Variant report

Variant	esv3336694
Chromosome Location	chr3:46947948-46951446
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46903934..46905481-chr3:46946457..46948767,2	K562	blood:
2	chr3:46949254..46951552-chr3:47027591..47030154,3	K562	blood:
3	chr3:46950795..46951298-chr3:47039805..47040602,2	MCF-7	breast:
4	chr3:46746166..46747117-chr3:46950364..46951554,3	MCF-7	breast:
5	chr3:46950867..46953146-chr3:46955719..46957284,2	K562	blood:
6	chr3:46746164..46747149-chr3:46950735..46951651,8	K562	blood:
7	chr3:46926904..46929286-chr3:46949430..46951210,2	K562	blood:
8	chr3:46733415..46736742-chr3:46948490..46952108,3	MCF-7	breast:
9	chr3:46905362..46907252-chr3:46950757..46952265,2	K562	blood:
10	chr3:46950832..46951349-chr3:47412630..47413284,2	K562	blood:
11	chr3:46736421..46738516-chr3:46947579..46949832,2	MCF-7	breast:
12	chr3:46910106..46910730-chr3:46950930..46951702,2	MCF-7	breast:
13	chr3:46951194..46952854-chr3:46962905..46965136,2	MCF-7	breast:
14	chr3:46751310..46753575-chr3:46950623..46952874,2	K562	blood:
15	chr3:46907930..46908808-chr3:46950756..46951658,3	K562	blood:
16	chr3:46745401..46748199-chr3:46947346..46950114,2	K562	blood:
17	chr3:46951368..46952262-chr3:47039779..47040735,3	K562	blood:
18	chr3:46942485..46946438-chr3:46946739..46950463,8	K562	blood:
19	chr3:46944395..46946806-chr3:46950039..46952539,2	MCF-7	breast:
20	chr3:46901904..46902437-chr3:46950749..46951710,2	K562	blood:
21	chr3:46746540..46747094-chr3:46948369..46948995,2	K562	blood:
22	chr3:46946893..46948818-chr3:47021376..47023468,2	MCF-7	breast:
23	chr3:46746279..46747291-chr3:46951057..46951891,3	MCF-7	breast:
24	chr3:46942624..46944169-chr3:46950936..46952777,2	MCF-7	breast:
25	chr3:46949955..46951552-chr3:47027591..47029507,2	K562	blood:
26	chr3:46707782..46708419-chr3:46950685..46951647,2	MCF-7	breast:
27	chr3:46949218..46952084-chr3:46985119..46987583,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160799	chromatin interactions
ENSG00000160808	chromatin interactions
ENSG00000160801	chromatin interactions
ENSG00000178038	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537451855	chr3:46947966-46947967	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs377273208	chr3:46947999-46948000	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs150051152	chr3:46948108-46948109	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs570944598	chr3:46948121-46948122	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs144402732	chr3:46948150-46948151	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs201664417	chr3:46948163-46948164	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs188391172	chr3:46948204-46948205	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs115994222	chr3:46948231-46948232	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs536032759	chr3:46948238-46948239	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148764764	chr3:46948258-46948259	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs181914163	chr3:46948268-46948269	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs186564486	chr3:46948327-46948328	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs564693750	chr3:46948344-46948345	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs576758586	chr3:46948392-46948393	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs540797105	chr3:46948505-46948506	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs531788241	chr3:46948515-46948516	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs7652849	chr3:46948526-46948527	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373606106	chr3:46948573-46948574	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs530358221	chr3:46948599-46948600	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs548759626	chr3:46948634-46948635	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs563974213	chr3:46948661-46948662	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs531201766	chr3:46948667-46948668	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs191060581	chr3:46948687-46948688	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs183467563	chr3:46948729-46948730	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs534993499	chr3:46948751-46948752	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs546822731	chr3:46948804-46948805	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs147795833	chr3:46948805-46948806	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs536044534	chr3:46948828-46948829	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs141279536	chr3:46948829-46948830	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529269520	chr3:46948839-46948840	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575949499	chr3:46948842-46948843	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs145137787	chr3:46948890-46948891	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs536981888	chr3:46948919-46948920	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs17030635	chr3:46948976-46948977	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576811310	chr3:46949033-46949034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs199861201	chr3:46949035-46949036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs10579601	chr3:46949036-46949037	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs149597944	chr3:46949038-46949039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs397776019	chr3:46949039-46949040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs367768513	chr3:46949043-46949044	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559887720	chr3:46949059-46949060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs559193689	chr3:46949079-46949080	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140726166	chr3:46949089-46949090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs533501208	chr3:46949094-46949095	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs76928788	chr3:46949112-46949113	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs10587792	chr3:46949123-46949124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs563153782	chr3:46949125-46949126	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs71797524	chr3:46949134-46949135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs62248422	chr3:46949141-46949142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs398051899	chr3:46949143-46949144	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46934400-46951000	Weak transcription	Psoas Muscle	Psoas
2	chr3:46934600-46949400	Weak transcription	Fetal Kidney	kidney
3	chr3:46940400-46950800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:46940800-46950000	Weak transcription	Gastric	stomach
5	chr3:46941000-46949800	Weak transcription	Ovary	ovary
6	chr3:46941800-46949200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:46941800-46949600	Weak transcription	Fetal Lung	lung
8	chr3:46941800-46949600	Weak transcription	HSMMtube	muscle
9	chr3:46942000-46950600	Weak transcription	Fetal Intestine Small	intestine
10	chr3:46944200-46950800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:46945200-46950000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:46945200-46950600	Weak transcription	Placenta	Placenta
13	chr3:46945400-46949600	Weak transcription	HSMM	muscle
14	chr3:46945600-46949600	Weak transcription	HUVEC	blood vessel
15	chr3:46945600-46950000	Weak transcription	Right Ventricle	heart
16	chr3:46945600-46950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:46945600-46950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:46945600-46951000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:46945600-46951000	Weak transcription	A549	lung
20	chr3:46945800-46948600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:46945800-46949600	Weak transcription	NH-A	brain
22	chr3:46945800-46950200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:46945800-46950200	Weak transcription	NHEK	skin
24	chr3:46945800-46950800	Weak transcription	Hela-S3	cervix
25	chr3:46945800-46950800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:46945800-46951200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr3:46946000-46949600	Weak transcription	HMEC	breast
28	chr3:46946200-46950000	Weak transcription	Spleen	Spleen
29	chr3:46947000-46948200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:46947600-46948000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:46947800-46951000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:46948000-46948200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr3:46948000-46948200	Enhancers	Pancreas	Pancrea
34	chr3:46948000-46950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:46948000-46951600	Enhancers	Esophagus	oesophagus
36	chr3:46948200-46948400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:46948200-46949800	Weak transcription	Pancreas	Pancrea
38	chr3:46948400-46951600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr3:46948600-46950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:46948600-46950600	Weak transcription	Left Ventricle	heart
41	chr3:46948800-46949000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:46949000-46951200	Enhancers	Fetal Brain Male	brain
43	chr3:46949200-46949600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:46949200-46949800	Enhancers	Adipose Nuclei	Adipose
45	chr3:46949200-46950600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:46949200-46950800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:46949400-46950000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:46949400-46951400	Enhancers	Liver	Liver
49	chr3:46949400-46951400	Enhancers	Fetal Kidney	kidney
50	chr3:46949400-46951600	Enhancers	Muscle Satellite Cultured Cells	--

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