Variant report

Variant	nsv961841
Chromosome Location	chr2:98437476-98446329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98442920-98442929	GM12878	blood:	n/a	n/a
2	CTCF	chr2:98442848-98442945	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr2:98442953-98442976	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr2:98439620-98439770	GM12872	blood:	n/a	n/a
5	CTCF	chr2:98442876-98442978	GM10266	blood:	n/a	n/a
6	FOSL1	chr2:98438351-98438668	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOSL1	chr2:98438329-98438658	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA1	chr2:98442486-98443171	PBDE	blood:	n/a	n/a
9	HEY1	chr2:98438274-98438481	HepG2	liver:	n/a	n/a
10	HEY1	chr2:98438229-98438479	HepG2	liver:	n/a	n/a
11	HEY1	chr2:98438877-98439075	HepG2	liver:	n/a	n/a
12	MAFF	chr2:98445702-98446107	HepG2	liver:	n/a	chr2:98445889-98445907 chr2:98445914-98445932
13	MAFF	chr2:98437628-98437814	HepG2	liver:	n/a	n/a
14	MAFK	chr2:98445725-98446102	HepG2	liver:	n/a	chr2:98445915-98445930 chr2:98445890-98445905
15	MAFK	chr2:98445608-98446191	HepG2	liver:	n/a	chr2:98445915-98445930 chr2:98445890-98445905
16	MAFK	chr2:98445744-98446100	IMR90	lung:	n/a	chr2:98445915-98445930 chr2:98445890-98445905
17	MAFK	chr2:98439530-98439606	HepG2	liver:	n/a	n/a
18	MAFK	chr2:98437608-98437891	HepG2	liver:	n/a	chr2:98437677-98437692 chr2:98437714-98437729
19	MAFK	chr2:98437689-98437797	HepG2	liver:	n/a	chr2:98437714-98437729
20	NANOG	chr2:98439136-98439352	H1-hESC	embryonic stem cell:	n/a	n/a
21	NFYA	chr2:98437512-98437829	K562	blood:	n/a	chr2:98437674-98437692
22	NFYB	chr2:98437502-98437962	K562	blood:	n/a	n/a
23	NFYB	chr2:98445643-98446167	K562	blood:	n/a	n/a
24	NFYB	chr2:98445717-98446202	GM12878	blood:	n/a	n/a
25	NFYB	chr2:98437517-98437876	GM12878	blood:	n/a	n/a
26	PAX5	chr2:98442359-98442626	GM12878	blood:	n/a	n/a
27	PAX5	chr2:98442342-98442607	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:98444395-98444574	GM12891	blood:	n/a	n/a
29	POLR2A	chr2:98438271-98438436	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:98442131-98442149	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr2:98443573-98443681	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:98438233-98438496	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:98444208-98444703	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:98443586-98443658	A549	lung:	n/a	n/a
35	POLR2A	chr2:98443617-98444658	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr2:98438936-98439065	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:98438271-98438415	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:98443709-98444159	GM12878	blood:	n/a	n/a
39	RAD21	chr2:98442816-98443036	GM12878	blood:	n/a	n/a
40	SP1	chr2:98445617-98445917	GM12878	blood:	n/a	n/a
41	SPI1	chr2:98442973-98443162	K562	blood:	n/a	n/a
42	SPI1	chr2:98442958-98443156	K562	blood:	n/a	n/a
43	SPI1	chr2:98442762-98443329	HL-60	blood:	n/a	n/a
44	SPI1	chr2:98442876-98443223	HL-60	blood:	n/a	n/a
45	SPI1	chr2:98442902-98443204	GM12878	blood:	n/a	n/a
46	SPI1	chr2:98443009-98443130	GM12878	blood:	n/a	n/a
47	SPI1	chr2:98442889-98443239	GM12891	blood:	n/a	n/a
48	TAL1	chr2:98442679-98442953	K562	blood:	n/a	n/a
49	TCF12	chr2:98444417-98444557	GM12878	blood:	n/a	n/a
50	ZNF143	chr2:98438382-98438688	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98443665-98443715	SK-N-SH_RA	brain:	n/a
2	chr2:98443665-98443715	HL-60	blood:	n/a
3	chr2:98443701-98443751	HIPEpiC	eye:	n/a
4	chr2:98443665-98443715	NH-A	brain:	n/a
5	chr2:98443665-98443715	Caco-2	colon:	n/a
6	chr2:98443701-98443751	AG04449	skin:	fetal
7	chr2:98443701-98443751	SK-N-SH	brain:	n/a
8	chr2:98443775-98443825	AG04449	skin:	fetal
9	chr2:98443701-98443751	RPTEC	kidney:	n/a
10	chr2:98443701-98443751	GM12878	blood:	n/a
11	chr2:98443665-98443715	PFSK-1	brain:	n/a
12	chr2:98443775-98443825	ovcar-3	ovarian:	n/a
13	chr2:98443665-98443715	HRCEpiC	kidney:	n/a
14	chr2:98443701-98443751	HCT-116	colon:	n/a
15	chr2:98443665-98443715	MCF-7	breast:	n/a
16	chr2:98443665-98443715	HRE	kidney:	n/a
17	chr2:98443701-98443751	NH-A	brain:	n/a
18	chr2:98443665-98443715	AoSMC	blood vessel:	n/a
19	chr2:98443665-98443715	K562	blood:	n/a
20	chr2:98443775-98443825	BJ	skin:	n/a
21	chr2:98443701-98443751	NHDF-neo	bronchial:	n/a
22	chr2:98443775-98443825	LNCaP	prostate:	n/a
23	chr2:98443665-98443715	HEK293	kidney:	embryo
24	chr2:98443701-98443751	Hepatocyte	liver:	n/a
25	chr2:98443665-98443715	AG09319	gingival:	n/a
