Variant report

Variant	esv3529301
Chromosome Location	chr12:64196186-64202455
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	ARID3A	chr12:64199611-64200153	HepG2	liver:	n/a	n/a
2	BCL3	chr12:64199689-64200306	A549	lung:	n/a	n/a
3	BCL3	chr12:64199571-64200386	A549	lung:	n/a	n/a
4	CEBPB	chr12:64199645-64200267	A549	lung:	n/a	n/a
5	CTCF	chr12:64196239-64196313	GM10248	blood:	n/a	n/a
6	CTCF	chr12:64195694-64196276	HCT-116	colon:	n/a	n/a
7	CTCF	chr12:64196300-64196450	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr12:64196240-64196390	HPF	lung:	n/a	n/a
9	CTCF	chr12:64195480-64196320	A549	lung:	n/a	n/a
10	CTCF	chr12:64195672-64196241	MCF-7	breast:	n/a	n/a
11	CTCF	chr12:64196180-64196330	NB4	blood:	n/a	n/a
12	CTCF	chr12:64195822-64196201	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:64195571-64196536	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr12:64195757-64196190	GM12878	blood:	n/a	n/a
15	CTCF	chr12:64195765-64196278	IMR90	lung:	n/a	n/a
16	CTCF	chr12:64196200-64196350	AG10803	skin:	n/a	n/a
17	CTCF	chr12:64197882-64197914	Kidney_OC	kidney:	n/a	n/a
18	EP300	chr12:64198406-64198944	A549	lung:	n/a	n/a
19	EP300	chr12:64199859-64200098	HepG2	liver:	n/a	n/a
20	EP300	chr12:64199861-64200143	HepG2	liver:	n/a	n/a
21	EP300	chr12:64199794-64200228	T-47D	breast:	n/a	n/a
22	EP300	chr12:64199606-64200425	A549	lung:	n/a	n/a
23	EP300	chr12:64198420-64198891	A549	lung:	n/a	n/a
24	EP300	chr12:64199643-64200374	T-47D	breast:	n/a	n/a
25	EP300	chr12:64199253-64200740	A549	lung:	n/a	n/a
26	ESR1	chr12:64199767-64200205	T-47D	breast:	n/a	n/a
27	FOSL2	chr12:64198562-64198830	A549	lung:	n/a	n/a
28	FOSL2	chr12:64198352-64199003	A549	lung:	n/a	n/a
29	FOSL2	chr12:64199410-64200492	A549	lung:	n/a	n/a
30	FOXA1	chr12:64199774-64200413	T-47D	breast:	n/a	chr12:64199950-64199965 chr12:64199983-64199998 chr12:64199817-64199829
31	FOXA1	chr12:64199629-64200269	HepG2	liver:	n/a	chr12:64199950-64199965 chr12:64199983-64199998 chr12:64199817-64199829
32	FOXA1	chr12:64199822-64200268	HepG2	liver:	n/a	chr12:64199950-64199965 chr12:64199983-64199998
33	FOXA1	chr12:64199650-64200414	T-47D	breast:	n/a	chr12:64199950-64199965 chr12:64199983-64199998 chr12:64199817-64199829
34	FOXA1	chr12:64199647-64200293	HepG2	liver:	n/a	chr12:64199950-64199965 chr12:64199983-64199998 chr12:64199817-64199829
35	FOXA1	chr12:64199752-64200287	HepG2	liver:	n/a	chr12:64199950-64199965 chr12:64199983-64199998 chr12:64199817-64199829
36	FOXA1	chr12:64198496-64198853	T-47D	breast:	n/a	n/a
37	FOXA2	chr12:64199662-64200558	A549	lung:	n/a	chr12:64199817-64199829
38	FOXA2	chr12:64198421-64198918	A549	lung:	n/a	n/a
39	FOXA2	chr12:64199516-64200517	A549	lung:	n/a	chr12:64199817-64199829
40	FOXA2	chr12:64199355-64200606	HepG2	liver:	n/a	chr12:64199817-64199829
41	FOXA2	chr12:64199844-64200340	HepG2	liver:	n/a	n/a
42	FOXP2	chr12:64202453-64202759	SK-N-MC	brain:	n/a	n/a
43	GATA3	chr12:64199740-64200290	T-47D	breast:	n/a	n/a
44	GATA3	chr12:64199617-64200405	A549	lung:	n/a	n/a
45	GATA3	chr12:64199509-64200493	A549	lung:	n/a	n/a
46	GATA3	chr12:64199808-64200386	T-47D	breast:	n/a	n/a
47	HNF4A	chr12:64199771-64200127	HepG2	liver:	n/a	n/a
48	HNF4A	chr12:64199892-64200220	HepG2	liver:	n/a	n/a
49	JUND	chr12:64199566-64200338	T-47D	breast:	n/a	n/a
50	JUND	chr12:64199817-64200360	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64172671..64176292-chr12:64191216..64196632,5	MCF-7	breast:
2	chr12:64178892..64180813-chr12:64194580..64197206,2	K562	blood:
3	chr12:64199105..64201033-chr12:64202954..64205602,2	K562	blood:
4	chr12:64172665..64175331-chr12:64194682..64197216,2	K562	blood:
5	chr12:64186627..64188743-chr12:64193793..64196445,3	K562	blood:
6	chr12:63545419..63546376-chr12:64195555..64196413,2	MCF-7	breast:
7	chr12:64172533..64176121-chr12:64194832..64198679,5	K562	blood:
8	chr12:63497370..63497928-chr12:64195474..64196377,2	MCF-7	breast:
9	chr12:64193892..64196710-chr12:64197339..64199038,3	K562	blood:
10	chr12:64172924..64175143-chr12:64198500..64202053,3	K562	blood:
11	chr12:64188729..64190948-chr12:64197247..64198958,2	K562	blood:
12	chr12:63813649..63814184-chr12:64195525..64196396,2	K562	blood:

Variant related genes	Relation type
TMEM5	TF binding region
ENSG00000118600	chromatin interactions
ENSG00000249753	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372706919	chr12:64196284-64196285	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs377078737	chr12:64196336-64196337	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs116323777	chr12:64196393-64196394	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527706413	chr12:64196402-64196403	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs113670193	chr12:64196422-64196423	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567958431	chr12:64196432-64196433	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543832468	chr12:64196434-64196435	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs536580809	chr12:64196439-64196440	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562914250	chr12:64196446-64196447	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550391556	chr12:64196519-64196520	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs113706160	chr12:64196520-64196521	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570287847	chr12:64196644-64196645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs71434035	chr12:64196660-64196661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148305393	chr12:64196675-64196676	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558703639	chr12:64196717-64196718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113527180	chr12:64196733-64196734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571919983	chr12:64196768-64196769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555930671	chr12:64196783-64196784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560531166	chr12:64196805-64196806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534616543	chr12:64196810-64196811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370197478	