Variant report

Variant	esv3438568
Chromosome Location	chr2:95963275-95966073
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:95960803..95963798-chr2:95965929..95968308,2	K562	blood:
2	chr2:95940517..95944027-chr2:95960761..95967163,11	MCF-7	breast:
3	chr2:95829346..95831231-chr2:95961091..95963572,2	MCF-7	breast:
4	chr2:95830665..95832278-chr2:95962096..95964714,2	MCF-7	breast:
5	chr2:95936537..95940362-chr2:95963521..95966858,4	MCF-7	breast:
6	chr11:62607405..62609560-chr2:95960744..95963528,2	MCF-7	breast:
7	chr2:95960855..95962599-chr2:95964670..95966568,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PROM2-2	chr2:95964431-95964868	NONHSAT072476

No data

Variant related genes	Relation type
ENSG00000115041	chromatin interactions
ENSG00000155066	chromatin interactions
ENSG00000163067	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000144026	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111766364	chr2:95963294-95963295	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs558246074	chr2:95963333-95963334	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs372422694	chr2:95963352-95963353	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs543947131	chr2:95963364-95963365	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs180838186	chr2:95963365-95963366	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs374749191	chr2:95963441-95963442	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs144943394	chr2:95963537-95963538	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs186187846	chr2:95963560-95963561	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs190312071	chr2:95963561-95963562	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs561329137	chr2:95963579-95963580	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs539261100	chr2:95963597-95963598	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs547004992	chr2:95963661-95963662	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs564180718	chr2:95963683-95963684	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs149097240	chr2:95963696-95963697	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs72819496	chr2:95963702-95963703	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs569796897	chr2:95963703-95963704	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs535723363	chr2:95963728-95963729	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs527912411	chr2:95963793-95963794	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs369713839	chr2:95963814-95963815	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs549331980	chr2:95963820-95963821	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs565996190	chr2:95963842-95963843	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs528286979	chr2:95963900-95963901	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs374053182	chr2:95963927-95963928	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs569697527	chr2:95963943-95963944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs534985733	chr2:95963945-95963946	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs148724862	chr2:95963974-95963975	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs202014386	chr2:95963975-95963976	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs112299072	chr2:95963976-95963977	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs67310153	chr2:95963977-95963978	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs59392267	chr2:95963979-95963980	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs557868633	chr2:95964000-95964001	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs145908476	chr2:95964034-95964035	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs368347012	chr2:95964119-95964120	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs557530138	chr2:95964150-95964151	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs573927021	chr2:95964164-95964165	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs542901150	chr2:95964206-95964207	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs553217218	chr2:95964238-95964239	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs181958727	chr2:95964243-95964244	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs185919865	chr2:95964294-95964295	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs563936138	chr2:95964304-95964305	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs533041666	chr2:95964342-95964343	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs549126742	chr2:95964350-95964351	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs190683561	chr2:95964353-95964354	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs563482151	chr2:95964360-95964361	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs529064381	chr2:95964410-95964411	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs549217753	chr2:95964433-95964434	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs3755524	chr2:95964457-95964458	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs112499535	chr2:95964492-95964493	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs528401798	chr2:95964569-95964570	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs138937366	chr2:95964602-95964603	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95956400-95965800	Weak transcription	Esophagus	oesophagus
2	chr2:95960000-95973000	Enhancers	Fetal Brain Male	brain
3	chr2:95961600-95965000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:95961800-95963400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr2:95961800-95963600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:95962000-95963800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:95962200-95963800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:95962200-95963800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:95962200-95963800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:95962200-95964000	Enhancers	Fetal Lung	lung
11	chr2:95962400-95963400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:95962400-95963800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:95962400-95964600	Flanking Active TSS	Dnd41	blood
14	chr2:95962600-95963600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:95962600-95963800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr2:95962600-95963800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:95962800-95963400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:95962800-95963400	Active TSS	Brain Angular Gyrus	brain
19	chr2:95962800-95963400	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:95962800-95963400	Enhancers	Fetal Thymus	thymus
21	chr2:95962800-95963400	Active TSS	Right Atrium	heart
22	chr2:95962800-95963600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr2:95962800-95963600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:95962800-95963600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:95962800-95963600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:95962800-95963600	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr2:95962800-95963600	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr2:95962800-95963800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:95962800-95963800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr2:95962800-95964000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:95963000-95963400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:95963000-95963400	Active TSS	Brain Hippocampus Middle	brain
33	chr2:95963000-95963400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:95963000-95963400	Active TSS	Brain Substantia Nigra	brain
35	chr2:95963000-95963400	Active TSS	Fetal Intestine Small	intestine
36	chr2:95963000-95963400	Weak transcription	Gastric	stomach
37	chr2:95963000-95963600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:95963000-95963600	Active TSS	Brain Anterior Caudate	brain
39	chr2:95963000-95963600	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr2:95963000-95963600	Active TSS	Pancreas	Pancrea
41	chr2:95963000-95963800	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr2:95963200-95963400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:95963200-95963400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:95963200-95963400	Active TSS	Duodenum Mucosa	Duodenum
45	chr2:95963200-95963400	Flanking Active TSS	Fetal Stomach	stomach
46	chr2:95963200-95963600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:95963200-95963600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:95963200-95963600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:95963200-95963600	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr2:95963200-95963800	Enhancers	HUES48 Cell Line	embryonic stem cell

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