Variant report

Variant	esv3356734
Chromosome Location	chr1:113181854-113184402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:113183285-113183475	HepG2	liver:	n/a	chr1:113183422-113183433
2	GATA3	chr1:113181805-113181910	SH-SY5Y	brain:	n/a	n/a
3	HEY1	chr1:113183290-113183667	K562	blood:	n/a	n/a
4	NR2F2	chr1:113183356-113183799	K562	blood:	n/a	n/a
5	POLR2A	chr1:113183301-113183562	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:113183118-113183445	GM12892	blood:	n/a	n/a
7	POLR2A	chr1:113183240-113183601	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113161415..113164190-chr1:113180475..113183535,3	MCF-7	breast:
2	chr1:113179962..113182760-chr1:113186932..113189454,2	MCF-7	breast:
3	chr1:113183921..113186254-chr1:113229181..113230777,2	MCF-7	breast:
4	chr1:113184100..113185954-chr1:113242899..113245081,2	K562	blood:
5	chr1:113183283..113185381-chr1:113244740..113247686,2	MCF-7	breast:
6	chr1:113182620..113185434-chr1:113215865..113218474,2	MCF-7	breast:
7	chr1:113162254..113164649-chr1:113184211..113186438,2	K562	blood:
8	chr1:113180328..113183198-chr1:113255526..113257855,2	MCF-7	breast:
9	chr1:113181897..113185453-chr1:113249395..113251189,3	MCF-7	breast:
10	chr1:113162254..113164649-chr1:113184211..113186438,3	K562	blood:
11	chr1:113178255..113183299-chr1:113188318..113192161,4	K562	blood:
12	chr1:113183818..113187593-chr1:113245364..113249347,3	K562	blood:
13	chr1:113180385..113183307-chr1:113188494..113191226,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-70P	TF binding region
ENSG00000116489	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000155363	chromatin interactions
ENSG00000155367	chromatin interactions
ENSG00000155366	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185161297	chr1:113181894-113181895	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs537386505	chr1:113181903-113181904	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs190408466	chr1:113181908-113181909	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs182669866	chr1:113181980-113181981	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs371237242	chr1:113181999-113182000	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs567914572	chr1:113182009-113182010	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs556232477	chr1:113182062-113182063	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs536849822	chr1:113182065-113182066	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs553571159	chr1:113182073-113182074	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs572874193	chr1:113182120-113182121	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs187614016	chr1:113182121-113182122	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs528961046	chr1:113182166-113182167	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs375434716	chr1:113182192-113182193	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs558304213	chr1:113182297-113182298	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs191520333	chr1:113182305-113182306	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs202231640	chr1:113182321-113182322	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs550585328	chr1:113182357-113182358	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs544145921	chr1:113182364-113182365	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs554445824	chr1:113182394-113182395	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs574350616	chr1:113182397-113182398	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs540051303	chr1:113182398-113182399	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs559884341	chr1:113182425-113182426	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs528603529	chr1:113182471-113182472	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs574925127	chr1:113182486-113182487	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs372992575	chr1:113182487-113182488	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs12137390	chr1:113182504-113182505	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs373744660	chr1:113182553-113182554	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs376743092	chr1:113182602-113182603	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs545477553	chr1:113182777-113182778	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs199970377	chr1:113182779-113182780	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs112385450	chr1:113182815-113182816	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs539594053	chr1:113182909-113182910	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs9988439	chr1:113182921-113182922	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs551548534	chr1:113182954-113182955	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs569791079	chr1:113183056-113183057	Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs368847117	chr1:113183072-113183073	Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs550956113	chr1:113183113-113183114	Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs567975652	chr1:113183123-113183124	Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs530389986	chr1:113183153-113183154	Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs561165146	chr1:113183185-113183186	Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs547244783	chr1:113183211-113183212	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs34881817	chr1:113183230-113183231	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs567039909	chr1:113183235-113183236	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs538394659	chr1:113183249-113183250	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs558615143	chr1:113183284-113183285	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs372829016	chr1:113183288-113183289	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs555400615	chr1:113183309-113183310	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs568812511	chr1:113183333-113183334	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs537456524	chr1:113183364-113183365	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs554106562	chr1:113183365-113183366	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113163600-113200000	Weak transcription	Fetal Kidney	kidney
2	chr1:113163800-113200200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:113163800-113200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:113164000-113190000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:113164200-113204200	Weak transcription	Fetal Brain Male	brain
6	chr1:113168800-113187200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:113168800-113189800	Weak transcription	Fetal Lung	lung
8	chr1:113168800-113191000	Weak transcription	Ovary	ovary
9	chr1:113168800-113199800	Weak transcription	Esophagus	oesophagus
10	chr1:113168800-113215800	Weak transcription	Fetal Heart	heart
11	chr1:113169000-113186400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:113169000-113189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:113169200-113188400	Weak transcription	Left Ventricle	heart
14	chr1:113169800-113188800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:113172600-113191400	Weak transcription	Brain Germinal Matrix	brain
16	chr1:113173400-113186600	Weak transcription	Thymus	Thymus
17	chr1:113173400-113186800	Weak transcription	Fetal Stomach	stomach
18	chr1:113174400-113186000	Weak transcription	Fetal Thymus	thymus
19	chr1:113174400-113190000	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:113175200-113188800	Weak transcription	Gastric	stomach
21	chr1:113175200-113189800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:113175200-113199800	Weak transcription	Psoas Muscle	Psoas
23	chr1:113175200-113200000	Weak transcription	Right Atrium	heart
24	chr1:113176000-113199200	Weak transcription	Fetal Brain Female	brain
25	chr1:113176200-113185000	Weak transcription	Dnd41	blood
26	chr1:113178200-113191400	Weak transcription	Fetal Intestine Large	intestine
27	chr1:113178400-113186400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:113179000-113215600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:113179400-113185800	Weak transcription	Primary T cells from cord blood	blood
30	chr1:113179400-113191400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:113179600-113197400	Weak transcription	Colonic Mucosa	Colon
32	chr1:113179800-113186200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:113179800-113186400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:113179800-113187400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:113179800-113189800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:113179800-113191400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:113180000-113185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:113180000-113191400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:113180000-113193800	Weak transcription	Stomach Mucosa	stomach
40	chr1:113180000-113216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:113180200-113184000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:113180200-113186800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:113180200-113187400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:113180200-113187600	Weak transcription	Small Intestine	intestine
45	chr1:113180200-113189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:113180200-113190000	Weak transcription	Liver	Liver
47	chr1:113180200-113190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:113180200-113190400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:113180200-113191600	Weak transcription	NHLF	lung
50	chr1:113180200-113199800	Weak transcription	Spleen	Spleen

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