Variant report

Variant	esv3321809
Chromosome Location	chr2:97559875-97561323
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	ARID3A	chr2:97560767-97561191	K562	blood:	n/a	n/a
2	BHLHE40	chr2:97559703-97559928	K562	blood:	n/a	n/a
3	BHLHE40	chr2:97560766-97561389	K562	blood:	n/a	n/a
4	CBX3	chr2:97560740-97561220	K562	blood:	n/a	n/a
5	CBX3	chr2:97560634-97561364	K562	blood:	n/a	n/a
6	CCNT2	chr2:97560755-97561372	K562	blood:	n/a	chr2:97561146-97561155
7	CEBPB	chr2:97560736-97561181	K562	blood:	n/a	n/a
8	CEBPB	chr2:97560778-97561237	K562	blood:	n/a	n/a
9	CEBPD	chr2:97560672-97561287	K562	blood:	n/a	n/a
10	CEBPD	chr2:97560641-97561296	K562	blood:	n/a	n/a
11	CHD2	chr2:97560725-97561535	K562	blood:	n/a	n/a
12	CTCF	chr2:97560677-97560886	T-47D	breast:	n/a	n/a
13	CUX1	chr2:97560761-97561267	K562	blood:	n/a	n/a
14	E2F6	chr2:97561093-97561304	K562	blood:	n/a	n/a
15	E2F6	chr2:97560649-97561094	K562	blood:	n/a	chr2:97560863-97560874
16	E2F6	chr2:97560726-97560902	K562	blood:	n/a	chr2:97560863-97560874
17	E2F6	chr2:97560617-97561755	H1-hESC	embryonic stem cell:	n/a	chr2:97560863-97560874
18	E2F6	chr2:97560662-97561585	K562	blood:	n/a	chr2:97560863-97560874
19	EGR1	chr2:97560856-97561195	K562	blood:	n/a	n/a
20	EGR1	chr2:97559878-97560767	K562	blood:	n/a	n/a
21	EGR1	chr2:97559824-97560820	K562	blood:	n/a	n/a
22	ELK1	chr2:97559928-97560021	K562	blood:	n/a	n/a
23	EP300	chr2:97560781-97561281	K562	blood:	n/a	n/a
24	EP300	chr2:97560675-97561645	K562	blood:	n/a	chr2:97561402-97561415
25	EP300	chr2:97560889-97561191	GM12878	blood:	n/a	n/a
26	FOS	chr2:97561129-97561726	MCF10A-Er-Src	breast:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564
27	FOS	chr2:97560974-97561112	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:97561253-97561736	MCF10A-Er-Src	breast:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564
29	FOSL2	chr2:97561202-97561857	MCF-7	breast:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564
30	GATA1	chr2:97560650-97561599	PBDE	blood:	n/a	n/a
31	GATA1	chr2:97560619-97562368	K562	blood:	n/a	n/a
32	GATA2	chr2:97560715-97561222	K562	blood:	n/a	n/a
33	GATA2	chr2:97560683-97561252	K562	blood:	n/a	n/a
34	GATA2	chr2:97560709-97561273	K562	blood:	n/a	n/a
35	GATA3	chr2:97561184-97561981	MCF-7	breast:	n/a	n/a
36	GTF2F1	chr2:97560723-97561467	K562	blood:	n/a	n/a
37	HCFC1	chr2:97560841-97561299	K562	blood:	n/a	n/a
38	HDAC2	chr2:97560936-97561616	K562	blood:	n/a	n/a
39	HDAC2	chr2:97560585-97560899	K562	blood:	n/a	n/a
40	HEY1	chr2:97560613-97560944	K562	blood:	n/a	n/a
41	HMGN3	chr2:97560874-97561933	K562	blood:	n/a	chr2:97561554-97561563
42	IRF1	chr2:97560707-97561310	K562	blood:	n/a	n/a
43	IRF1	chr2:97560693-97561348	K562	blood:	n/a	n/a
44	IRF1	chr2:97559797-97559999	K562	blood:	n/a	n/a
45	IRF1	chr2:97560864-97561194	K562	blood:	n/a	n/a
46	JUN	chr2:97560596-97562775	K562	blood:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564
47	JUND	chr2:97559719-97560004	K562	blood:	n/a	n/a
48	JUND	chr2:97560712-97561721	K562	blood:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564
49	MAFF	chr2:97560836-97561259	K562	blood:	n/a	n/a
50	MAFF	chr2:97559955-97559979	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97545881..97548014-chr2:97558703..97560346,2	K562	blood:
2	chr2:97530555..97533487-chr2:97558228..97559890,3	K562	blood:
3	chr2:97522291..97526078-chr2:97561305..97564829,3	K562	blood:
4	chr2:97557540..97561219-chr2:97615825..97618671,3	MCF-7	breast:
5	chr2:97481114..97483138-chr2:97559703..97563563,4	MCF-7	breast:
6	chr2:97530555..97532219-chr2:97558372..97559890,2	K562	blood:
7	chr2:97558219..97561795-chr2:97617145..97620359,3	K562	blood:
8	chr2:97557941..97560811-chr2:97624763..97627667,2	MCF-7	breast:
9	chr2:97531702..97533612-chr2:97560749..97562713,2	K562	blood:

Variant related genes	Relation type
FAM178B	TF binding region
ENSG00000168758	chromatin interactions
ENSG00000168754	chromatin interactions
ENSG00000168763	chromatin interactions
ENSG00000213337	chromatin interactions
ENSG00000163126	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565767321	chr2:97559926-97559927	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374140903	chr2:97559946-97559947	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528275707	chr2:97559984-97559985	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551253594	chr2:97560022-97560023	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571430629	chr2:97560031-97560032	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537100486	chr2:97560034-97560035	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556976624	chr2:97560057-97560058	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551229029	chr2:97560059-97560060	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs57675226	chr2:97560137-97560138	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111608917	chr2:97560157-97560158	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186552734	chr2:97560164-97560165	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150671924	chr2:97560230-97560231	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553613273	chr2:97560234-97560235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139857959	chr2:97560263-97560264	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191328602	chr2:97560402-97560403	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs57632006	chr2:97560450-97560451	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183843349	chr2:97560490-97560491	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
