-5035105	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs13202629	chr6:5035112-5035113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs72825900	chr6:5035154-5035155	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113195437	chr6:5035155-5035156	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548965744	chr6:5035194-5035195	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567554702	chr6:5035200-5035201	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531553292	chr6:5035204-5035205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs111756839	chr6:5035205-5035206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192099691	chr6:5035221-5035222	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571337159	chr6:5035234-5035235	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184088417	chr6:5035264-5035265	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553865512	chr6:5035276-5035277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565895101	chr6:5035285-5035286	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs536454309	chr6:5035297-5035298	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377277133	chr6:5035309-5035310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs554914552	chr6:5035347-5035348	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576666597	chr6:5035348-5035349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1536056	chr6:5035369-5035370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73717619	chr6:5035377-5035378	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186990156	chr6:5035402-5035403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191111364	chr6:5035404-5035405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534106162	chr6:5035423-5035424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112746695	chr6:5035473-5035474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554462460	chr6:5035507-5035508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187141441	chr6:5035508-5035509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190011804	chr6:5035510-5035511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531613220	chr6:5035549-5035550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183038467	chr6:5035562-5035563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2994694	chr6:5035652-5035653	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532380605	chr6:5035675-5035676	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs4281005	chr6:5035691-5035692	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565835755	chr6:5035697-5035698	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs187346942	chr6:5035711-5035712	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs9378925	chr6:5035719-5035720	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570181365	chr6:5035727-5035728	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs146659391	chr6:5035756-5035757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528288362	chr6:5035764-5035765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377355849	chr6:5035795-5035796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139930040	chr6:5035810-5035811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs113272615	chr6:5035817-5035818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	21364760	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

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5027000-5036400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:5027200-5047200	Weak transcription	Adipose Nuclei	Adipose
3	chr6:5031200-5042800	Weak transcription	Ovary	ovary
4	chr6:5031400-5036400	Weak transcription	K562	blood
5	chr6:5031600-5042800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:5031800-5043800	Weak transcription	Spleen	Spleen
7	chr6:5032600-5035400	Enhancers	HepG2	liver
8	chr6:5032800-5037200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:5033000-5035000	Enhancers	Fetal Muscle Trunk	muscle
10	chr6:5033000-5035800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:5033000-5035800	Enhancers	Placenta	Placenta
12	chr6:5033000-5036000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:5033400-5035800	Enhancers	NHEK	skin
14	chr6:5033400-5036400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:5033400-5036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:5033400-5036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:5033400-5036800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:5033400-5046000	Weak transcription	Fetal Intestine Small	intestine
19	chr6:5033400-5048600	Weak transcription	Aorta	Aorta
20	chr6:5033600-5035800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:5033600-5036000	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:5033800-5035800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:5033800-5036400	Weak transcription	A549	lung
24	chr6:5034000-5035000	Enhancers	Fetal Muscle Leg	muscle
25	chr6:5034000-5035000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:5034200-5035200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:5034200-5035400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:5034200-5035400	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:5034200-5035400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:5034200-5035400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr6:5034200-5035600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:5034200-5035600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:5034200-5036000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:5034200-5036400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:5034400-5035200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:5034400-5045200	Weak transcription	Fetal Stomach	stomach
37	chr6:5034600-5035000	Enhancers	Primary B cells from cord blood	blood
38	chr6:5034600-5035200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr6:5034600-5035200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:5034600-5035400	Enhancers	Fetal Thymus	thymus
41	chr6:5034600-5035600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:5034800-5035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:5034800-5035600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:5034800-5035600	Weak transcription	Osteobl	bone
45	chr6:5034800-5035800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:5034800-5036400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:5034800-5036600	Weak transcription	Fetal Lung	lung
48	chr6:5034800-5045600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:5034800-5047400	Weak transcription	Esophagus	oesophagus
50	chr6:5035000-5036600	Weak transcription	Fetal Muscle Trunk	muscle

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