Variant report

Variant	nsv899026
Chromosome Location	chr12:40279428-40302581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40280351..40282903-chr12:40497485..40499923,2	K562	blood:
2	chr12:40301225..40304048-chr12:40312812..40315442,2	K562	blood:

Variant related genes	Relation type
ENSG00000151229	chromatin interactions

Extended variants
information (count: 793 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11174134	chr12:40279428-40279429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140336788	chr12:40279517-40279518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144198513	chr12:40279535-40279536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183611701	chr12:40279636-40279637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566101028	chr12:40279651-40279652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539822383	chr12:40279692-40279693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558156066	chr12:40279700-40279701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570180188	chr12:40279858-40279859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1540697	chr12:40279880-40279881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187963666	chr12:40279883-40279884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569588502	chr12:40279884-40279885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538168568	chr12:40279949-40279950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2029971	chr12:40279952-40279953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560198632	chr12:40279969-40279970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372079770	chr12:40279970-40279971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191714661	chr12:40279993-40279994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147758999	chr12:40280013-40280014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545407694	chr12:40280038-40280039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563701251	chr12:40280078-40280079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531312102	chr12:40280090-40280091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141102947	chr12:40280091-40280092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374434359	chr12:40280109-40280110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376421587	chr12:40280112-40280113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111980342	chr12:40280147-40280148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150262185	chr12:40280175-40280176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556784974	chr12:40280243-40280244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565858198	chr12:40280267-40280268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533229919	chr12:40280276-40280277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551802244	chr12:40280319-40280320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570061973	chr12:40280340-40280341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537580892	chr12:40280362-40280363	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145825178	chr12:40280443-40280444	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2029970	chr12:40280456-40280457	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534926884	chr12:40280482-40280483	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553494654	chr12:40280504-40280505	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs207472847	chr12:40280520-40280521	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184742126	chr12:40280564-40280565	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76103788	chr12:40280570-40280571	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557381330	chr12:40280600-40280601	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375932628	chr12:40280666-40280667	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575625468	chr12:40280684-40280685	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543540889	chr12:40280695-40280696	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2173133	chr12:40280708-40280709	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573653676	chr12:40280808-40280809	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540884658	chr12:40280828-40280829	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559549907	chr12:40280852-40280853	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533311784	chr12:40280876-40280877	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551691516	chr12:40280896-40280897	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113370774	chr12:40280962-40280963	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567942493	chr12:40280981-40280982	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40262600-40280000	Weak transcription	Small Intestine	intestine
2	chr12:40273000-40286000	Weak transcription	Pancreas	Pancrea
3	chr12:40273800-40281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:40274000-40280200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:40274000-40281000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:40278400-40282000	Enhancers	Brain Germinal Matrix	brain
7	chr12:40279800-40280600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:40280000-40280400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:40280000-40280800	Enhancers	Liver	Liver
10	chr12:40280200-40281000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:40280200-40281200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:40280200-40281400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:40280200-40281400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:40280400-40285400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:40280600-40281400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:40280600-40281400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:40280800-40281800	Weak transcription	Liver	Liver
18	chr12:40281000-40281200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:40281000-40281200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:40281800-40283000	Enhancers	Liver	Liver
21	chr12:40283000-40285000	Weak transcription	Liver	Liver
22	chr12:40284800-40285000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr12:40285000-40285600	Enhancers	Fetal Kidney	kidney
24	chr12:40285000-40285600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:40285000-40289000	Enhancers	Liver	Liver
26	chr12:40285400-40286400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:40285800-40286000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr12:40285800-40286200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:40285800-40286200	Enhancers	Colon Smooth Muscle	Colon
30	chr12:40285800-40286200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr12:40285800-40286400	Enhancers	Adipose Nuclei	Adipose
32	chr12:40285800-40286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:40286000-40286200	Enhancers	Gastric	stomach
34	chr12:40286000-40286200	Enhancers	Pancreas	Pancrea
35	chr12:40286000-40286400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:40286000-40286400	Enhancers	Fetal Muscle Leg	muscle
37	chr12:40286000-40286400	Enhancers	Osteobl	bone
38	chr12:40289000-40290800	Weak transcription	Liver	Liver
39	chr12:40290800-40291400	Enhancers	Liver	Liver
40	chr12:40296400-40297000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:40296600-40297000	Enhancers	Hela-S3	cervix
42	chr12:40296600-40298200	Enhancers	HUVEC	blood vessel
43	chr12:40296800-40297200	Enhancers	Stomach Mucosa	stomach
44	chr12:40297000-40298000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:40297000-40300200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr12:40297200-40298200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:40297200-40300600	Enhancers	Fetal Brain Male	brain
48	chr12:40297800-40298000	Enhancers	Pancreas	Pancrea
49	chr12:40297800-40298800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:40297800-40298800	Enhancers	Right Atrium	heart

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