26	chr2:98443665-98443715	AG04449	skin:	fetal
27	chr2:98443701-98443751	Jurkat	blood:	n/a
28	chr2:98443701-98443751	NB4	blood:	n/a
29	chr2:98443701-98443751	HEK293	kidney:	embryo
30	chr2:98443665-98443715	AG10803	skin:	n/a
31	chr2:98443665-98443715	T-47D	breast:	n/a
32	chr2:98443701-98443751	HAEpiC	amniotic membrane:	n/a
33	chr2:98443665-98443715	GM12878	blood:	n/a
34	chr2:98443665-98443715	AG09309	skin:	n/a
35	chr2:98443775-98443825	GM06990	blood:	n/a
36	chr2:98443775-98443825	BE2_C	brain:	n/a
37	chr2:98443701-98443751	MCF10A-Er-Src	breast:	n/a
38	chr2:98443775-98443825	NB4	blood:	n/a
39	chr2:98443775-98443825	T-47D	breast:	n/a
40	chr2:98443701-98443751	HNPCEpiC	eye:	n/a
41	chr2:98443775-98443825	Hela-S3	cervix:	n/a
42	chr2:98443775-98443825	H1-hESC	embryonic stem cell:	embryo
43	chr2:98443665-98443715	Hela-S3	cervix:	n/a
44	chr2:98443701-98443751	HEEpiC	esophagus:	n/a
45	chr2:98443775-98443825	IMR90	lung:	fetal
46	chr2:98443701-98443751	Hela-S3	cervix:	n/a
47	chr2:98443775-98443825	HEK293	kidney:	embryo
48	chr2:98443665-98443715	HNPCEpiC	eye:	n/a
49	chr2:98443775-98443825	NH-A	brain:	n/a
50	chr2:98443665-98443715	HCF	heart:	n/a

No data

Variant related genes	Relation type
HMGN1P36	TF binding region
HMGN1P36	CpG island

Extended variants
information (count: 341 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:341 , 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	rs562434379	chr2:98437480-98437481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527966156	chr2:98437520-98437521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569379593	chr2:98437524-98437525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138449770	chr2:98437559-98437560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564442937	chr2:98437653-98437654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149279103	chr2:98437729-98437730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550256797	chr2:98437743-98437744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570154150	chr2:98437787-98437788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538083918	chr2:98437791-98437792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185990609	chr2:98437803-98437804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568377939	chr2:98437809-98437810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533818648	chr2:98437842-98437843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553733189	chr2:98437843-98437844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570075513	chr2:98437844-98437845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72946453	chr2:98437881-98437882	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190706978	chr2:98437898-98437899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575712036	chr2:98437926-98437927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542447183	chr2:98437936-98437937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113441582	chr2:98437973-98437974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562445557	chr2:98438014-98438015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183222817	chr2:98438015-98438016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113252179	chr2:98438051-98438052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574820238	chr2:98438061-98438062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72942819	chr2:98438078-98438079	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533405053	chr2:98438093-98438094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116488371	chr2:98438113-98438114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527621077	chr2:98438114-98438115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563799550	chr2:98438120-98438121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560137100	chr2:98438132-98438133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529353160	chr2:98438135-98438136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548379754	chr2:98438137-98438138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568116092	chr2:98438163-98438164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143682202	chr2:98438211-98438212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186487544	chr2:98438238-98438239	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570411506	chr2:98438254-98438255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539076393	