Variant report

Variant	nsv581751
Chromosome Location	chr2:47243124-47255723
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:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47249673..47251618-chr2:47253667..47255571,2	MCF-7	breast:
2	chr2:47242011..47245119-chr2:47248786..47251159,3	K562	blood:
3	chr17:57919156..57921575-chr2:47249552..47252093,2	MCF-7	breast:
4	chr2:47255574..47257278-chr2:47259885..47262274,2	MCF-7	breast:
5	chr2:47247796..47250364-chr2:47260163..47262120,2	MCF-7	breast:
6	chr2:47244477..47246233-chr2:47418737..47420783,2	MCF-7	breast:
7	chr2:47246499..47248286-chr2:47253507..47255645,2	MCF-7	breast:
8	chr2:47249673..47251618-chr2:47253667..47255571,2	MCF-7	breast:
9	chr2:47219377..47221556-chr2:47242383..47245078,2	MCF-7	breast:
10	chr2:47243930..47246637-chr2:47261701..47264377,2	MCF-7	breast:
11	chr2:47246848..47248803-chr2:47402260..47405081,2	MCF-7	breast:
12	chr2:47230310..47234237-chr2:47240805..47244981,3	K562	blood:
13	chr2:47246848..47250170-chr2:47255935..47259327,3	MCF-7	breast:
14	chr2:47237265..47239220-chr2:47246288..47248060,2	K562	blood:
15	chr2:47253562..47255469-chr2:47401214..47402778,2	K562	blood:
16	chr2:47230013..47232096-chr2:47242841..47244981,3	K562	blood:
17	chr2:47239533..47242401-chr2:47254885..47256539,3	MCF-7	breast:
18	chr2:47252397..47254046-chr2:47254810..47257644,2	K562	blood:
19	chr2:47252454..47254562-chr2:47258233..47260100,2	K562	blood:
20	chr2:47247505..47249498-chr2:47258978..47261043,2	K562	blood:
21	chr2:47246091..47247839-chr2:47402201..47405168,2	K562	blood:
22	chr2:47240423..47243705-chr2:47401498..47404944,5	MCF-7	breast:
23	chr2:47248098..47250499-chr2:47402045..47403673,2	K562	blood:
24	chr2:47246499..47248286-chr2:47253507..47255645,2	MCF-7	breast:
25	chr2:47251517..47253255-chr2:47403256..47405239,2	K562	blood:
26	chr2:47213914..47214545-chr2:47245154..47245890,2	MCF-7	breast:
27	chr2:47247534..47249636-chr2:47250357..47252583,2	MCF-7	breast:
28	chr2:47247292..47249498-chr2:47258978..47261257,2	K562	blood:
29	chr2:47237082..47239286-chr2:47241685..47244627,2	K562	blood:
30	chr2:47250659..47252384-chr2:47268724..47270646,2	MCF-7	breast:
31	chr2:47242011..47245119-chr2:47248786..47251159,3	K562	blood:
32	chr2:47252232..47263251-chr2:47397787..47406051,20	MCF-7	breast:
33	chr2:47252397..47254046-chr2:47254810..47257644,2	K562	blood:
34	chr2:47247534..47249636-chr2:47250357..47252583,2	MCF-7	breast:
35	chr2:47241809..47243733-chr2:47418133..47419880,2	MCF-7	breast:
36	chr2:47252113..47260352-chr2:47399089..47405669,11	MCF-7	breast:
37	chr2:47227819..47229844-chr2:47253559..47255515,2	K562	blood:
38	chr2:47214073..47216296-chr2:47255513..47257887,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALM2-5	chr2:47253515-47254279	expReg_chr2_3631_-
2	lnc-CALM2-6	chr2:47253068-47253374	expReg_chr2_3630_-

No data

Variant related genes	Relation type
ENSG00000068724	chromatin interactions
ENSG00000143933	chromatin interactions

