Variant report

Variant	esv1828877
Chromosome Location	chr6:4359804-4391474
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:18)
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	chr6:4358711..4363126-chr6:4363507..4365655,4	MCF-7	breast:
2	chr6:4368958..4371929-chr6:4378307..4380468,2	K562	blood:
3	chr6:4371859..4373766-chr6:4377826..4380202,2	MCF-7	breast:
4	chr6:4340460..4343142-chr6:4357521..4360296,2	MCF-7	breast:
5	chr6:4368958..4371929-chr6:4378307..4380468,2	K562	blood:
6	chr6:4357867..4361282-chr6:4367398..4370344,4	MCF-7	breast:
7	chr6:4359417..4361025-chr6:4363589..4366332,2	MCF-7	breast:
8	chr6:4358711..4363126-chr6:4363507..4365655,4	MCF-7	breast:
9	chr6:4358738..4361729-chr6:4368799..4370354,2	K562	blood:
10	chr6:4359577..4361173-chr6:4490171..4493110,2	MCF-7	breast:
11	chr6:4319275..4321491-chr6:4359897..4362207,2	MCF-7	breast:
12	chr6:4358738..4361729-chr6:4368799..4370354,2	K562	blood:
13	chr6:4357867..4361282-chr6:4367398..4370344,4	MCF-7	breast:
14	chr6:4359417..4361025-chr6:4363589..4366332,2	MCF-7	breast:
15	chr6:4365316..4368041-chr6:5177218..5180072,2	K562	blood:
16	chr6:4371859..4373766-chr6:4377826..4380202,2	MCF-7	breast:
17	chr6:4368833..4371140-chr6:4377835..4379659,2	MCF-7	breast:
18	chr6:4365852..4368376-chr6:4465065..4467160,2	MCF-7	breast:
19	chr11:65192592..65193389-chr6:4359179..4360144,2	Hela-S3	cervix:
20	chr6:4368833..4371140-chr6:4377835..4379659,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf201-20	chr6:4383910-4385242	NONHSAT107417
2	lnc-C6orf201-20	chr6:4389759-4389887	NONHSAT107417
3	lnc-C6orf201-20	chr6:4390074-4390322	NONHSAT107417
4	lnc-C6orf201-20	chr6:4382355-4382635	NONHSAT107406
5	lnc-C6orf201-20	chr6:4388879-4389253	NONHSAT107417
6	lnc-C6orf201-20	chr6:4388348-4388486	NONHSAT107417
7	lnc-C6orf201-22	chr6:4369433-4369742	NONHSAT107410
8	lnc-C6orf201-20	chr6:4387701-4387838	NONHSAT107417
9	lnc-C6orf201-22	chr6:4370140-4370561	NONHSAT107410
10	lnc-C6orf201-20	chr6:4383203-4383512	NONHSAT107417
11	lnc-C6orf201-20	chr6:4383171-4383281	NONHSAT107406
12	lnc-C6orf201-20	chr6:4367057-4367156	NONHSAT107406
13	lnc-C6orf201-20	chr6:4387336-4387427	NONHSAT107417
14	lnc-C6orf201-20	chr6:4383602-4383650	NONHSAT107406
15	lnc-C6orf201-20	chr6:4371497-4371760	NONHSAT107406
16	lnc-C6orf201-20	chr6:4390443-4390705	NONHSAT107417
17	lnc-C6orf201-20	chr6:4386777-4387080	NONHSAT107417
18	lnc-C6orf201-20	chr6:4388567-4388781	NONHSAT107417

