Variant report

Variant	nsv969345
Chromosome Location	chr6:5608180-5611406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:5610940-5611090	HRE	kidney:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
2	CTCF	chr6:5610880-5611030	HFF	foreskin:	n/a	n/a
3	CTCF	chr6:5610960-5611110	WERI-Rb-1	eye:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
4	CTCF	chr6:5610960-5611110	HBMEC	blood vessel:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
5	CTCF	chr6:5610920-5611070	HPAF	blood vessel:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
6	CTCF	chr6:5610920-5611070	HMF	breast:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
7	CTCF	chr6:5610940-5611090	HCPEpiC	choroid plexus:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
8	CTCF	chr6:5611020-5611170	HepG2	liver:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
9	CTCF	chr6:5610940-5611090	AG04450	lung:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
10	CTCF	chr6:5611004-5611113	H1-hESC	embryonic stem cell:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
11	CTCF	chr6:5610962-5611071	HepG2	liver:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
12	CTCF	chr6:5611020-5611170	GM12874	blood:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
13	CTCF	chr6:5610990-5611136	MCF-7	breast:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
14	CTCF	chr6:5611049-5611123	GM12892	blood:	n/a	n/a
15	CTCF	chr6:5610940-5611090	HVMF	connective:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
16	CTCF	chr6:5610975-5611136	MCF-7	breast:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
17	CTCF	chr6:5611137-5611141	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:5611000-5611150	HEK293	kidney:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
19	CTCF	chr6:5611040-5611190	HMEC	breast:	n/a	n/a
20	CTCF	chr6:5610960-5611110	BE2_C	brain:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
21	CTCF	chr6:5611220-5611370	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr6:5610960-5611110	HFF-Myc	foreskin:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
23	CTCF	chr6:5610980-5611130	HRPEpiC	eye:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
24	CTCF	chr6:5611033-5611074	ProgFib	skin:	n/a	chr6:5611033-5611043
25	CTCF	chr6:5610940-5611090	K562	blood:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
26	CTCF	chr6:5611020-5611170	GM12873	blood:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
27	CTCF	chr6:5610940-5611090	Caco-2	colon:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
28	CTCF	chr6:5611038-5611144	Fibrobl	skin:	n/a	n/a
29	CTCF	chr6:5611026-5611152	MCF-7	breast:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
30	CTCF	chr6:5610995-5611071	K562	blood:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
31	CTCF	chr6:5610940-5611090	HBMEC	blood vessel:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
32	CTCF	chr6:5611015-5611143	MCF-7	breast:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
33	CTCF	chr6:5610960-5611110	HEK293	kidney:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
34	CTCF	chr6:5611020-5611170	GM12872	blood:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
35	CTCF	chr6:5610906-5611156	HepG2	liver:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
36	CTCF	chr6:5611020-5611170	BE2_C	brain:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
37	CTCF	chr6:5610880-5611030	GM06990	blood:	n/a	n/a
38	CTCF	chr6:5610940-5611090	WERI-Rb-1	eye:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
39	CTCF	chr6:5610960-5611110	Hela-S3	cervix:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
40	CTCF	chr6:5611018-5611094	A549	lung:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
41	CTCF	chr6:5610920-5611070	HCPEpiC	choroid plexus:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
42	CTCF	chr6:5611162-5611163	MCF-7	breast:	n/a	n/a
43	CTCF	chr6:5611181-5611223	MCF-7	breast:	n/a	chr6:5611214-5611222
44	KAP1	chr6:5611106-5611414	U2OS	brain:	n/a	n/a
45	MAX	chr6:5610948-5611238	K562	blood:	n/a	chr6:5611073-5611084 chr6:5611074-5611084 chr6:5611074-5611084 chr6:5611072-5611085 chr6:5611075-5611084
46	MYC	chr6:5610988-5611200	K562	blood:	n/a	chr6:5611073-5611084 chr6:5611074-5611084 chr6:5611074-5611084 chr6:5611072-5611085 chr6:5611075-5611084
47	POLR2A	chr6:5611108-5611143	Gliobla	brain:	n/a	n/a
48	RAD21	chr6:5610926-5611166	SK-N-SH_RA	brain:	n/a	chr6:5611030-5611039
49	RAD21	chr6:5610940-5611110	SK-N-SH_RA	brain:	n/a	chr6:5611030-5611039
50	RAD21	chr6:5610919-5611208	H1-hESC	embryonic stem cell:	n/a	chr6:5611030-5611039