Extended variants
information (count: 684 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1036292	chr2:47243124-47243125	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552570117	chr2:47243136-47243137	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550681383	chr2:47243148-47243149	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569092230	chr2:47243158-47243159	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539618434	chr2:47243164-47243165	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551707441	chr2:47243171-47243172	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574663355	chr2:47243187-47243188	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs1036293	chr2:47243188-47243189	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189864879	chr2:47243192-47243193	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372905065	chr2:47243193-47243194	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs151126416	chr2:47243200-47243201	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547582108	chr2:47243211-47243212	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573961806	chr2:47243224-47243225	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537968774	chr2:47243237-47243238	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563460651	chr2:47243273-47243274	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375188877	chr2:47243277-47243278	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2163982	chr2:47243312-47243313	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs150263884	chr2:47243338-47243339	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4953441	chr2:47243343-47243344	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564030129	chr2:47243353-47243354	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs182118852	chr2:47243400-47243401	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs13427848	chr2:47243418-47243419	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535591455	chr2:47243435-47243436	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528050356	chr2:47243438-47243439	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543285415	chr2:47243475-47243476	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561564638	chr2:47243480-47243481	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528848672	chr2:47243488-47243489	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs13427974	chr2:47243523-47243524	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562523792	chr2:47243526-47243527	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188049793	chr2:47243551-47243552	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551646738	chr2:47243590-47243591	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs111549168	chr2:47243594-47243595	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs138901470	chr2:47243621-47243622	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372421072	chr2:47243672-47243673	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs143170091	chr2:47243723-47243724	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73929353	chr2:47243741-47243742	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567572281	chr2:47243794-47243795	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537800590	chr2:47243797-47243798	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372395182	chr2:47243949-47243950	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12466088	chr2:47243990-47243991	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577756222	chr2:47243995-47243996	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12469879	chr2:47243996-47243997	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554101543	chr2:47243997-47243998	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147074098	chr2:47244001-47244002	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542969432	chr2:47244003-47244004	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138383760	chr2:47244008-47244009	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs72806585	chr2:47244053-47244054	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs143868218	chr2:47244059-47244060	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs57514816	chr2:47244068-47244069	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191021392	chr2:47244069-47244070	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
6	chr2:47223600-47246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:47229200-47248600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:47230200-47302800	Strong transcription	Dnd41	blood
9	chr2:47231800-47243800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:47232000-47265000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:47232400-47245000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:47232400-47257000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:47232800-47244000	Strong transcription	Esophagus	oesophagus
14	chr2:47234400-47283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:47236000-47243400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:47236000-47278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:47236400-47243400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:47236400-47243400	Weak transcription	Stomach Mucosa	stomach
19	chr2:47236400-47243600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:47236600-47243200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:47236600-47253600	Strong transcription	Fetal Intestine Small	intestine
22	chr2:47236600-47259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:47236600-47259200	Weak transcription	Fetal Kidney	kidney
24	chr2:47236800-47243400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:47236800-47251600	Weak transcription	Fetal Lung	lung
26	chr2:47237000-47243400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:47237000-47246800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:47237000-47247400	Strong transcription	Fetal Stomach	stomach
29	chr2:47237000-47254200	Weak transcription	Ovary	ovary
30	chr2:47237000-47260400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:47237200-47249200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:47237400-47245200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:47237600-47244200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:47238000-47244200	Strong transcription	Primary B cells from cord blood	blood
35	chr2:47238000-47247400	Strong transcription	Primary T cells from cord blood	blood
36	chr2:47238200-47243400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr2:47238200-47244000	Strong transcription	Pancreas	Pancrea
38	chr2:47238200-47244000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:47238200-47253400	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr2:47238200-47253600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:47238200-47253800	Strong transcription	HepG2	liver
42	chr2:47238400-47243200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:47239000-47243600	Strong transcription	GM12878-XiMat	blood
44	chr2:47239400-47249200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:47239600-47244000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:47239800-47243600	Enhancers	Fetal Brain Female	brain
47	chr2:47239800-47246000	Weak transcription	Fetal Heart	heart
48	chr2:47240000-47249800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:47240200-47251800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:47240200-47256000	Weak transcription	H9 Cell Line	embryonic stem cell

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