Variant report

Variant	esv3411271
Chromosome Location	chr1:45281240-45283588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
2	chr1:45246681..45259677-chr1:45281336..45290057,25	MCF-7	breast:
3	chr1:45282552..45287322-chr1:45800975..45809178,15	K562	blood:
4	chr1:45283391..45288738-chr1:46048072..46051277,6	K562	blood:
5	chr1:45281654..45283302-chr1:45765117..45767703,2	K562	blood:
6	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
7	chr1:45239959..45246724-chr1:45282430..45287057,13	MCF-7	breast:
8	chr1:45265198..45265799-chr1:45280406..45281268,2	MCF-7	breast:
9	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
10	chr1:45282724..45285089-chr1:70684930..70687197,2	K562	blood:
11	chr1:45283389..45288095-chr1:45474959..45480313,6	MCF-7	breast:
12	chr1:45282917..45288387-chr1:45449365..45456835,12	K562	blood:
13	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
14	chr1:45282609..45288514-chr1:45767803..45773154,13	K562	blood:
15	chr1:45282552..45286546-chr1:45802804..45805880,5	K562	blood:
16	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
17	chr1:45283441..45287322-chr1:45806283..45809735,5	K562	blood:
18	chr1:45282320..45290015-chr1:45470338..45482903,45	K562	blood:
19	chr1:45282334..45285552-chr1:45442428..45444971,3	K562	blood:
20	chr1:45282564..45285374-chr1:45331380..45332950,2	K562	blood:
21	chr1:45279599..45282542-chr1:45767964..45769557,2	K562	blood:
22	chr1:45183794..45190315-chr1:45281186..45287888,32	MCF-7	breast:
23	chr1:45193443..45200768-chr1:45280884..45289784,25	MCF-7	breast:
24	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
25	chr1:45280595..45282374-chr1:45476299..45478541,2	MCF-7	breast:
26	chr1:45239429..45243402-chr1:45282541..45287001,15	MCF-7	breast:
27	chr1:45283510..45287262-chr1:45964108..45968951,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTBD19-1	chr1:45282505-45282510	XLOC_000166
2	lnc-BTBD19-1	chr1:45282569-45283445	XLOC_000166

No data

Variant related genes	Relation type
ENSG00000126088	chromatin interactions
ENSG00000200913	chromatin interactions
ENSG00000142959	chromatin interactions
ENSG00000228988	chromatin interactions
ENSG00000202031	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000070785	chromatin interactions
ENSG00000198520	chromatin interactions
ENSG00000132763	chromatin interactions
ENSG00000232369	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000207421	chromatin interactions
ENSG00000234093	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000116754	chromatin interactions
ENSG00000236624	chromatin interactions
ENSG00000264294	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000142945	chromatin interactions
ENSG00000142937	chromatin interactions
RAB5A	miRNA target sites
SMAD4	miRNA target sites

Extended variants
information (count: 113 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112309146	chr1:45281246-45281247	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs375079087	chr1:45281259-45281260	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs567553987	chr1:45281287-45281288	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs34533218	chr1:45281289-45281290	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs397980062	chr1:45281290-45281291	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs540310936	chr1:45281296-45281297	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs577354931	chr1:45281309-45281310	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs553328388	chr1:45281313-45281314	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs533525068	chr1:45281401-45281402	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs111979805	chr1:45281403-45281404	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs144417122	chr1:45281408-45281409	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs61383086	chr1:45281409-45281410	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs142991970	chr1:45281415-45281416	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs573470996	chr1:45281428-45281429	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs542165850	chr1:45281452-45281453	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs187287608	chr1:45281454-45281455	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs538834924	chr1:45281483-45281484	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs35343809	chr1:45281495-45281496	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs113843140	chr1:45281519-45281520	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs544681614	chr1:45281524-45281525	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs575341501	chr1:45281536-45281537	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs564555711	chr1:45281540-45281541	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs533493508	chr1:45281541-45281542	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs547013971	chr1:45281571-45281572	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs560295146	chr1:45281629-45281630	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs190694381	chr1:45281716-45281717	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs549030918	chr1:45281753-45281754	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs11806832	chr1:45281768-45281769	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs537635877	chr1:45281849-45281850	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs150925059	chr1:45281863-45281864	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs571008900	chr1:45281892-45281893	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs533684178	chr1:45281916-45281917	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs11805354	chr1:45281945-45281946	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs553684547	chr1:45281956-45281957	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs34553665	chr1:45281984-45281985	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs371122433	chr1:45282000-45282001	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs67834322	chr1:45282001-45282002	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs573557919	chr1:45282029-45282030	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs376394993	chr1:45282030-45282031	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs375495252	chr1:45282031-45282032	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs536116242	chr1:45282033-45282034	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs368458220	chr1:45282048-45282049	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs71307637	chr1:45282053-45282054	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs555798998	chr1:45282062-45282063	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs576040151	chr1:45282084-45282085	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs544797844	chr1:45282085-45282086	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs202175110	chr1:45282097-45282098	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs558436922	chr1:45282106-45282107	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs578138209	chr1:45282109-45282110	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs12409733	chr1:45282138-45282139	Weak transcription Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45275800-45281600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:45277800-45282000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:45278000-45284800	Weak transcription	Hela-S3	cervix
4	chr1:45278200-45284800	Weak transcription	K562	blood
5	chr1:45279400-45284800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:45279400-45285000	Weak transcription	Fetal Heart	heart
7	chr1:45279600-45281800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:45279600-45281800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:45279600-45284800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:45279800-45281600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:45279800-45281800	Genic enhancers	Placenta	Placenta
12	chr1:45279800-45283200	Weak transcription	Gastric	stomach
13	chr1:45279800-45283400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:45279800-45284000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:45279800-45284800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:45279800-45284800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:45279800-45284800	Weak transcription	Aorta	Aorta
18	chr1:45279800-45284800	Weak transcription	Brain Angular Gyrus	brain
19	chr1:45279800-45284800	Weak transcription	Pancreas	Pancrea
20	chr1:45279800-45284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:45279800-45285000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:45279800-45285000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:45279800-45285000	Weak transcription	Ovary	ovary
24	chr1:45279800-45285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:45279800-45285800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:45280000-45281600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:45280000-45281600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:45280000-45281800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:45280000-45283400	Weak transcription	Fetal Brain Male	brain
30	chr1:45280000-45283800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:45280000-45284000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:45280000-45284800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:45280000-45284800	Weak transcription	Primary T cells from cord blood	blood
34	chr1:45280000-45284800	Weak transcription	Adipose Nuclei	Adipose
35	chr1:45280000-45284800	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:45280000-45284800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:45280000-45285000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:45280200-45281600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:45280200-45281600	Genic enhancers	Fetal Intestine Small	intestine
40	chr1:45280200-45281800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:45280200-45283000	Weak transcription	Dnd41	blood
42	chr1:45280200-45283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:45280200-45284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:45280200-45284800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:45280200-45284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:45280200-45284800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:45280200-45284800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:45280200-45284800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:45280200-45284800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:45280200-45285000	Weak transcription	Brain Inferior Temporal Lobe	brain

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