Variant report

Variant	nsv820699
Chromosome Location	chr2:98146258-98156729
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	chr2:98149997-98150060	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr2:98148381-98148515	GM13976	blood:	n/a	n/a
3	CTCF	chr2:98155511-98155562	Pancreas_OC	pancreas:	n/a	n/a
4	CTCF	chr2:98150890-98150978	Medullo	brain:	n/a	n/a
5	CTCF	chr2:98150167-98150228	GM13977	blood:	n/a	n/a
6	MAFK	chr2:98156046-98156141	K562	blood:	n/a	n/a
7	POLR2A	chr2:98153270-98153358	ProgFib	skin:	n/a	n/a
8	POLR2A	chr2:98152282-98152466	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000235833	TF binding region

Extended variants
information (count: 293 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370138955	chr2:98146345-98146346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564965384	chr2:98146422-98146423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185514859	chr2:98146444-98146445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9941712	chr2:98146463-98146464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561471506	chr2:98146471-98146472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530416969	chr2:98146480-98146481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547360369	chr2:98146482-98146483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566852928	chr2:98146487-98146488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532565468	chr2:98146529-98146530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202240812	chr2:98146534-98146535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199846519	chr2:98146549-98146550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9941543	chr2:98146599-98146600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569298444	chr2:98146762-98146763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs193158909	chr2:98146823-98146824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369748821	chr2:98146828-98146829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567169293	chr2:98146854-98146855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374130204	chr2:98146905-98146906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536125801	chr2:98146962-98146963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552877955	chr2:98147015-98147016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573077767	chr2:98147027-98147028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538596348	chr2:98147043-98147044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200882532	chr2:98147189-98147190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558279597	chr2:98147205-98147206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377193220	chr2:98147214-98147215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201849008	chr2:98147248-98147249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370372002	chr2:98147373-98147374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200365406	chr2:98147455-98147456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373107591	chr2:98147502-98147503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544371456	chr2:98147570-98147571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376276116	chr2:98147582-98147583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561460954	chr2:98147599-98147600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370074123	chr2:98147639-98147640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368601532	chr2:98147657-98147658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111598547	chr2:98147665-98147666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370770511	chr2:98147681-98147682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374143011	chr2:98147697-98147698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202020534	chr2:98147721-98147722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200473897	chr2:98147765-98147766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368076814	chr2:98147785-98147786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371603113	chr2:98147791-98147792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201502384	chr2:98147793-98147794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540904223	chr2:98147797-98147798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560808236	chr2:98147803-98147804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199811443	chr2:98147815-98147816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532707890	chr2:98147816-98147817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200547247	chr2:98147817-98147818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190280023	chr2:98147819-98147820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180845404	chr2:98147830-98147831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531690605	chr2:98147851-98147852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185498088	chr2:98147925-98147926	Weak 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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98152800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
3	chr2:98141800-98161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:98142800-98153200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:98142800-98155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:98142800-98155800	Weak transcription	Fetal Brain Female	brain
9	chr2:98142800-98156000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:98142800-98162200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:98143400-98154000	Weak transcription	Ovary	ovary
16	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:98144200-98156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:98144600-98146600	Weak transcription	Primary T cells from cord blood	blood
20	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
21	chr2:98146600-98147000	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr2:98147000-98148000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:98147000-98155200	Weak transcription	Primary T cells from cord blood	blood
24	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:98148000-98148400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:98148400-98151200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:98149600-98167600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:98150400-98155800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:98151200-98151800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:98151600-98162200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:98151600-98165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:98151800-98153800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:98151800-98165400	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:98152000-98162600	Weak transcription	Fetal Lung	lung
35	chr2:98152000-98163200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:98152400-98162600	Weak transcription	Adipose Nuclei	Adipose
37	chr2:98152400-98162600	Weak transcription	Fetal Thymus	thymus
38	chr2:98152600-98155800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:98152600-98163600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:98152800-98158400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:98152800-98163800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:98153000-98166800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:98153200-98157000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:98153800-98156400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:98153800-98167200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:98154000-98156400	Strong transcription	Ovary	ovary
49	chr2:98154200-98162000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:98154200-98165400	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links