Variant report

Variant	nsv967961
Chromosome Location	chr4:22406001-22412629
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	chr4:22412420-22412570	HVMF	connective:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
2	CTCF	chr4:22412400-22412550	HepG2	liver:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
3	CTCF	chr4:22412134-22412733	SK-N-SH	brain:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
4	CTCF	chr4:22412380-22412530	GM12870	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
5	CTCF	chr4:22412300-22412450	GM12865	blood:	n/a	n/a
6	CTCF	chr4:22412460-22412610	HA-sp	spinal cord:	n/a	n/a
7	CTCF	chr4:22412380-22412530	HCPEpiC	choroid plexus:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
8	CTCF	chr4:22412355-22412551	GM10248	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
9	CTCF	chr4:22412340-22412490	GM12875	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
10	CTCF	chr4:22406939-22407071	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr4:22412360-22412510	GM12871	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
12	CTCF	chr4:22412400-22412550	HMEC	breast:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
13	CTCF	chr4:22412320-22412470	GM12801	blood:	n/a	chr4:22412450-22412466 chr4:22412449-22412467
14	CTCF	chr4:22412400-22412550	AG09309	skin:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
15	CTCF	chr4:22411940-22412090	AG10803	skin:	n/a	n/a
16	CTCF	chr4:22412400-22412550	HCFaa	heart:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
17	CTCF	chr4:22412351-22412545	LNCaP	prostate:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
18	CTCF	chr4:22412240-22412390	NHEK	skin:	n/a	n/a
19	CTCF	chr4:22412352-22412529	A549	lung:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
20	CTCF	chr4:22412420-22412570	NB4	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
21	CTCF	chr4:22412420-22412570	GM12864	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
22	CTCF	chr4:22412300-22412450	RPTEC	kidney:	n/a	n/a
23	CTCF	chr4:22410600-22410750	GM12867	blood:	n/a	n/a
24	CTCF	chr4:22412309-22412498	A549	lung:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
25	CTCF	chr4:22412351-22412537	GM13977	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
26	CTCF	chr4:22412360-22412510	GM12869	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
27	CTCF	chr4:22412360-22412510	GM12872	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
28	CTCF	chr4:22412256-22412501	ECC-1	luminal epithelium:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
29	CTCF	chr4:22409120-22409270	BJ	skin:	n/a	n/a
30	CTCF	chr4:22412072-22412740	K562	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
31	CTCF	chr4:22412300-22412450	GM12878	blood:	n/a	n/a
32	CTCF	chr4:22412334-22412549	Pancreas_OC	pancreas:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
33	CTCF	chr4:22412374-22412473	Hela-S3	cervix:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
34	CTCF	chr4:22412380-22412530	HPF	lung:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
35	CTCF	chr4:22412340-22412490	HVMF	connective:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
36	CTCF	chr4:22412400-22412550	GM06990	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
37	CTCF	chr4:22412380-22412530	HUVEC	blood vessel:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
38	CTCF	chr4:22412440-22412590	HRPEpiC	eye:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
39	CTCF	chr4:22412320-22412470	HPF	lung:	n/a	chr4:22412450-22412466 chr4:22412449-22412467
40	CTCF	chr4:22412400-22412550	HRE	kidney:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
41	CTCF	chr4:22412340-22412490	HUVEC	blood vessel:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
42	CTCF	chr4:22412580-22412730	GM12873	blood:	n/a	n/a
43	CTCF	chr4:22412340-22412490	HRPEpiC	eye:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
44	CTCF	chr4:22412320-22412470	WERI-Rb-1	eye:	n/a	chr4:22412450-22412466 chr4:22412449-22412467
45	CTCF	chr4:22412380-22412530	HA-sp	spinal cord:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
46	CTCF	chr4:22412460-22412610	WI-38	lung:	n/a	n/a
47	CTCF	chr4:22412374-22412535	GM12878	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
48	CTCF	chr4:22412400-22412550	HL-60	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
49	CTCF	chr4:22412400-22412550	GM12872	blood:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467
50	CTCF	chr4:22412339-22412561	Lung_OC	lung:	n/a	chr4:22412450-22412466 chr4:22412451-22412472 chr4:22412449-22412467

No.	Distal block	Cell Line	Cell type
1	chr4:22407422..22409065-chr4:22411450..22413901,2	K562	blood:
2	chr1:148000162..148000856-chr4:22411148..22411799,2	MCF-7	breast:
3	chr4:22407422..22409065-chr4:22411450..22413901,2	K562	blood:
4	chr4:22412034..22413416-chr4:22608679..22610025,5	MCF-7	breast:
5	chr4:22412171..22412954-chr4:22692156..22692748,2	K562	blood:

Variant related genes	Relation type
GPR125	TF binding region
ENSG00000223491	chromatin interactions
ENSG00000251516	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563699803	chr4:22406010-22406011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145031083	chr4:22406032-22406033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533773032	chr4:22406039-22406040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13123910	chr4:22406043-22406044	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61791980	chr4:22406051-22406052	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184550709	chr4:22406063-22406064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544111684	chr4:22406093-22406094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556406089	chr4:22406138-22406139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs118084083	chr4:22406169-22406170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73800934	chr4:22406194-22406195	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78833932	chr4:22406204-22406205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565095511	chr4:22406207-22406208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116905538	chr4:22406237-22406238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35087972	chr4:22406251-22406252	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565469158	chr4:22406283-22406284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73800935	chr4:22406304-22406305	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550959178	chr4:22406314-22406315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562765747	chr4:22406317-22406318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138969908	chr4:22406318-22406319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533055189	chr4:22406327-22406328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16872624	chr4:22406335-22406336	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs566226537	chr4:22406342-22406343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201599104	chr4:22406361-22406362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533579587	chr4:22406384-22406385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75654809	chr4:22406386-22406387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140686631	chr4:22406434-22406435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375180992	chr4:22406472-22406473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116513383	chr4:22406525-22406526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193272000	chr4:22406545-22406546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184209442	chr4:22406620-22406621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574691642	chr4:22406683-22406684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116869256	chr4:22406705-22406706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7679885	chr4:22406709-22406710	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs573267038	chr4:22406726-22406727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368936281	chr4:22406818-22406819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572119075	chr4:22406819-22406820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74333422	chr4:22406846-22406847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7680253	chr4:22406861-22406862	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs189578356	chr4:22406886-22406887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544893255	chr4:22406924-22406925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569618818	chr4:22406927-22406928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530277178	chr4:22406950-22406951	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs7680424	chr4:22406957-22406958	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11734267	chr4:22406970-22406971	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs559849604	chr4:22406977-22406978	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs28631312	chr4:22406994-22406995	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552221417	chr4:22407031-22407032	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs114648621	chr4:22407038-22407039	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371081321	chr4:22407039-22407040	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs145795067	chr4:22407040-22407041	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22368800-22418600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:22382600-22409600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:22383200-22438000	Weak transcription	Lung	lung
5	chr4:22383600-22442800	Weak transcription	A549	lung
6	chr4:22384200-22413000	Weak transcription	Fetal Heart	heart
7	chr4:22385400-22430400	Weak transcription	Psoas Muscle	Psoas
8	chr4:22386000-22446600	Weak transcription	Fetal Thymus	thymus
9	chr4:22388000-22411400	Weak transcription	NHDF-Ad	bronchial
10	chr4:22388000-22416600	Weak transcription	NHLF	lung
11	chr4:22388200-22432400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:22388200-22442800	Weak transcription	Brain Germinal Matrix	brain
13	chr4:22388400-22417800	Weak transcription	HUVEC	blood vessel
14	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:22388800-22469600	Weak transcription	Colonic Mucosa	Colon
16	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
17	chr4:22390200-22414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:22390600-22407800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:22390600-22423600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:22390600-22439600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:22390600-22456200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:22390600-22459800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:22390800-22407800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:22390800-22418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:22390800-22420400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:22390800-22421400	Weak transcription	HepG2	liver
27	chr4:22390800-22429400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:22391400-22415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:22393000-22435200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:22393400-22444800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:22393600-22407400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:22393600-22459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:22393800-22418000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:22393800-22446400	Weak transcription	NH-A	brain
35	chr4:22393800-22453000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:22397000-22428400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:22397200-22406200	Strong transcription	Fetal Intestine Large	intestine
38	chr4:22397200-22409000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:22397400-22408600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:22397800-22411600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:22397800-22412200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:22398400-22411800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:22398400-22423200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:22399000-22408000	Strong transcription	Fetal Lung	lung
45	chr4:22399000-22409000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:22399000-22416800	Strong transcription	Liver	Liver
47	chr4:22399400-22407000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:22399800-22442800	Weak transcription	Fetal Brain Female	brain
49	chr4:22400000-22448000	Weak transcription	Left Ventricle	heart
50	chr4:22400600-22419800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links