Variant report

Variant	esv1215925
Chromosome Location	chr12:66527651-66529892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr12:66529497-66529795	K562	blood:	n/a	n/a
2	NR2F2	chr12:66529377-66529833	K562	blood:	n/a	n/a
3	PAX5	chr12:66527766-66528075	GM12878	blood:	n/a	n/a
4	PAX5	chr12:66527781-66528051	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:66527879-66528115	A549	lung:	n/a	n/a
6	ZNF384	chr12:66529888-66530042	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:66528416-66528466	GM12891	blood:	n/a
2	chr12:66528416-66528466	K562	blood:	n/a
3	chr12:66528416-66528466	ProgFib	skin:	n/a
4	chr12:66528416-66528466	HEEpiC	esophagus:	n/a
5	chr12:66528416-66528466	HRPEpiC	eye:	n/a
6	chr12:66528416-66528466	SKMC	muscle:	n/a
7	chr12:66528416-66528466	PFSK-1	brain:	n/a
8	chr12:66528416-66528466	Jurkat	blood:	n/a
9	chr12:66528416-66528466	U87	brain:	n/a
10	chr12:66528416-66528466	AG09309	skin:	n/a
11	chr12:66528416-66528466	MCF-7	breast:	n/a
12	chr12:66528416-66528466	AoSMC	blood vessel:	n/a
13	chr12:66528416-66528466	SK-N-SH	brain:	n/a
14	chr12:66528416-66528466	HAEpiC	amniotic membrane:	n/a
15	chr12:66528416-66528466	Caco-2	colon:	n/a
16	chr12:66528416-66528466	IMR90	lung:	fetal
17	chr12:66528416-66528466	HIPEpiC	eye:	n/a
18	chr12:66528416-66528466	NT2-D1	testis:	n/a
19	chr12:66528416-66528466	AG10803	skin:	n/a
20	chr12:66528416-66528466	H1-hESC	embryonic stem cell:	embryo
21	chr12:66528416-66528466	GM06990	blood:	n/a
22	chr12:66528416-66528466	NHBE	bronchial:	n/a
23	chr12:66528416-66528466	NHDF-neo	bronchial:	n/a
24	chr12:66528416-66528466	SK-N-MC	brain:	n/a
25	chr12:66528416-66528466	AG09319	gingival:	n/a
26	chr12:66528416-66528466	HPAEpiC	pulmonary alveolar:	n/a
27	chr12:66528416-66528466	HCF	heart:	n/a
28	chr12:66528416-66528466	GM12878	blood:	n/a
29	chr12:66528416-66528466	HRCEpiC	kidney:	n/a
30	chr12:66528416-66528466	T-47D	breast:	n/a
31	chr12:66528416-66528466	BJ	skin:	n/a
32	chr12:66528416-66528466	LNCaP	prostate:	n/a
33	chr12:66528416-66528466	HUVEC	blood vessel:	n/a
34	chr12:66528416-66528466	ECC-1	luminal epithelium:	n/a
35	chr12:66528416-66528466	GM19239	blood:	n/a
36	chr12:66528416-66528466	NH-A	brain:	n/a
37	chr12:66528416-66528466	HMEC	breast:	n/a
38	chr12:66528416-66528466	HCM	heart:	n/a
39	chr12:66528416-66528466	HepG2	liver:	n/a
40	chr12:66528416-66528466	HEK293	kidney:	embryo
41	chr12:66528416-66528466	HCT-116	colon:	n/a
42	chr12:66528416-66528466	AG04449	skin:	fetal
43	chr12:66528416-66528466	HCPEpiC	choroid plexus:	n/a
44	chr12:66528416-66528466	HRE	kidney:	n/a
45	chr12:66528416-66528466	GM12892	blood:	n/a
46	chr12:66528416-66528466	Hepatocyte	liver:	n/a
47	chr12:66528416-66528466	A549	lung:	n/a
48	chr12:66528416-66528466	HNPCEpiC	eye:	n/a
49	chr12:66528416-66528466	HL-60	blood:	n/a
50	chr12:66528416-66528466	SK-N-SH_RA	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:66524156..66526085-chr12:66529096..66530644,2	K562	blood:
2	chr12:66523605..66525489-chr12:66527409..66530193,2	MCF-7	breast:
3	chr12:66526618..66528298-chr12:66533657..66535201,2	MCF-7	breast:
4	chr12:66526136..66528056-chr12:66612533..66614066,2	K562	blood:
5	chr12:66524156..66526872-chr12:66529144..66534313,4	K562	blood:
6	chr12:66529650..66532056-chr12:66539532..66541211,2	MCF-7	breast:

No data

Variant related genes	Relation type
LLPH	TF binding region
LLPH	CpG island
ENSG00000239335	chromatin interactions
ENSG00000139233	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201162368	chr12:66527652-66527653	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs141161083	chr12:66527653-66527654	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs202085796	chr12:66527654-66527655	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200010372	chr12:66527656-66527657	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372970518	chr12:66527847-66527848	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs11838116	chr12:66527888-66527889	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs574323446	chr12:66527893-66527894	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs11838128	chr12:66527932-66527933	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs184741914	chr12:66527935-66527936	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571933017	chr12:66527937-66527938	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562973526	chr12:66527964-66527965	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs540684267	chr12:66527983-66527984	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs11838150	chr12:66528053-66528054	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs11838151	chr12:66528054-66528055	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs376113923	chr12:66528115-66528116	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs531810513	chr12:66528118-66528119	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs61927061	chr12:66528158-66528159	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369808005	chr12:66528185-66528186	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373350939	chr12:66528399-66528400	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs377463559	chr12:66528584-66528585	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551500637	chr12:66528769-66528770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111827997	chr12:66528779-66528780	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs565313838	chr12:66528846-66528847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs527665037	chr12:66528850-66528851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540953761	chr12:66529066-66529067	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547716441	chr12:66529068-66529069	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs567215931	chr12:66529085-66529086	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536052733	chr12:66529108-66529109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549520279	chr12:66529119-66529120	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569436368	chr12:66529127-66529128	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538696074	chr12:66529141-66529142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558357167	chr12:66529207-66529208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572052026	chr12:66529369-66529370	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373440455	chr12:66529846-66529847	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375649053	chr12:66529850-66529851	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370296260	chr12:66529851-66529852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs59771071	chr12:66529876-66529877	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373417782	chr12:66529877-66529878	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs534311286	chr12:66529884-66529885	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
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
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66525000-66531200	Weak transcription	Lung	lung
2	chr12:66525000-66533200	Weak transcription	Gastric	stomach
3	chr12:66525200-66530000	Weak transcription	Placenta	Placenta
4	chr12:66525200-66533200	Weak transcription	Esophagus	oesophagus
5	chr12:66525200-66533200	Weak transcription	Pancreas	Pancrea
6	chr12:66525200-66534400	Weak transcription	Small Intestine	intestine
7	chr12:66525400-66530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:66525400-66530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:66525400-66530000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:66525400-66530000	Weak transcription	Brain Germinal Matrix	brain
11	chr12:66525400-66530000	Weak transcription	Fetal Intestine Large	intestine
12	chr12:66525400-66530000	Weak transcription	Fetal Kidney	kidney
13	chr12:66525400-66530000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:66525400-66530200	Weak transcription	Ovary	ovary
15	chr12:66525400-66533200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:66525400-66533200	Weak transcription	Spleen	Spleen
17	chr12:66525400-66533400	Weak transcription	Aorta	Aorta
18	chr12:66525400-66533400	Weak transcription	Fetal Brain Male	brain
19	chr12:66525400-66534400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:66525600-66529800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:66525600-66530000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:66525600-66530000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:66525600-66530000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:66525600-66530000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:66525600-66530000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:66525600-66530000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:66525600-66530000	Weak transcription	Adipose Nuclei	Adipose
29	chr12:66525600-66530000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:66525600-66530000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:66525600-66530000	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:66525600-66530000	Weak transcription	Fetal Brain Female	brain
33	chr12:66525600-66530000	Weak transcription	Fetal Thymus	thymus
34	chr12:66525600-66530000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:66525600-66530000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:66525600-66531800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:66525600-66533200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:66525600-66533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:66525600-66533400	Weak transcription	Brain Substantia Nigra	brain
40	chr12:66525600-66533600	Weak transcription	Right Ventricle	heart
41	chr12:66525600-66536000	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:66525600-66536400	Weak transcription	Stomach Mucosa	stomach
43	chr12:66525600-66549000	Weak transcription	Colonic Mucosa	Colon
44	chr12:66525600-66552400	Weak transcription	Brain Angular Gyrus	brain
45	chr12:66525600-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:66525800-66529800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:66525800-66530000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:66525800-66532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:66525800-66533400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:66526000-66530000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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