Variant report

Variant	nsv979002
Chromosome Location	chr2:48023322-48025041
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48008730..48016091-chr2:48023378..48031018,13	K562	blood:
2	chr2:48024799..48028415-chr2:48033995..48037320,3	K562	blood:
3	chr2:48011141..48015679-chr2:48023292..48025475,4	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO11-6	chr2:48024174-48024255	NONHSAT070598
2	lnc-KCNK12-4	chr2:48024965-48025230	NONHSAT070599
3	lnc-FBXO11-6	chr2:48022339-48023461	NONHSAT070598

No data

Variant related genes	Relation type
ENSG00000138081	chromatin interactions
ENSG00000116062	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3136318	chr2:48023359-48023360	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574557847	chr2:48023376-48023377	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs12990994	chr2:48023380-48023381	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs12991162	chr2:48023388-48023389	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs541963937	chr2:48023398-48023399	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs12991196	chr2:48023478-48023479	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563678155	chr2:48023501-48023502	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376936290	chr2:48023509-48023510	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3136319	chr2:48023513-48023514	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs3136320	chr2:48023556-48023557	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61536384	chr2:48023562-48023563	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186928058	chr2:48023581-48023582	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545913118	chr2:48023587-48023588	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138385172	chr2:48023630-48023631	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574558576	chr2:48023676-48023677	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58668877	chr2:48023697-48023698	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570198958	chr2:48023753-48023754	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537435606	chr2:48023774-48023775	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545514530	chr2:48023815-48023816	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369057568	chr2:48023819-48023820	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191704751	chr2:48023827-48023828	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2159886	chr2:48023873-48023874	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs3136321	chr2:48023897-48023898	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149235534	chr2:48023912-48023913	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372654081	chr2:48023936-48023937	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569681793	chr2:48024010-48024011	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184266890	chr2:48024023-48024024	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541283191	chr2:48024035-48024036	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551825304	chr2:48024039-48024040	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570131642	chr2:48024043-48024044	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35408396	chr2:48024050-48024051	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534280310	chr2:48024077-48024078	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552854871	chr2:48024103-48024104	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144401612	chr2:48024115-48024116	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139004894	chr2:48024120-48024121	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557103099	chr2:48024169-48024170	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115769466	chr2:48024196-48024197	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs546343546	chr2:48024203-48024204	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs560840685	chr2:48024249-48024250	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs142183144	chr2:48024272-48024273	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs3136323	chr2:48024311-48024312	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528019299	chr2:48024312-48024313	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs3136324	chr2:48024324-48024325	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562408647	chr2:48024346-48024347	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs3136325	chr2:48024355-48024356	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs3136326	chr2:48024402-48024403	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373105315	chr2:48024412-48024413	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369488273	chr2:48024415-48024416	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192925914	chr2:48024420-48024421	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370388495	chr2:48024487-48024488	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48011800-48026200	Weak transcription	Stomach Mucosa	stomach
2	chr2:48012000-48023400	Weak transcription	HSMMtube	muscle
3	chr2:48012000-48024400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:48012000-48024600	Weak transcription	Aorta	Aorta
5	chr2:48012000-48024600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:48012000-48024800	Weak transcription	NHEK	skin
7	chr2:48012000-48026000	Weak transcription	Esophagus	oesophagus
8	chr2:48012000-48026000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:48012000-48026200	Weak transcription	Gastric	stomach
10	chr2:48012200-48023600	Weak transcription	Left Ventricle	heart
11	chr2:48012200-48024600	Weak transcription	Right Ventricle	heart
12	chr2:48012200-48026000	Weak transcription	Small Intestine	intestine
13	chr2:48012200-48030000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:48012600-48023800	Weak transcription	Colonic Mucosa	Colon
15	chr2:48012600-48065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:48013400-48023400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:48013400-48023600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:48013400-48023800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:48013400-48023800	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:48013400-48023800	Weak transcription	Fetal Brain Male	brain
21	chr2:48013400-48024200	Weak transcription	Fetal Heart	heart
22	chr2:48013400-48025800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:48015000-48029600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:48016000-48029600	Strong transcription	Fetal Thymus	thymus
25	chr2:48016200-48029600	Strong transcription	Fetal Stomach	stomach
26	chr2:48016200-48030000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:48016200-48050400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:48016400-48029800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:48016600-48025800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:48016600-48030000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:48016800-48030200	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:48017000-48036200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr2:48017000-48049400	Strong transcription	Fetal Intestine Large	intestine
34	chr2:48017200-48024800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:48017200-48025800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:48017200-48053200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:48017400-48032200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:48017400-48049600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:48017800-48037800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:48018000-48025800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:48018000-48030200	Strong transcription	Brain Germinal Matrix	brain
42	chr2:48018000-48030400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:48018200-48030200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:48018200-48030200	Strong transcription	Fetal Brain Female	brain
45	chr2:48018200-48030600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:48018400-48023800	Strong transcription	Ovary	ovary
47	chr2:48018400-48024800	Weak transcription	Pancreas	Pancrea
48	chr2:48018400-48029200	Strong transcription	A549	lung
49	chr2:48018400-48030200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:48018600-48026600	Strong transcription	Fetal Intestine Small	intestine

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