Variant report

Variant	esv3506993
Chromosome Location	chr2:98543670-98548968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98543155..98545618-chr2:98548793..98550382,2	MCF-7	breast:
2	chr2:98497589..98500393-chr2:98543704..98546124,2	MCF-7	breast:
3	chr2:98534774..98536748-chr2:98541318..98544252,2	MCF-7	breast:
4	chr2:98543155..98545618-chr2:98548793..98550382,2	MCF-7	breast:
5	chr2:98542063..98544136-chr2:98610623..98612619,2	K562	blood:

Variant related genes	Relation type
ENSG00000075568	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188147475	chr2:98543679-98543680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577139360	chr2:98543710-98543711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546114984	chr2:98543723-98543724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554885709	chr2:98543724-98543725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563464460	chr2:98543837-98543838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369771599	chr2:98543841-98543842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375188441	chr2:98543868-98543869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530820778	chr2:98543915-98543916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531642586	chr2:98543917-98543918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149366039	chr2:98543945-98543946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs180686118	chr2:98543946-98543947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371773201	chr2:98543949-98543950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527754912	chr2:98543961-98543962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184512725	chr2:98543973-98543974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34126874	chr2:98543985-98543986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370315954	chr2:98543989-98543990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116369039	chr2:98544009-98544010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561016128	chr2:98544036-98544037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6707719	chr2:98544058-98544059	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373148448	chr2:98544125-98544126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569168444	chr2:98544183-98544184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146330047	chr2:98544186-98544187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577426730	chr2:98544208-98544209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554509403	chr2:98544274-98544275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568077315	chr2:98544325-98544326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533855596	chr2:98544334-98544335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369257263	chr2:98544339-98544340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139649959	chr2:98544375-98544376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190248307	chr2:98544377-98544378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577064717	chr2:98544394-98544395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113920941	chr2:98544411-98544412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545985878	chr2:98544481-98544482	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556443953	chr2:98544494-98544495	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576288833	chr2:98544505-98544506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1466924	chr2:98544528-98544529	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs542851447	chr2:98544561-98544562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562088669	chr2:98544600-98544601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527665278	chr2:98544603-98544604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377318768	chr2:98544650-98544651	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182472979	chr2:98544681-98544682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142742191	chr2:98544753-98544754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146072496	chr2:98544771-98544772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186653262	chr2:98544777-98544778	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569180669	chr2:98544784-98544785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531598921	chr2:98544793-98544794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566099458	chr2:98544802-98544803	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190766674	chr2:98544806-98544807	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568074150	chr2:98544826-98544827	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533537612	chr2:98544875-98544876	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539476328	chr2:98545026-98545027	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98504600-98552200	Weak transcription	NHLF	lung
2	chr2:98520200-98546000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:98520200-98552200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:98520600-98550600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:98523400-98545800	Weak transcription	Fetal Kidney	kidney
6	chr2:98523400-98546200	Weak transcription	HUVEC	blood vessel
7	chr2:98524600-98552600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:98524800-98552200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:98525000-98551600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:98525200-98547400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:98525600-98548200	Weak transcription	Pancreas	Pancrea
12	chr2:98528600-98550600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:98529000-98552200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:98531000-98552400	Weak transcription	Right Atrium	heart
15	chr2:98531200-98552200	Weak transcription	Fetal Thymus	thymus
16	chr2:98531600-98546000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:98531600-98548200	Weak transcription	K562	blood
18	chr2:98533000-98547600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:98533800-98546000	Weak transcription	Fetal Heart	heart
20	chr2:98533800-98552000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:98534200-98547600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:98534200-98551600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:98535600-98545600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:98535600-98546000	Weak transcription	Brain Anterior Caudate	brain
25	chr2:98536600-98545200	Weak transcription	Psoas Muscle	Psoas
26	chr2:98536800-98544200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:98536800-98545000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:98538600-98546000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:98538800-98548200	Weak transcription	Gastric	stomach
30	chr2:98538800-98552400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:98539000-98551600	Weak transcription	A549	lung
32	chr2:98539200-98546000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:98539400-98545000	Weak transcription	Brain Germinal Matrix	brain
34	chr2:98541000-98546400	Weak transcription	Stomach Mucosa	stomach
35	chr2:98541200-98546000	Weak transcription	Spleen	Spleen
36	chr2:98541200-98552400	Weak transcription	Esophagus	oesophagus
37	chr2:98541400-98552200	Weak transcription	NHEK	skin
38	chr2:98541600-98544000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:98541600-98544000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:98541600-98550400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:98541600-98552400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:98541600-98552400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:98541600-98552400	Weak transcription	Aorta	Aorta
44	chr2:98541600-98552400	Weak transcription	Lung	lung
45	chr2:98541800-98547400	Weak transcription	Fetal Intestine Small	intestine
46	chr2:98541800-98552400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:98542000-98546000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:98542000-98546000	Weak transcription	Adipose Nuclei	Adipose
49	chr2:98542000-98546000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:98542000-98546000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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