Variant report

Variant	esv3408011
Chromosome Location	chr3:46949798-46952296
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000178038	chromatin interactions
ENSG00000160801	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141995545	chr3:46949804-46949805	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183124106	chr3:46949853-46949854	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186648147	chr3:46949870-46949871	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116164791	chr3:46949889-46949890	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs146335518	chr3:46949911-46949912	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546365459	chr3:46949978-46949979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148077762	chr3:46950013-46950014	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs552100297	chr3:46950036-46950037	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541479102	chr3:46950102-46950103	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs141854825	chr3:46950103-46950104	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368627221	chr3:46950106-46950107	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191452370	chr3:46950128-46950129	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561782232	chr3:46950218-46950219	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529230001	chr3:46950222-46950223	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182243893	chr3:46950242-46950243	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569002439	chr3:46950243-46950244	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs114917218	chr3:46950248-46950249	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187548938	chr3:46950249-46950250	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553767974	chr3:46950257-46950258	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570676892	chr3:46950266-46950267	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534882759	chr3:46950272-46950273	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113721975	chr3:46950279-46950280	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370055022	chr3:46950302-46950303	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568089105	chr3:46950313-46950314	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs193121859	chr3:46950359-46950360	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs557132436	chr3:46950385-46950386	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575256449	chr3:46950404-46950405	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs546081230	chr3:46950411-46950412	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs558300452	chr3:46950417-46950418	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573343027	chr3:46950423-46950424	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs571927795	chr3:46950438-46950439	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540554796	chr3:46950439-46950440	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562043006	chr3:46950440-46950441	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375414605	chr3:46950457-46950458	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529290964	chr3:46950472-46950473	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545932892	chr3:46950503-46950504	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563796783	chr3:46950527-46950528	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185150630	chr3:46950579-46950580	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562845164	chr3:46950606-46950607	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190118790	chr3:46950618-46950619	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552101917	chr3:46950669-46950670	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372353932	chr3:46950678-46950679	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564338738	chr3:46950969-46950970	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs528250467	chr3:46950972-46950973	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367988748	chr3:46950999-46951000	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546960659	chr3:46951037-46951038	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568351890	chr3:46951048-46951049	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs535450172	chr3:46951064-46951065	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550545810	chr3:46951099-46951100	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs150689008	chr3:46951101-46951102	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46934400-46951000	Weak transcription	Psoas Muscle	Psoas
2	chr3:46940400-46950800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:46940800-46950000	Weak transcription	Gastric	stomach
4	chr3:46941000-46949800	Weak transcription	Ovary	ovary
5	chr3:46942000-46950600	Weak transcription	Fetal Intestine Small	intestine
6	chr3:46944200-46950800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:46945200-46950000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:46945200-46950600	Weak transcription	Placenta	Placenta
9	chr3:46945600-46950000	Weak transcription	Right Ventricle	heart
10	chr3:46945600-46950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:46945600-46950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:46945600-46951000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:46945600-46951000	Weak transcription	A549	lung
14	chr3:46945800-46950200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:46945800-46950200	Weak transcription	NHEK	skin
16	chr3:46945800-46950800	Weak transcription	Hela-S3	cervix
17	chr3:46945800-46950800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:46945800-46951200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:46946200-46950000	Weak transcription	Spleen	Spleen
20	chr3:46947800-46951000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:46948000-46950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:46948000-46951600	Enhancers	Esophagus	oesophagus
23	chr3:46948200-46949800	Weak transcription	Pancreas	Pancrea
24	chr3:46948400-46951600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:46948600-46950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:46948600-46950600	Weak transcription	Left Ventricle	heart
27	chr3:46949000-46951200	Enhancers	Fetal Brain Male	brain
28	chr3:46949200-46949800	Enhancers	Adipose Nuclei	Adipose
29	chr3:46949200-46950600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:46949200-46950800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:46949400-46950000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:46949400-46951400	Enhancers	Liver	Liver
33	chr3:46949400-46951400	Enhancers	Fetal Kidney	kidney
34	chr3:46949400-46951600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:46949600-46950000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:46949600-46950000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:46949600-46950000	Enhancers	Osteobl	bone
38	chr3:46949600-46951200	Enhancers	HUVEC	blood vessel
39	chr3:46949600-46951400	Enhancers	Fetal Lung	lung
40	chr3:46949600-46951600	Enhancers	HMEC	breast
41	chr3:46949600-46951600	Enhancers	HSMM	muscle
42	chr3:46949600-46951600	Enhancers	HSMMtube	muscle
43	chr3:46949600-46951600	Enhancers	NH-A	brain
44	chr3:46949600-46951600	Enhancers	NHLF	lung
45	chr3:46949800-46950400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:46949800-46950400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr3:46949800-46950800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:46949800-46951000	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr3:46949800-46951000	Bivalent Enhancer	Fetal Stomach	stomach
50	chr3:46949800-46951400	Enhancers	Pancreas	Pancrea

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