Variant report

Variant	nsv10100
Chromosome Location	chr2:98141637-98152174
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	chr2:98148381-98148515	GM13976	blood:	n/a	n/a
2	CTCF	chr2:98150167-98150228	GM13977	blood:	n/a	n/a
3	CTCF	chr2:98150890-98150978	Medullo	brain:	n/a	n/a
4	CTCF	chr2:98149997-98150060	Kidney_OC	kidney:	n/a	n/a
5	FOXA1	chr2:98142240-98142419	T-47D	breast:	n/a	n/a
6	FOXA2	chr2:98142232-98142551	A549	lung:	n/a	n/a
7	FOXA2	chr2:98142097-98142627	A549	lung:	n/a	n/a
8	SPI1	chr2:98145986-98146125	K562	blood:	n/a	n/a
9	SPI1	chr2:98145991-98146113	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000235833	TF binding region

Extended variants
information (count: 311 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184233610	chr2:98141643-98141644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539512149	chr2:98141716-98141717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188295280	chr2:98141724-98141725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180912406	chr2:98141750-98141751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368632293	chr2:98141851-98141852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535626267	chr2:98141855-98141856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs6719995	chr2:98141897-98141898	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184606511	chr2:98141935-98141936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561343819	chr2:98141981-98141982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541325420	chr2:98141984-98141985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs557724923	chr2:98142009-98142010	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577988521	chr2:98142068-98142069	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543883068	chr2:98142077-98142078	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563657217	chr2:98142082-98142083	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201844880	chr2:98142088-98142089	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528660737	chr2:98142124-98142125	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs144860324	chr2:98142171-98142172	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs139417751	chr2:98142178-98142179	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189346203	chr2:98142199-98142200	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs542011334	chr2:98142324-98142325	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs111669195	chr2:98142362-98142363	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs111975554	chr2:98142387-98142388	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201678497	chr2:98142398-98142399	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs371722957	chr2:98142406-98142407	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561867654	chr2:98142407-98142408	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs374899171	chr2:98142447-98142448	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs527581314	chr2:98142491-98142492	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547756108	chr2:98142503-98142504	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369300848	chr2:98142555-98142556	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs372375789	chr2:98142588-98142589	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs570412101	chr2:98142609-98142610	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs181511293	chr2:98142617-98142618	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187150743	chr2:98142618-98142619	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113581058	chr2:98142634-98142635	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375471356	chr2:98142635-98142636	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549771262	chr2:98142734-98142735	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569619646	chr2:98142801-98142802	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372585457	chr2:98142814-98142815	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191083343	chr2:98142904-98142905	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555491620	chr2:98143037-98143038	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565977301	chr2:98143053-98143054	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112628069	chr2:98143054-98143055	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377511596	chr2:98143059-98143060	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534975830	chr2:98143107-98143108	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181527227	chr2:98143125-98143126	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577946726	chr2:98143238-98143239	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532236228	chr2:98143244-98143245	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550316127	chr2:98143276-98143277	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143698805	chr2:98143345-98143346	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557339714	chr2:98143353-98143354	Weak transcription ZNF genes & repeats 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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98139000-98142000	Weak transcription	Fetal Brain Female	brain
2	chr2:98139600-98142400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:98140400-98141800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:98140400-98142000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:98140400-98142200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:98140600-98143800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:98140800-98142400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:98140800-98142400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:98140800-98152800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
11	chr2:98141200-98144800	Weak transcription	Thymus	Thymus
12	chr2:98141800-98144200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:98141800-98161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:98142000-98142800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:98142000-98142800	ZNF genes & repeats	Fetal Brain Female	brain
17	chr2:98142000-98142800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:98142200-98142400	Weak transcription	Brain Germinal Matrix	brain
20	chr2:98142200-98142800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:98142200-98142800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:98142200-98142800	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr2:98142200-98142800	ZNF genes & repeats	Lung	lung
24	chr2:98142400-98142800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:98142400-98142800	Strong transcription	Primary B cells from cord blood	blood
26	chr2:98142400-98142800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr2:98142400-98143600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:98142600-98143400	ZNF genes & repeats	Ovary	ovary
29	chr2:98142600-98144400	Weak transcription	Brain Germinal Matrix	brain
30	chr2:98142800-98153200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:98142800-98155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:98142800-98155800	Weak transcription	Fetal Brain Female	brain
33	chr2:98142800-98156000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:98142800-98162200	Weak transcription	Primary B cells from cord blood	blood
35	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:98143400-98154000	Weak transcription	Ovary	ovary
40	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:98143800-98144600	Strong transcription	Primary T cells from cord blood	blood
43	chr2:98144200-98156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:98144400-98144600	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr2:98144600-98146600	Weak transcription	Primary T cells from cord blood	blood
46	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
47	chr2:98146600-98147000	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr2:98147000-98148000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:98147000-98155200	Weak transcription	Primary T cells from cord blood	blood
50	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood

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