Variant report

Variant	esv1811477
Chromosome Location	chr2:100089078-100105013
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
2	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
3	chr2:100100281..100102788-chr2:100105250..100107935,2	MCF-7	breast:
4	chr2:100080735..100084657-chr2:100090928..100093443,3	K562	blood:
5	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
6	chr2:100091037..100094858-chr2:100099869..100102767,4	K562	blood:
7	chr2:27881530..27883047-chr2:100099438..100101050,2	MCF-7	breast:
8	chr2:100103127..100105220-chr2:100105235..100107072,2	MCF-7	breast:
9	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
10	chr2:100087595..100089096-chr2:100090818..100093356,2	K562	blood:
11	chr2:100088510..100094256-chr2:100103985..100108648,6	K562	blood:
12	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
13	chr2:100084922..100089797-chr2:100104456..100108052,9	MCF-7	breast:
14	chr2:100011720..100013891-chr2:100102274..100104165,2	K562	blood:
15	chr2:100091037..100094858-chr2:100099869..100102767,4	K562	blood:
16	chr2:99796371..99799059-chr2:100100777..100103682,2	MCF-7	breast:
17	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
18	chr2:99951551..99954108-chr2:100100091..100102381,2	K562	blood:
19	chr2:100078933..100081024-chr2:100087446..100090857,3	K562	blood:
20	chr2:100082529..100085149-chr2:100097513..100099480,2	K562	blood:
21	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
22	chr2:100104879..100106389-chr2:100120710..100122893,2	MCF-7	breast:
23	chr2:100066768..100070769-chr2:100085883..100089135,3	K562	blood:
24	chr2:100082191..100084657-chr2:100091943..100094929,2	K562	blood:
25	chr2:100045644..100048567-chr2:100103283..100105124,2	K562	blood:
26	chr2:100088451..100090156-chr2:100093150..100094831,2	MCF-7	breast:
27	chr2:100077312..100079121-chr2:100100989..100102811,2	K562	blood:
28	chr2:100091441..100093893-chr2:100095526..100097800,4	K562	blood:
29	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:
30	chr2:100019850..100022413-chr2:100104870..100107869,3	MCF-7	breast:
31	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:
32	chr2:99796217..99798600-chr2:100104908..100107681,3	K562	blood:
33	chr2:100091441..100093893-chr2:100095526..100097800,4	K562	blood:
34	chr2:100092416..100102947-chr2:100103557..100108181,19	MCF-7	breast:
35	chr2:99952415..99954577-chr2:100101593..100103318,2	MCF-7	breast:
36	chr2:100087595..100089096-chr2:100090818..100093356,2	K562	blood:
37	chr2:100077312..100079751-chr2:100099970..100102811,3	K562	blood:
38	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
39	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
40	chr2:99952384..99954745-chr2:100101155..100103970,2	K562	blood:
41	chr2:100088451..100090156-chr2:100093150..100094831,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273306	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000185414	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000170500	chromatin interactions
ENSG00000241962	chromatin interactions
ENSG00000158411	chromatin interactions

Extended variants
information (count: 536 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs737094	chr2:100089078-100089079	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73963886	chr2:100089086-100089087	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563502521	chr2:100089091-100089092	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373660388	chr2:100089172-100089173	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs896249	chr2:100089212-100089213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs528977647	chr2:100089236-100089237	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543279441	chr2:100089258-100089259	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565639769	chr2:100089270-100089271	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149971957	chr2:100089273-100089274	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571550809	chr2:100089303-100089304	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537368958	chr2:100089363-100089364	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs36059073	chr2:100089386-100089387	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373101258	chr2:100089406-100089407	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561405651	chr2:100089481-100089482	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60730619	chr2:100089525-100089526	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576421724	chr2:100089600-100089601	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541866762	chr2:100089692-100089693	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191606678	chr2:100089694-100089695	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572471451	chr2:100089703-100089704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541195424	chr2:100089722-100089723	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564374328	chr2:100089733-100089734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533424722	chr2:100089817-100089818	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10645145	chr2:100089828-100089829	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs60098774	chr2:100089841-100089842	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543753078	chr2:100089851-100089852	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6542881	chr2:100089871-100089872	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs528832360	chr2:100089882-100089883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548723897	chr2:100089884-100089885	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146065843	chr2:100089987-100089988	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2309604	chr2:100090098-100090099	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs565135602	chr2:100090101-100090102	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551580776	chr2:100090115-100090116	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140162589	chr2:100090144-100090145	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs367565570	chr2:100090148-100090149	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532610295	chr2:100090165-100090166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143934374	chr2:100090196-100090197	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557178557	chr2:100090206-100090207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375775490	chr2:100090220-100090221	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs58766196	chr2:100090226-100090227	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183754197	chr2:100090281-100090282	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572487383	chr2:100090310-100090311	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373644274	chr2:100090312-100090313	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534822003	chr2:100090314-100090315	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569044756	chr2:100090350-100090351	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188154122	chr2:100090377-100090378	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146839808	chr2:100090425-100090426	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182417820	chr2:100090457-100090458	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543619705	chr2:100090466-100090467	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563977582	chr2:100090482-100090483	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574264981	chr2:100090554-100090555	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1204 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100048200-100090600	Weak transcription	Stomach Mucosa	stomach
2	chr2:100055800-100092600	Weak transcription	Gastric	stomach
3	chr2:100056600-100091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:100073400-100090000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:100075200-100090400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:100075200-100103000	Weak transcription	Hela-S3	cervix
7	chr2:100076200-100098400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:100076600-100094800	Weak transcription	Spleen	Spleen
10	chr2:100076600-100104200	Weak transcription	NHLF	lung
11	chr2:100078600-100091000	Weak transcription	Aorta	Aorta
12	chr2:100078600-100091000	Weak transcription	Lung	lung
13	chr2:100078600-100092200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:100078600-100092600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:100078600-100096800	Weak transcription	NH-A	brain
16	chr2:100078800-100090000	Weak transcription	HUVEC	blood vessel
17	chr2:100078800-100090200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:100078800-100090600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:100078800-100091000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:100078800-100091400	Weak transcription	Adipose Nuclei	Adipose
21	chr2:100078800-100091800	Weak transcription	Fetal Kidney	kidney
22	chr2:100078800-100093200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:100078800-100101400	Weak transcription	Fetal Lung	lung
24	chr2:100078800-100103000	Weak transcription	Primary B cells from cord blood	blood
25	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:100079000-100090000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:100079000-100091400	Weak transcription	Osteobl	bone
28	chr2:100079000-100091600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:100079200-100090200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:100079200-100091000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:100079200-100091600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:100079200-100092000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr2:100079200-100092600	Weak transcription	Placenta	Placenta
34	chr2:100079200-100093000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:100079200-100096600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:100079200-100098400	Weak transcription	NHDF-Ad	bronchial
37	chr2:100079200-100104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:100080200-100091000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:100080400-100089400	Weak transcription	Fetal Thymus	thymus
40	chr2:100080400-100090000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:100080400-100103200	Weak transcription	Fetal Stomach	stomach
42	chr2:100080600-100098000	Weak transcription	Dnd41	blood
43	chr2:100080800-100103200	Weak transcription	HSMM	muscle
44	chr2:100081200-100092400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:100084200-100090000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:100085200-100091600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:100085600-100090400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:100085600-100103000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:100086000-100090600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:100086000-100102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links