Variant report

Variant	esv3528799
Chromosome Location	chr2:98160370-98163468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98163240-98163390	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr2:98163380-98163530	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr2:98163264-98163379	HUVEC	blood vessel:	n/a	n/a
4	FOS	chr2:98163304-98163495	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
5	FOS	chr2:98163202-98163548	HUVEC	blood vessel:	n/a	chr2:98163350-98163361
6	FOS	chr2:98163314-98163475	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
7	JUN	chr2:98163213-98163523	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr2:98162801-98162877	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ANKRD36B	TF binding region

Extended variants
information (count: 144 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200033395	chr2:98160442-98160443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541842902	chr2:98160483-98160484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562005935	chr2:98160666-98160667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572509842	chr2:98160667-98160668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540004175	chr2:98160700-98160701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560340440	chr2:98160713-98160714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368897684	chr2:98160747-98160748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111848823	chr2:98160773-98160774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191163810	chr2:98160820-98160821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183571003	chr2:98160851-98160852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552535263	chr2:98160868-98160869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562447564	chr2:98160921-98160922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2442253	chr2:98161006-98161007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2442254	chr2:98161070-98161071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531308480	chr2:98161076-98161077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548186082	chr2:98161115-98161116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117811208	chr2:98161211-98161212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376662643	chr2:98161279-98161280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72545183	chr2:98161282-98161283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533889756	chr2:98161299-98161300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188550635	chr2:98161300-98161301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570752664	chr2:98161329-98161330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539722109	chr2:98161363-98161364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556412319	chr2:98161398-98161399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576343536	chr2:98161506-98161507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1979104	chr2:98161531-98161532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193167033	chr2:98161543-98161544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184572001	chr2:98161554-98161555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111282902	chr2:98161704-98161705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541553435	chr2:98161716-98161717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560075542	chr2:98161782-98161783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140269508	chr2:98161783-98161784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377564459	chr2:98161807-98161808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79289821	chr2:98161828-98161829	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187097727	chr2:98161836-98161837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112893296	chr2:98161894-98161895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546044559	chr2:98161911-98161912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370558316	chr2:98161954-98161955	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375181324	chr2:98161957-98161958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367771978	chr2:98161960-98161961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562740616	chr2:98161963-98161964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531648324	chr2:98161975-98161976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547829042	chr2:98161986-98161987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561771333	chr2:98161987-98161988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112192706	chr2:98162023-98162024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141301195	chr2:98162026-98162027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570327383	chr2:98162046-98162047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570232944	chr2:98162050-98162051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191152852	chr2:98162054-98162055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369126728	chr2:98162097-98162098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
2	chr2:98141800-98161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:98142800-98162200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:98149600-98167600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:98151600-98162200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:98151600-98165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:98151800-98165400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:98152000-98162600	Weak transcription	Fetal Lung	lung
19	chr2:98152000-98163200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:98152400-98162600	Weak transcription	Adipose Nuclei	Adipose
21	chr2:98152400-98162600	Weak transcription	Fetal Thymus	thymus
22	chr2:98152600-98163600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:98152800-98163800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:98153000-98166800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:98153800-98167200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:98154200-98162000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:98154200-98165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:98154200-98168000	Weak transcription	Fetal Intestine Large	intestine
31	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
32	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
33	chr2:98154400-98166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:98154600-98162600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:98154800-98162600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:98154800-98169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:98154800-98174800	Weak transcription	Placenta	Placenta
38	chr2:98155200-98176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:98155400-98162600	Weak transcription	Primary T cells from cord blood	blood
40	chr2:98155400-98165200	Weak transcription	Liver	Liver
41	chr2:98155800-98162600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:98156200-98161600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:98156200-98161600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:98156200-98205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:98156400-98161400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:98156400-98162000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:98156400-98164200	Weak transcription	Fetal Brain Female	brain
48	chr2:98156400-98165000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:98156400-98168000	Weak transcription	Ovary	ovary
50	chr2:98156800-98168000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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