Variant report

Variant	esv3381089
Chromosome Location	chr6:5036503-5040201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5040002..5041588-chr6:5045045..5047695,2	K562	blood:
2	chr6:5034722..5036344-chr6:5039366..5041126,2	K562	blood:
3	chr6:5039816..5042326-chr6:5046841..5049274,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252419	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111849139	chr6:5036504-5036505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192749139	chr6:5036540-5036541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs726743	chr6:5036667-5036668	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs553329245	chr6:5036684-5036685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7738361	chr6:5036708-5036709	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548412998	chr6:5036720-5036721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570195215	chr6:5036721-5036722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537254260	chr6:5036736-5036737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552854415	chr6:5036743-5036744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571157965	chr6:5036766-5036767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73365175	chr6:5036818-5036819	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141018893	chr6:5036819-5036820	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115387778	chr6:5036841-5036842	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150251276	chr6:5036912-5036913	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554377721	chr6:5036958-5036959	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138772171	chr6:5037065-5037066	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2793252	chr6:5037070-5037071	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs564781966	chr6:5037072-5037073	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112421780	chr6:5037073-5037074	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540956819	chr6:5037075-5037076	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559292202	chr6:5037101-5037102	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147490481	chr6:5037215-5037216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183727772	chr6:5037250-5037251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397958724	chr6:5037262-5037263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548621114	chr6:5037358-5037359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563631325	chr6:5037512-5037513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367590563	chr6:5037916-5037917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77482394	chr6:5038060-5038061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80089403	chr6:5038063-5038064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200625775	chr6:5038073-5038074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371778167	chr6:5038130-5038131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375157304	chr6:5038134-5038135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188787815	chr6:5038158-5038159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546277336	chr6:5038175-5038176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372346511	chr6:5038215-5038216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554829122	chr6:5038220-5038221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375424887	chr6:5038243-5038244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369859667	chr6:5038288-5038289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372203528	chr6:5038307-5038308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376817176	chr6:5038405-5038406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181271094	chr6:5038408-5038409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184005612	chr6:5038409-5038410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368880803	chr6:5038478-5038479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560410442	chr6:5038488-5038489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62385153	chr6:5038506-5038507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62385154	chr6:5038538-5038539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113541902	chr6:5038543-5038544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62385155	chr6:5038586-5038587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62385156	chr6:5038628-5038629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552794940	chr6:5038656-5038657	Weak transcription	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5027200-5047200	Weak transcription	Adipose Nuclei	Adipose
2	chr6:5031200-5042800	Weak transcription	Ovary	ovary
3	chr6:5031600-5042800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:5031800-5043800	Weak transcription	Spleen	Spleen
5	chr6:5032800-5037200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:5033400-5036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:5033400-5036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:5033400-5036800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:5033400-5046000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:5033400-5048600	Weak transcription	Aorta	Aorta
11	chr6:5034400-5045200	Weak transcription	Fetal Stomach	stomach
12	chr6:5034800-5036600	Weak transcription	Fetal Lung	lung
13	chr6:5034800-5045600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:5034800-5047400	Weak transcription	Esophagus	oesophagus
15	chr6:5035000-5036600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:5035000-5036600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:5035000-5037600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:5035000-5047400	Weak transcription	Primary B cells from cord blood	blood
19	chr6:5035200-5036600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:5035400-5036600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:5035400-5037200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:5035400-5047800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:5035600-5036600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:5035600-5036800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:5035800-5036800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:5035800-5042600	Weak transcription	Placenta	Placenta
27	chr6:5036000-5037200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:5036200-5036800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:5036200-5036800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:5036200-5037000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:5036200-5037000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:5036200-5037000	Enhancers	HSMM	muscle
33	chr6:5036200-5037200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:5036200-5037200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:5036200-5037200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:5036200-5037200	Enhancers	NHEK	skin
37	chr6:5036400-5036600	Enhancers	Primary hematopoietic stem cells	blood
38	chr6:5036400-5036600	Enhancers	NHDF-Ad	bronchial
39	chr6:5036400-5036600	Enhancers	Osteobl	bone
40	chr6:5036400-5036800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:5036400-5036800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:5036400-5037000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr6:5036400-5037000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:5036400-5037000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:5036400-5037000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:5036400-5037000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:5036400-5037000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:5036400-5037000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:5036400-5037000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:5036400-5037000	Enhancers	A549	lung

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