chr2:98438255-98438256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191018396	chr2:98438262-98438263	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147221211	chr2:98438291-98438292	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55887737	chr2:98438326-98438327	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555927812	chr2:98438343-98438344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572503549	chr2:98438375-98438376	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541603028	chr2:98438396-98438397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558533784	chr2:98438445-98438446	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs116494940	chr2:98438449-98438450	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs543871591	chr2:98438453-98438454	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182733233	chr2:98438477-98438478	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529392757	chr2:98438488-98438489	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs375926574	chr2:98438520-98438521	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs186690941	chr2:98438555-98438556	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559789295	chr2:98438577-98438578	Weak transcription Enhancers Strong transcription ZNF genes & repeats	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
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
4	chr2:98406400-98469200	Weak transcription	A549	lung
5	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
6	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
7	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
8	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
9	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
12	chr2:98422000-98456200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:98424000-98438600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:98424000-98442600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:98424000-98446800	Weak transcription	Fetal Heart	heart
16	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:98424200-98461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:98425600-98456800	Weak transcription	Esophagus	oesophagus
19	chr2:98425600-98461000	Weak transcription	Brain Germinal Matrix	brain
20	chr2:98426000-98445400	Weak transcription	Gastric	stomach
21	chr2:98426000-98456800	Weak transcription	Right Ventricle	heart
22	chr2:98426200-98456800	Weak transcription	Pancreas	Pancrea
23	chr2:98426400-98456200	Weak transcription	NHEK	skin
24	chr2:98426400-98456800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:98428000-98466600	Weak transcription	K562	blood
26	chr2:98428200-98456600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:98428400-98447400	Weak transcription	Psoas Muscle	Psoas
28	chr2:98428600-98447400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:98428600-98448800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:98428600-98456000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:98428600-98456600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:98428600-98461200	Weak transcription	Fetal Brain Male	brain
33	chr2:98428600-98464600	Weak transcription	HSMMtube	muscle
34	chr2:98428800-98437600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:98428800-98485000	Weak transcription	NHLF	lung
36	chr2:98429000-98438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:98429000-98470600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:98429200-98438400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:98429200-98448600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:98429200-98448800	Weak transcription	Fetal Kidney	kidney
41	chr2:98429200-98456600	Weak transcription	Fetal Lung	lung
42	chr2:98429800-98439400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:98430000-98467800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:98430200-98438600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:98430200-98445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:98430600-98456200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:98430600-98456800	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:98430800-98438000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:98430800-98439000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:98430800-98445400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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