Variant report

Variant	esv3515660
Chromosome Location	chr12:45746761-45747772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45734366..45736886-chr12:45747224..45749604,2	K562	blood:
2	chr12:45680098..45682911-chr12:45746995..45748608,2	MCF-7	breast:
3	chr12:45608497..45610425-chr12:45745264..45746860,2	MCF-7	breast:
4	chr12:45685556..45688116-chr12:45745612..45748267,2	K562	blood:

Variant related genes	Relation type
ENSG00000177119	chromatin interactions
ENSG00000134297	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556693604	chr12:45746804-45746805	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531104063	chr12:45746807-45746808	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs367991829	chr12:45746810-45746811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574867672	chr12:45746853-45746854	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533316195	chr12:45746871-45746872	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189588867	chr12:45746876-45746877	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553849061	chr12:45746877-45746878	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572405753	chr12:45746890-45746891	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541048734	chr12:45746989-45746990	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs180780473	chr12:45747020-45747021	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564079896	chr12:45747030-45747031	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184425924	chr12:45747031-45747032	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149880596	chr12:45747085-45747086	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs60831882	chr12:45747130-45747131	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561430895	chr12:45747151-45747152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189695118	chr12:45747198-45747199	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs117798352	chr12:45747214-45747215	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181294252	chr12:45747270-45747271	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532952413	chr12:45747289-45747290	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552897325	chr12:45747297-45747298	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186766560	chr12:45747356-45747357	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531245312	chr12:45747385-45747386	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538422301	chr12:45747450-45747451	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191552308	chr12:45747463-45747464	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs56408748	chr12:45747526-45747527	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368346138	chr12:45747545-45747546	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554247969	chr12:45747566-45747567	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572337845	chr12:45747686-45747687	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181653061	chr12:45747738-45747739	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45734600-45747600	Weak transcription	Stomach Mucosa	stomach
6	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:45737400-45748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:45739200-45752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:45740000-45747800	Strong transcription	Fetal Thymus	thymus
12	chr12:45740400-45747200	Strong transcription	Fetal Intestine Large	intestine
13	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:45740800-45748200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:45741000-45752000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:45741400-45755400	Weak transcription	Brain Anterior Caudate	brain
18	chr12:45741800-45746800	Strong transcription	Fetal Lung	lung
19	chr12:45741800-45747000	Strong transcription	Adipose Nuclei	Adipose
20	chr12:45742000-45746800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr12:45742200-45747400	Weak transcription	Small Intestine	intestine
22	chr12:45742600-45750600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:45744200-45747800	Weak transcription	HSMMtube	muscle
25	chr12:45744200-45750800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:45744200-45751000	Weak transcription	Right Atrium	heart
27	chr12:45744800-45747400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:45744800-45749400	Weak transcription	K562	blood
29	chr12:45744800-45750200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
31	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:45745000-45746800	Enhancers	Ovary	ovary
33	chr12:45745000-45747400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:45745000-45748000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:45745000-45749200	Weak transcription	Aorta	Aorta
36	chr12:45745000-45751000	Weak transcription	Fetal Heart	heart
37	chr12:45745000-45751200	Weak transcription	NHDF-Ad	bronchial
38	chr12:45745000-45751800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:45745000-45753800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:45745000-45754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
42	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
43	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
45	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:45745000-45779800	Weak transcription	Gastric	stomach
47	chr12:45745200-45747400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:45745200-45747600	Weak transcription	NH-A	brain
49	chr12:45745200-45747800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:45745200-45748800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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