Variant report

Variant	esv3380397
Chromosome Location	chr2:145035938-145056247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:244)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:145043067-145043157	K562	blood:	n/a	n/a
2	CTCF	chr2:145042531-145042566	Lung_OC	lung:	n/a	n/a
3	FAM48A	chr2:145043530-145043565	GM12878	blood:	n/a	n/a
4	FOXA1	chr2:145047329-145047662	HepG2	liver:	n/a	n/a
5	GATA2	chr2:145047893-145048268	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr2:145047926-145048229	SH-SY5Y	brain:	n/a	n/a
7	JUN	chr2:145042002-145042083	K562	blood:	n/a	n/a
8	MAX	chr2:145052627-145052937	K562	blood:	n/a	n/a
9	MYC	chr2:145052706-145052880	K562	blood:	n/a	n/a
10	MYC	chr2:145041945-145042065	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr2:145056231-145056751	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr2:145046820-145046829	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:145046633-145046790	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:145043744-145043900	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:145052664-145052668	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:145047506-145047507	MCF10A-Er-Src	breast:	n/a	n/a
17	RAD21	chr2:145048785-145048818	A549	lung:	n/a	n/a
18	RCOR1	chr2:145042913-145043229	K562	blood:	n/a	n/a
19	RCOR1	chr2:145042973-145043198	K562	blood:	n/a	n/a
20	RFX5	chr2:145036699-145036822	K562	blood:	n/a	n/a
21	SPI1	chr2:145047559-145047703	K562	blood:	n/a	n/a
22	STAT3	chr2:145042687-145042799	MCF10A-Er-Src	breast:	n/a	n/a
23	WRNIP1	chr2:145037105-145037168	GM12878	blood:	n/a	n/a
24	ZNF143	chr2:145042961-145043217	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:145051829-145051879	CMK	blood:	n/a
2	chr2:145052739-145052789	GM12892	blood:	n/a
3	chr2:145037160-145037210	HMEC	breast:	n/a
4	chr2:145037160-145037210	Hela-S3	cervix:	n/a
5	chr2:145051829-145051879	MCF10A-Er-Src	breast:	n/a
6	chr2:145052759-145052809	A549	lung:	n/a
7	chr2:145052759-145052809	HEEpiC	esophagus:	n/a
8	chr2:145052759-145052809	HepG2	liver:	n/a
9	chr2:145037160-145037210	GM12891	blood:	n/a
10	chr2:145051829-145051879	NT2-D1	testis:	n/a
11	chr2:145052739-145052789	NT2-D1	testis:	n/a
12	chr2:145037160-145037210	NHDF-neo	bronchial:	n/a
13	chr2:145052739-145052789	AG10803	skin:	n/a
14	chr2:145052739-145052789	ECC-1	luminal epithelium:	n/a
15	chr2:145037160-145037210	HNPCEpiC	eye:	n/a
16	chr2:145051829-145051879	HCM	heart:	n/a
17	chr2:145052739-145052789	T-47D	breast:	n/a
18	chr2:145051829-145051879	NB4	blood:	n/a
19	chr2:145037160-145037210	HEK293	kidney:	embryo
20	chr2:145052759-145052809	Hepatocyte	liver:	n/a
21	chr2:145037160-145037210	Hepatocyte	liver:	n/a
22	chr2:145052759-145052809	MCF10A-Er-Src	breast:	n/a
23	chr2:145052759-145052809	HCM	heart:	n/a
24	chr2:145052739-145052789	AoSMC	blood vessel:	n/a
25	chr2:145051829-145051879	HUVEC	blood vessel:	n/a
26	chr2:145052739-145052789	HNPCEpiC	eye:	n/a
27	chr2:145037160-145037210	HL-60	blood:	n/a
28	chr2:145051829-145051879	GM19239	blood:	n/a
29	chr2:145037160-145037210	AG09309	skin:	n/a
30	chr2:145052739-145052789	AG04450	lung:	fetal
31	chr2:145052739-145052789	GM19239	blood:	n/a
32	chr2:145051829-145051879	HEEpiC	esophagus:	n/a
33	chr2:145052739-145052789	K562	blood:	n/a
34	chr2:145051829-145051879	AG09309	skin:	n/a
35	chr2:145052739-145052789	NHBE	bronchial:	n/a
36	chr2:145051829-145051879	Hela-S3	cervix:	n/a
37	chr2:145051829-145051879	HRPEpiC	eye:	n/a
38	chr2:145052739-145052789	AG09309	skin:	n/a
39	chr2:145052739-145052789	HCM	heart:	n/a
40	chr2:145037160-145037210	HCF	heart:	n/a
41	chr2:145051829-145051879	NHDF-neo	bronchial:	n/a
42	chr2:145037160-145037210	IMR90	lung:	fetal
43	chr2:145037160-145037210	U87	brain:	n/a
44	chr2:145052739-145052789	Hepatocyte	liver:	n/a
45	chr2:145052739-145052789	HEK293	kidney:	embryo
46	chr2:145052739-145052789	HIPEpiC	eye:	n/a
47	chr2:145052759-145052809	GM12892	blood:	n/a
48	chr2:145051829-145051879	ECC-1	luminal epithelium:	n/a
49	chr2:145051829-145051879	GM12878	blood:	n/a
50	chr2:145052739-145052789	HRPEpiC	eye:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145027970..145030517-chr2:145035911..145037676,2	K562	blood:
2	chr2:145025434..145028287-chr2:145045134..145047501,2	K562	blood:
3	chr2:145038354..145040958-chr2:145042479..145045337,2	K562	blood:
4	chr2:145042494..145045279-chr2:145088197..145089944,2	MCF-7	breast:
5	chr2:145024573..145027262-chr2:145035787..145037400,2	MCF-7	breast:
6	chr2:145035803..145037758-chr2:145048558..145051256,2	K562	blood:
7	chr2:145048213..145049915-chr2:145089861..145091447,2	K562	blood:
8	chr2:145042630..145045332-chr2:145048605..145050894,2	MCF-7	breast:
9	chr2:145038354..145040958-chr2:145042479..145045337,2	K562	blood:
10	chr2:145053854..145055815-chr2:145056846..145060326,3	K562	blood:
11	chr2:145049488..145052095-chr2:145052719..145055975,3	K562	blood:
12	chr2:145049488..145052095-chr2:145052719..145055975,3	K562	blood:
13	chr2:145042630..145045332-chr2:145048605..145050894,2	MCF-7	breast:
14	chr2:145045908..145048354-chr2:145051759..145054020,2	MCF-7	breast:
15	chr2:145035803..145037758-chr2:145048558..145051256,2	K562	blood:

No data

Variant related genes	Relation type
GTDC1	TF binding region
GTDC1	CpG island
ENSG00000121964	chromatin interactions

Extended variants
information (count: 664 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527381106	chr2:145035938-145035939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552453709	chr2:145035949-145035950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571038523	chr2:145035952-145035953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367898488	chr2:145035998-145035999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10928210	chr2:145036035-145036036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550039235	chr2:145036044-145036045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142734547	chr2:145036062-145036063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535453971	chr2:145036169-145036170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547391445	chr2:145036233-145036234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566001650	chr2:145036238-145036239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375594542	chr2:145036302-145036303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184377468	chr2:145036340-145036341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576949140	chr2:145036373-145036374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538069802	chr2:145036385-145036386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556485522	chr2:145036425-145036426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200520335	chr2:145036542-145036543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533920786	chr2:145036638-145036639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112770647	chr2:145036666-145036667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541797005	chr2:145036723-145036724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188763306	chr2:145036770-145036771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145177208	chr2:145036802-145036803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148372543	chr2:145036803-145036804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543126331	chr2:145036861-145036862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368238676	chr2:145036940-145036941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112376731	chr2:145036941-145036942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374550716	chr2:145036952-145036953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71266715	chr2:145036958-145036959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564054420	chr2:145036977-145036978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35369866	chr2:145037119-145037120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531924927	chr2:145037126-145037127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73964969	chr2:145037195-145037196	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574637406	chr2:145037225-145037226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113022390	chr2:145037227-145037228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529552981	chr2:145037271-145037272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181913841	chr2:145037306-145037307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566088763	chr2:145037337-145037338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575698459	chr2:145037338-145037339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539480463	chr2:145037397-145037398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139333249	chr2:145037411-145037412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542070127	chr2:145037447-145037448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570088944	chr2:145037483-145037484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368635507	chr2:145037497-145037498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556395475	chr2:145037563-145037564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574742249	chr2:145037581-145037582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372777852	chr2:145037644-145037645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535763467	chr2:145037652-145037653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553459605	chr2:145037692-145037693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571984902	chr2:145037696-145037697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545514592	chr2:145037722-145037723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564205441	chr2:145037734-145037735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145015000-145066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145025200-145037000	Weak transcription	Small Intestine	intestine
3	chr2:145026200-145037200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:145026200-145037400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:145026400-145036200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:145030200-145036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:145031200-145037600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:145032000-145045400	Weak transcription	Lung	lung
9	chr2:145032400-145057000	Weak transcription	Primary B cells from cord blood	blood
10	chr2:145032600-145041600	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:145032800-145038800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:145035400-145036200	Enhancers	Fetal Lung	lung
13	chr2:145035400-145036400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:145035400-145037400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:145035600-145036200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:145035600-145036200	Weak transcription	K562	blood
17	chr2:145035800-145037000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:145035800-145037600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:145035800-145048800	Weak transcription	Aorta	Aorta
20	chr2:145036000-145037200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:145036200-145036400	Enhancers	K562	blood
22	chr2:145036200-145036600	Weak transcription	Fetal Lung	lung
23	chr2:145036200-145037000	Enhancers	Brain Substantia Nigra	brain
24	chr2:145036200-145037400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:145036400-145037200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:145036400-145039000	Weak transcription	K562	blood
27	chr2:145036600-145037200	Enhancers	Fetal Lung	lung
28	chr2:145036800-145037400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:145036800-145037400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:145037000-145037200	Enhancers	Small Intestine	intestine
31	chr2:145037000-145037400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:145037000-145037800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:145037000-145039000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:145037200-145039800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:145037200-145046000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:145037400-145037600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:145037400-145037800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:145037400-145038800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:145037400-145039000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:145037400-145039200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:145037400-145041800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:145037600-145039000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:145037800-145038000	Enhancers	Brain Hippocampus Middle	brain
44	chr2:145037800-145038400	Active TSS	Fetal Brain Male	brain
45	chr2:145037800-145040600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:145038800-145039200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:145038800-145040400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:145039000-145039400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:145039000-145039400	Enhancers	Brain Substantia Nigra	brain
50	chr2:145039000-145039400	Enhancers	K562	blood

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