chr12:64196811-64196812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554530772	chr12:64196825-64196826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548659414	chr12:64196834-64196835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531723679	chr12:64196937-64196938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12828273	chr12:64196959-64196960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34185708	chr12:64196962-64196963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568499947	chr12:64197026-64197027	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374001941	chr12:64197049-64197050	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543360339	chr12:64197106-64197107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149857908	chr12:64197130-64197131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563121522	chr12:64197150-64197151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115687113	chr12:64197246-64197247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545070640	chr12:64197269-64197270	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12308534	chr12:64197295-64197296	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs76395980	chr12:64197322-64197323	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs574433022	chr12:64197339-64197340	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs527752473	chr12:64197444-64197445	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs546487474	chr12:64197499-64197500	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs547761061	chr12:64197501-64197502	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141094427	chr12:64197534-64197535	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375820813	chr12:64197539-64197540	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs12829705	chr12:64197549-64197550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs7315060	chr12:64197560-64197561	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs530393866	chr12:64197561-64197562	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561865394	chr12:64197604-64197605	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs570227395	chr12:64197605-64197606	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs539260659	chr12:64197607-64197608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs551942151	chr12:64197660-64197661	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12426316	chr12:64197739-64197740	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534460482	chr12:64197777-64197778	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64174400-64200200	Weak transcription	Spleen	Spleen
2	chr12:64174400-64201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:64174400-64203400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:64174400-64204400	Weak transcription	Small Intestine	intestine
5	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:64174600-64199400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:64174600-64200200	Weak transcription	HSMMtube	muscle
8	chr12:64174600-64200600	Weak transcription	Thymus	Thymus
9	chr12:64174600-64201000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:64174600-64204400	Weak transcription	Colonic Mucosa	Colon
11	chr12:64174800-64199200	Weak transcription	Stomach Mucosa	stomach
12	chr12:64174800-64208000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:64174800-64208000	Weak transcription	Fetal Brain Male	brain
14	chr12:64174800-64208600	Weak transcription	Fetal Brain Female	brain
15	chr12:64175000-64200200	Weak transcription	Brain Anterior Caudate	brain
16	chr12:64175200-64199400	Weak transcription	NHLF	lung
17	chr12:64175200-64202400	Weak transcription	Fetal Heart	heart
18	chr12:64175200-64205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:64175400-64200800	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:64175400-64201800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:64175400-64202600	Weak transcription	Hela-S3	cervix
22	chr12:64175400-64202800	Weak transcription	HUVEC	blood vessel
23	chr12:64175400-64204400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:64175600-64208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:64178000-64209800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:64178400-64204000	Weak transcription	HMEC	breast
27	chr12:64178600-64208400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:64178800-64201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:64181000-64200600	Weak transcription	Gastric	stomach
30	chr12:64181000-64204400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:64181200-64204400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:64181200-64205400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:64181800-64201000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:64181800-64201600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:64182000-64208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:64182800-64205200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:64183000-64198200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:64183400-64199000	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:64184200-64199200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:64184200-64202000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:64184400-64199200	Weak transcription	Fetal Thymus	thymus
42	chr12:64184400-64199200	Weak transcription	GM12878-XiMat	blood
43	chr12:64184400-64199200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:64184400-64203600	Weak transcription	K562	blood
45	chr12:64184400-64204200	Weak transcription	NHEK	skin
46	chr12:64184600-64199600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:64184600-64200600	Weak transcription	Lung	lung
48	chr12:64184600-64202000	Weak transcription	Fetal Intestine Large	intestine
49	chr12:64184600-64204400	Weak transcription	Esophagus	oesophagus
50	chr12:64184600-64205800	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links