No data

Variant related genes	Relation type
ENSG00000260239	chromatin interactions

Extended variants
information (count: 1312 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1312 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573562741	chr6:4359845-4359846	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545732111	chr6:4359892-4359893	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188032680	chr6:4359899-4359900	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559421421	chr6:4359904-4359905	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192827404	chr6:4359939-4359940	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560660516	chr6:4359978-4359979	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34906860	chr6:4359981-4359982	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552697284	chr6:4360015-4360016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140838861	chr6:4360018-4360019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569335638	chr6:4360053-4360054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550759017	chr6:4360088-4360089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561426523	chr6:4360105-4360106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372623602	chr6:4360202-4360203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374137665	chr6:4360205-4360206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530184231	chr6:4360229-4360230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570786109	chr6:4360244-4360245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150309994	chr6:4360271-4360272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550459161	chr6:4360309-4360310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs79380008	chr6:4360328-4360329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370233607	chr6:4360349-4360350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117752601	chr6:4360356-4360357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113473575	chr6:4360359-4360360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567503299	chr6:4360369-4360370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11752594	chr6:4360380-4360381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78305475	chr6:4360446-4360447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538034132	chr6:4360447-4360448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143089169	chr6:4360456-4360457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574454240	chr6:4360457-4360458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113265702	chr6:4360470-4360471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374228224	chr6:4360478-4360479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553694602	chr6:4360511-4360512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555175237	chr6:4360522-4360523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576936637	chr6:4360527-4360528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545672906	chr6:4360573-4360574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373260070	chr6:4360604-4360605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77328003	chr6:4360624-4360625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113056046	chr6:4360665-4360666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544789456	chr6:4360677-4360678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143242909	chr6:4360712-4360713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534482837	chr6:4360716-4360717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189051227	chr6:4360766-4360767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs795214	chr6:4360770-4360771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576760587	chr6:4360789-4360790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147506686	chr6:4360795-4360796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552192370	chr6:4360840-4360841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4959945	chr6:4360853-4360854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374238409	chr6:4360875-4360876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557743410	chr6:4360926-4360927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs795215	chr6:4360976-4360977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138589360	chr6:4361077-4361078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Schizophrenia	20967226	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4357400-4360000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:4357400-4360600	Enhancers	Fetal Muscle Trunk	muscle
3	chr6:4358400-4360000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:4358600-4360000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:4358600-4360000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:4358600-4360000	Enhancers	Psoas Muscle	Psoas
7	chr6:4358600-4360600	Enhancers	Fetal Heart	heart
8	chr6:4358800-4360000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:4358800-4364000	Weak transcription	Gastric	stomach
10	chr6:4359200-4360000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:4359200-4360000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:4359400-4363400	Weak transcription	Small Intestine	intestine
13	chr6:4359400-4364000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:4359600-4360000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:4359600-4360000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:4359600-4360000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:4359600-4360000	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:4359600-4360000	Enhancers	HSMMtube	muscle
19	chr6:4359600-4360000	Enhancers	HUVEC	blood vessel
20	chr6:4359600-4360000	Enhancers	NH-A	brain
21	chr6:4359600-4360200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:4359600-4360200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:4359600-4360200	Enhancers	NHEK	skin
24	chr6:4359600-4360400	Enhancers	Osteobl	bone
25	chr6:4359600-4360600	Enhancers	NHLF	lung
26	chr6:4359600-4361200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:4359600-4363000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:4359600-4363400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:4359600-4374600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:4359800-4360000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:4359800-4360000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:4359800-4360000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:4359800-4360000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:4359800-4360000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:4359800-4360600	Enhancers	HMEC	breast
36	chr6:4359800-4360600	Enhancers	NHDF-Ad	bronchial
37	chr6:4359800-4361000	Enhancers	A549	lung
38	chr6:4359800-4361000	Enhancers	Hela-S3	cervix
39	chr6:4359800-4361400	Weak transcription	K562	blood
40	chr6:4359800-4362400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:4359800-4362800	Weak transcription	Fetal Intestine Large	intestine
42	chr6:4359800-4363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:4359800-4363000	Weak transcription	Colonic Mucosa	Colon
44	chr6:4359800-4363000	Weak transcription	Fetal Intestine Small	intestine
45	chr6:4359800-4363000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:4359800-4366600	Weak transcription	Right Atrium	heart
47	chr6:4359800-4368800	Weak transcription	Left Ventricle	heart
48	chr6:4359800-4369400	Weak transcription	HSMM	muscle
49	chr6:4360000-4360200	Weak transcription	Psoas Muscle	Psoas
50	chr6:4360000-4360800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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