Variant report

Variant	esv3335894
Chromosome Location	chr1:46206615-46208613
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46205176..46207911-chr1:46209798..46211583,2	K562	blood:
2	chr1:46205056..46207892-chr1:46214657..46217375,3	MCF-7	breast:
3	chr1:46208187..46211922-chr1:46213576..46216674,3	MCF-7	breast:
4	chr1:46072512..46075049-chr1:46205211..46207779,2	K562	blood:
5	chr1:46202156..46204427-chr1:46206183..46208440,2	K562	blood:
6	chr1:46205421..46208484-chr1:46212688..46215517,5	K562	blood:
7	chr1:46205176..46209135-chr1:46209626..46211583,3	K562	blood:
8	chr1:46207000..46208587-chr1:46214039..46216742,2	K562	blood:
9	chr1:46203892..46206749-chr1:46225405..46227544,2	K562	blood:
10	chr1:46151328..46153921-chr1:46205484..46208210,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197429	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000159596	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368028796	chr1:46206630-46206631	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs149339831	chr1:46206636-46206637	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs139923292	chr1:46206642-46206643	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs376546286	chr1:46206702-46206703	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs147228513	chr1:46206715-46206716	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs142176810	chr1:46206747-46206748	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs372385604	chr1:46206751-46206752	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs139096473	chr1:46206760-46206761	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs375935974	chr1:46206761-46206762	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs369829010	chr1:46206771-46206772	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs200067460	chr1:46206797-46206798	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs549883180	chr1:46206814-46206815	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs546862090	chr1:46206834-46206835	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs559698247	chr1:46206845-46206846	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs146422435	chr1:46206848-46206849	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs183447457	chr1:46206877-46206878	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs145881674	chr1:46206878-46206879	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs186680133	chr1:46206898-46206899	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs372642930	chr1:46206905-46206906	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs149179275	chr1:46206982-46206983	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs141321107	chr1:46206992-46206993	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs191063410	chr1:46207014-46207015	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs201122283	chr1:46207022-46207023	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs538815815	chr1:46207050-46207051	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs530901038	chr1:46207094-46207095	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs554712291	chr1:46207140-46207141	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs182727960	chr1:46207169-46207170	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs372133029	chr1:46207170-46207171	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs138592763	chr1:46207205-46207206	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs188245223	chr1:46207218-46207219	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs546855791	chr1:46207231-46207232	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs376389856	chr1:46207263-46207264	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs375338596	chr1:46207295-46207296	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs57797396	chr1:46207311-46207312	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs376776560	chr1:46207426-46207427	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs545639958	chr1:46207445-46207446	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs571586683	chr1:46207450-46207451	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs113784253	chr1:46207496-46207497	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs539365598	chr1:46207513-46207514	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs559011648	chr1:46207534-46207535	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs368054181	chr1:46207566-46207567	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs557458132	chr1:46207595-46207596	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs569641381	chr1:46207596-46207597	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs536699168	chr1:46207597-46207598	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs201886961	chr1:46207598-46207599	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs115720526	chr1:46207602-46207603	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs541208856	chr1:46207676-46207677	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs553234738	chr1:46207712-46207713	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs28568986	chr1:46207743-46207744	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs375559235	chr1:46207771-46207772	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46155000-46215800	Weak transcription	Small Intestine	intestine
2	chr1:46155800-46215600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:46157400-46209800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:46160800-46215400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:46163600-46215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:46165600-46207000	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:46174600-46215600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:46174600-46215600	Weak transcription	Esophagus	oesophagus
9	chr1:46177800-46215600	Weak transcription	Gastric	stomach
10	chr1:46178000-46209200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:46178000-46209800	Weak transcription	Fetal Brain Male	brain
12	chr1:46178000-46209800	Weak transcription	Lung	lung
13	chr1:46178000-46215600	Weak transcription	Aorta	Aorta
14	chr1:46179600-46209000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:46180400-46215600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:46181800-46215600	Weak transcription	Fetal Brain Female	brain
17	chr1:46182200-46215600	Weak transcription	Left Ventricle	heart
18	chr1:46187200-46206800	Weak transcription	Fetal Lung	lung
19	chr1:46189200-46214800	Weak transcription	NHDF-Ad	bronchial
20	chr1:46189400-46207600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:46189400-46215400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:46193000-46209200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:46193400-46207600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:46193400-46208000	Weak transcription	Thymus	Thymus
25	chr1:46193600-46207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:46193600-46215400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:46193600-46215400	Weak transcription	HSMMtube	muscle
28	chr1:46193800-46207600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:46194000-46208400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:46194000-46214200	Weak transcription	Pancreas	Pancrea
31	chr1:46194000-46214800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:46194600-46207800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:46194600-46208200	Weak transcription	Fetal Stomach	stomach
34	chr1:46194600-46209200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:46194600-46209200	Weak transcription	Ovary	ovary
36	chr1:46195000-46206800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:46196400-46206800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:46196800-46215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:46196800-46215600	Weak transcription	NHEK	skin
40	chr1:46197000-46214800	Weak transcription	GM12878-XiMat	blood
41	chr1:46198000-46214200	Weak transcription	Right Ventricle	heart
42	chr1:46198000-46215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:46201400-46209000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:46203400-46215600	Weak transcription	Spleen	Spleen
45	chr1:46203600-46207400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:46203600-46214800	Weak transcription	NH-A	brain
47	chr1:46204200-46215600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:46204800-46209200	Weak transcription	Colonic Mucosa	Colon
49	chr1:46204800-46214800	Weak transcription	Psoas Muscle	Psoas
50	chr1:46205200-46206800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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