No.	Distal block	Cell Line	Cell type
1	chr6:5606607..5608411-chr6:5609552..5611263,2	K562	blood:
2	chr6:5604267..5607635-chr6:5611344..5613997,3	K562	blood:
3	chr6:5598894..5600945-chr6:5606990..5609322,2	K562	blood:
4	chr6:5604267..5607635-chr6:5611210..5613373,3	K562	blood:

Variant related genes	Relation type
HNRNPA1P37	TF binding region
ENSG00000218574	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568722790	chr6:5608189-5608190	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370219449	chr6:5608212-5608213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201721370	chr6:5608217-5608218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535116215	chr6:5608231-5608232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs55680830	chr6:5608232-5608233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142003643	chr6:5608267-5608268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557675920	chr6:5608273-5608274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9504454	chr6:5608281-5608282	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373230210	chr6:5608282-5608283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs55790549	chr6:5608312-5608313	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573948047	chr6:5608318-5608319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375514182	chr6:5608386-5608387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544391868	chr6:5608468-5608469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13196232	chr6:5608482-5608483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs578218962	chr6:5608517-5608518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146900044	chr6:5608520-5608521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62385462	chr6:5608549-5608550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149013090	chr6:5608566-5608567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386696518	chr6:5608570-5608571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7738509	chr6:5608571-5608572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192170912	chr6:5608588-5608589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550408329	chr6:5608603-5608604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568609949	chr6:5608611-5608612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372911959	chr6:5608698-5608699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3763178	chr6:5608732-5608733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576329081	chr6:5608742-5608743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566457718	chr6:5608759-5608760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7738833	chr6:5608766-5608767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555599531	chr6:5608782-5608783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567560391	chr6:5608803-5608804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538190364	chr6:5608836-5608837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112625068	chr6:5608849-5608850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199763239	chr6:5608857-5608858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578134060	chr6:5608861-5608862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545648356	chr6:5608874-5608875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56088698	chr6:5608891-5608892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554430512	chr6:5608912-5608913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572567109	chr6:5608922-5608923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570970873	chr6:5608939-5608940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561583678	chr6:5608941-5608942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558805091	chr6:5608942-5608943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528929533	chr6:5608966-5608967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143744667	chr6:5608977-5608978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562275880	chr6:5609029-5609030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368105422	chr6:5609115-5609116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34515855	chr6:5609123-5609124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397786718	chr6:5609133-5609134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532842492	chr6:5609152-5609153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75943866	chr6:5609191-5609192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75131778	chr6:5609193-5609194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5577400-5639800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:5581000-5614200	Weak transcription	Lung	lung
3	chr6:5581000-5640400	Weak transcription	Gastric	stomach
4	chr6:5587200-5619400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5590800-5622000	Weak transcription	Right Atrium	heart
6	chr6:5591200-5619000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:5591600-5626400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:5592200-5619200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:5593400-5621000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:5603800-5614000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:5604800-5611000	Weak transcription	Pancreas	Pancrea
12	chr6:5605600-5618800	Weak transcription	Primary T cells from cord blood	blood
13	chr6:5605600-5619200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:5605800-5617200	Weak transcription	Left Ventricle	heart
15	chr6:5607200-5614200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:5609800-5613800	Weak transcription	Ovary	ovary
17	chr6:5610400-5620200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:5610600-5641000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:5611000-5611400	Enhancers	Pancreas	Pancrea
20	chr6:5611200-5612400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:5611400-5614200	Weak transcription	Pancreas	Pancrea

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