Variant report

Variant	nsv979100
Chromosome Location	chr2:112792445-112806085
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:112645003..112645750-chr2:112805810..112806621,2	MCF-7	breast:
2	chr2:112640171..112645410-chr2:112802081..112806839,5	MCF-7	breast:
3	chr2:112645054..112646137-chr2:112805997..112807291,12	MCF-7	breast:
4	chr2:112654547..112656932-chr2:112789072..112792767,3	MCF-7	breast:
5	chr2:112804262..112806076-chr2:112808977..112811892,2	K562	blood:
6	chr2:112644990..112645989-chr2:112805418..112807010,11	K562	blood:
7	chr2:112784747..112789219-chr2:112793429..112796621,4	K562	blood:
8	chr2:112801843..112803949-chr2:112807499..112810301,2	K562	blood:
9	chr2:112687420..112689680-chr2:112803125..112805522,2	MCF-7	breast:
10	chr2:112655301..112655903-chr2:112806007..112806643,3	MCF-7	breast:
11	chr2:112655209..112656068-chr2:112805939..112806705,3	K562	blood:
12	chr2:112657825..112659209-chr2:112806011..112807065,8	MCF-7	breast:
13	chr2:112655190..112656611-chr2:112805884..112807102,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153107	chromatin interactions
ENSG00000236307	chromatin interactions
ENSG00000240183	chromatin interactions
ENSG00000153208	chromatin interactions

Extended variants
information (count: 450 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532518834	chr2:112792483-112792484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528706781	chr2:112792503-112792504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562579582	chr2:112792507-112792508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562110146	chr2:112792538-112792539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375542649	chr2:112792614-112792615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143079965	chr2:112792624-112792625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10169022	chr2:112792656-112792657	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs570559790	chr2:112792678-112792679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374910153	chr2:112792688-112792689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533143828	chr2:112792720-112792721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562775803	chr2:112792743-112792744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148212515	chr2:112792837-112792838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566932862	chr2:112792875-112792876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71414621	chr2:112792887-112792888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201716672	chr2:112792896-112792897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67325082	chr2:112792897-112792898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397985473	chr2:112792910-112792911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187176435	chr2:112792943-112792944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578180403	chr2:112792958-112792959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568218826	chr2:112793067-112793068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537344732	chr2:112793080-112793081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192418825	chr2:112793098-112793099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576950399	chr2:112793099-112793100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116474541	chr2:112793112-112793113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548943774	chr2:112793113-112793114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115720329	chr2:112793121-112793122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572913143	chr2:112793172-112793173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527946016	chr2:112793174-112793175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12995767	chr2:112793183-112793184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562313381	chr2:112793189-112793190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6710913	chr2:112793196-112793197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370754249	chr2:112793202-112793203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544542997	chr2:112793227-112793228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111862699	chr2:112793297-112793298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150727729	chr2:112793336-112793337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546991281	chr2:112793351-112793352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566718391	chr2:112793355-112793356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533141548	chr2:112793376-112793377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529397169	chr2:112793391-112793392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558600499	chr2:112793414-112793415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568806437	chr2:112793419-112793420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182515174	chr2:112793505-112793506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537228191	chr2:112793511-112793512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557322541	chr2:112793516-112793517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72825696	chr2:112793671-112793672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375864124	chr2:112793720-112793721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540169408	chr2:112793738-112793739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187929428	chr2:112793816-112793817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552945006	chr2:112793826-112793827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35108933	chr2:112793899-112793900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112783200-112802200	Weak transcription	Aorta	Aorta
2	chr2:112786200-112798800	Weak transcription	K562	blood
3	chr2:112786400-112796000	Weak transcription	Gastric	stomach
4	chr2:112789000-112792600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:112789000-112792600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:112790800-112792600	Enhancers	Dnd41	blood
7	chr2:112790800-112799600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:112791000-112798800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:112791400-112794800	Weak transcription	Left Ventricle	heart
10	chr2:112791600-112797200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:112791600-112798800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:112792000-112794800	Weak transcription	Esophagus	oesophagus
13	chr2:112793800-112797000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:112794800-112795000	Enhancers	Esophagus	oesophagus
15	chr2:112794800-112795000	ZNF genes & repeats	Left Ventricle	heart
16	chr2:112796000-112796200	Enhancers	Gastric	stomach
17	chr2:112796800-112797200	Weak transcription	Lung	lung
18	chr2:112797000-112797400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:112797200-112797400	ZNF genes & repeats	Lung	lung
20	chr2:112797200-112797600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:112797200-112799800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:112797400-112797800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:112797400-112799800	Enhancers	Placenta	Placenta
24	chr2:112797600-112797800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:112797800-112798000	Enhancers	Esophagus	oesophagus
26	chr2:112797800-112799000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:112798000-112798600	Weak transcription	Esophagus	oesophagus
28	chr2:112798000-112799600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:112798200-112801400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:112798600-112799600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:112798800-112799000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:112798800-112799000	Enhancers	Esophagus	oesophagus
33	chr2:112798800-112799000	Enhancers	K562	blood
34	chr2:112798800-112799600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:112798800-112799600	Enhancers	HepG2	liver
36	chr2:112798800-112799800	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:112798800-112800000	Enhancers	Fetal Intestine Large	intestine
38	chr2:112798800-112800600	Enhancers	Fetal Intestine Small	intestine
39	chr2:112799000-112799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:112799000-112799400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:112799000-112799400	Weak transcription	K562	blood
42	chr2:112799000-112799800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:112799400-112800200	Enhancers	K562	blood
44	chr2:112799400-112800800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:112799600-112799800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:112799600-112800200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:112799600-112801200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:112799600-112801400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:112799600-112802000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:112799800-112801200	Weak transcription	Rectal Mucosa Donor 31	rectum

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