Variant report

Variant	nsv9713
Chromosome Location	chr2:46775356-46790566
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46778318..46780093-chr2:46788541..46791155,2	K562	blood:
2	chr2:46778318..46780393-chr2:46788541..46791155,3	K562	blood:
3	chr2:46780336..46782710-chr2:46791524..46793120,2	K562	blood:
4	chr2:46774212..46777440-chr2:46842823..46846024,3	K562	blood:
5	chr2:46780322..46782811-chr2:46783470..46785498,2	K562	blood:
6	chr2:46789524..46792081-chr2:46795199..46798160,3	K562	blood:
7	chr2:46782460..46784571-chr2:46785094..46788093,2	K562	blood:
8	chr2:46788951..46790463-chr2:46844313..46846805,2	K562	blood:
9	chr2:46778318..46780093-chr2:46788541..46791155,2	K562	blood:
10	chr2:46776310..46779098-chr2:46785814..46787869,2	MCF-7	breast:
11	chr2:46776310..46779098-chr2:46785814..46787869,2	MCF-7	breast:
12	chr2:46786591..46788548-chr2:46799220..46801395,2	K562	blood:
13	chr2:46780322..46782811-chr2:46783470..46785498,2	K562	blood:
14	chr2:46769633..46771937-chr2:46780333..46785033,5	MCF-7	breast:
15	chr2:46770713..46772773-chr2:46786374..46788459,2	MCF-7	breast:
16	chr2:46769168..46772138-chr2:46777700..46782112,5	MCF-7	breast:
17	chr2:46787456..46790384-chr2:46790520..46794497,4	K562	blood:
18	chr2:46790452..46793427-chr2:46811827..46814978,3	MCF-7	breast:
19	chr2:46773973..46776728-chr2:46790942..46793307,2	MCF-7	breast:
20	chr2:46787456..46790451-chr2:46790520..46794497,4	K562	blood:
21	chr2:46769021..46773979-chr2:46774333..46777688,7	MCF-7	breast:
22	chr2:46787456..46790451-chr2:46790520..46794497,4	K562	blood:
23	chr2:46782460..46784571-chr2:46785094..46788093,2	K562	blood:
24	chr2:46769527..46771169-chr2:46785080..46787401,2	MCF-7	breast:
25	chr2:46787456..46790384-chr2:46790520..46794497,4	K562	blood:
26	chr2:46768893..46770397-chr2:46786496..46788248,2	K562	blood:
27	chr2:46688652..46689180-chr2:46781896..46782657,2	K562	blood:
28	chr2:46774785..46776728-chr2:46780493..46783223,2	MCF-7	breast:
29	chr2:46774785..46776728-chr2:46780493..46783223,2	MCF-7	breast:
30	chr2:46781985..46785151-chr2:46792596..46794911,4	MCF-7	breast:
31	chr2:46778318..46780393-chr2:46788541..46791155,3	K562	blood:
32	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119878	chromatin interactions
ENSG00000151665	chromatin interactions
ENSG00000253515	chromatin interactions
ENSG00000119729	chromatin interactions
ENSG00000250565	chromatin interactions

Extended variants
information (count: 576 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:576 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146150962	chr2:46775363-46775364	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs77077318	chr2:46775384-46775385	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs570642097	chr2:46775433-46775434	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs555758708	chr2:46775442-46775443	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs539686929	chr2:46775470-46775471	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs140153570	chr2:46775544-46775545	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs142095212	chr2:46775581-46775582	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs535556130	chr2:46775596-46775597	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs34055106	chr2:46775619-46775620	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs555137794	chr2:46775690-46775691	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs191503392	chr2:46775715-46775716	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs543154068	chr2:46775723-46775724	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs540644790	chr2:46775739-46775740	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs564524432	chr2:46775749-46775750	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs79292010	chr2:46775757-46775758	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs577456998	chr2:46775769-46775770	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs575544699	chr2:46775794-46775795	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs546033226	chr2:46775805-46775806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs562745686	chr2:46775815-46775816	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs576459080	chr2:46775858-46775859	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs144737502	chr2:46775861-46775862	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs148525117	chr2:46775873-46775874	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs183110424	chr2:46775981-46775982	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs150146819	chr2:46775984-46775985	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs534848742	chr2:46776017-46776018	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs527720705	chr2:46776094-46776095	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs76351148	chr2:46776150-46776151	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs139858259	chr2:46776151-46776152	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs544493296	chr2:46776155-46776156	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs527837555	chr2:46776263-46776264	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs570773219	chr2:46776278-46776279	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs549306802	chr2:46776284-46776285	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs550061465	chr2:46776294-46776295	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs188194341	chr2:46776302-46776303	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs373315854	chr2:46776303-46776304	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs80314592	chr2:46776379-46776380	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs565621638	chr2:46776469-46776470	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs534651758	chr2:46776521-46776522	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs2053900	chr2:46776543-46776544	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56059578	chr2:46776584-46776585	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs116334104	chr2:46776596-46776597	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs538674689	chr2:46776597-46776598	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs576258060	chr2:46776611-46776612	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs376452517	chr2:46776623-46776624	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs562250872	chr2:46776648-46776649	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs560338788	chr2:46776661-46776662	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs547631923	chr2:46776692-46776693	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs527782627	chr2:46776721-46776722	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs189996742	chr2:46776723-46776724	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs79391785	chr2:46776729-46776730	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46771000-46776600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr2:46771000-46781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:46771200-46778000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:46771200-46780000	Enhancers	Psoas Muscle	Psoas
5	chr2:46771200-46781400	Weak transcription	NHEK	skin
6	chr2:46771200-46781600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:46771200-46781600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:46771200-46812800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:46771400-46777000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:46771400-46778000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:46771400-46780000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr2:46771400-46781600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:46771400-46789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:46771400-46796000	Weak transcription	Fetal Kidney	kidney
15	chr2:46771600-46777000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:46771600-46781600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:46771600-46781600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:46771800-46775400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:46771800-46777000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:46771800-46777000	Enhancers	Brain Angular Gyrus	brain
21	chr2:46771800-46777600	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:46771800-46780000	Enhancers	Right Atrium	heart
23	chr2:46771800-46781400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:46771800-46781400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:46771800-46781600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:46771800-46782000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:46771800-46782400	Weak transcription	HMEC	breast
28	chr2:46771800-46795600	Weak transcription	Fetal Brain Male	brain
29	chr2:46772000-46777200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:46772000-46782600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:46772200-46776000	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:46772200-46776200	Enhancers	Colon Smooth Muscle	Colon
33	chr2:46772200-46780200	Genic enhancers	Left Ventricle	heart
34	chr2:46772200-46804000	Weak transcription	NH-A	brain
35	chr2:46772400-46775400	Weak transcription	Dnd41	blood
36	chr2:46772400-46777000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:46772400-46777000	Genic enhancers	NHDF-Ad	bronchial
38	chr2:46772800-46776000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
39	chr2:46772800-46776200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:46772800-46777600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:46773000-46780200	Strong transcription	Osteobl	bone
42	chr2:46773200-46776000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:46773200-46776200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:46773200-46776200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:46773200-46777400	Weak transcription	K562	blood
46	chr2:46773200-46806000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:46773400-46776200	Strong transcription	NHLF	lung
48	chr2:46773400-46779800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:46773600-46776000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:46773600-46778600	Genic enhancers	Brain Hippocampus Middle	brain

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