18	rs558098103	chr2:97560573-97560574	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568482485	chr2:97560625-97560626	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs13421275	chr2:97560629-97560630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368042394	chr2:97560661-97560662	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371962076	chr2:97560678-97560679	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs577818919	chr2:97560684-97560685	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375861410	chr2:97560703-97560704	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs80341479	chr2:97560801-97560802	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs563321472	chr2:97560812-97560813	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs372669788	chr2:97560834-97560835	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs542591597	chr2:97560842-97560843	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs559616510	chr2:97560869-97560870	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs189208296	chr2:97560909-97560910	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs4907206	chr2:97560913-97560914	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192869401	chr2:97560944-97560945	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs79049408	chr2:97560962-97560963	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs551556680	chr2:97561031-97561032	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs144834340	chr2:97561075-97561076	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs185388521	chr2:97561083-97561084	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs550638729	chr2:97561100-97561101	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs529549762	chr2:97561106-97561107	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs541618670	chr2:97561107-97561108	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs140344512	chr2:97561144-97561145	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs536663569	chr2:97561145-97561146	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs546648633	chr2:97561147-97561148	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs537910000	chr2:97561204-97561205	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs144212173	chr2:97561218-97561219	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs147762702	chr2:97561254-97561255	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs575909683	chr2:97561293-97561294	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97552600-97560800	Weak transcription	Hela-S3	cervix
2	chr2:97554200-97560800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:97554400-97561000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:97554400-97563400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:97554600-97563400	Weak transcription	Fetal Heart	heart
6	chr2:97554800-97561200	Weak transcription	Fetal Brain Female	brain
7	chr2:97555000-97560800	Weak transcription	Fetal Brain Male	brain
8	chr2:97555000-97561200	Weak transcription	Pancreas	Pancrea
9	chr2:97556000-97560000	Transcr. at gene 5' and 3'	K562	blood
10	chr2:97556000-97560200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:97556000-97560200	Enhancers	Brain Hippocampus Middle	brain
12	chr2:97556000-97562200	Enhancers	Brain Anterior Caudate	brain
13	chr2:97556200-97560000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:97556200-97560000	Enhancers	Psoas Muscle	Psoas
15	chr2:97556200-97560200	Enhancers	Primary T cells from cord blood	blood
16	chr2:97556200-97560200	Enhancers	Brain Angular Gyrus	brain
17	chr2:97556200-97560200	Enhancers	Brain Substantia Nigra	brain
18	chr2:97556200-97562200	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:97556200-97562400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:97556400-97560200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:97556400-97565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:97556600-97566000	Enhancers	Fetal Thymus	thymus
23	chr2:97556800-97562600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:97557000-97561000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:97557200-97560000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr2:97557200-97561200	Weak transcription	Thymus	Thymus
27	chr2:97557400-97560800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:97557400-97560800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:97557400-97561000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:97557400-97561000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:97557600-97560800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:97557600-97561000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:97557600-97561000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:97557600-97561200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:97557600-97561200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:97557800-97560200	Enhancers	Placenta	Placenta
37	chr2:97557800-97560800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:97557800-97560800	Weak transcription	Small Intestine	intestine
39	chr2:97557800-97560800	Weak transcription	A549	lung
40	chr2:97557800-97561000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:97557800-97561200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:97557800-97561200	Weak transcription	Gastric	stomach
43	chr2:97557800-97561200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:97557800-97563200	Weak transcription	Osteobl	bone
45	chr2:97558000-97560800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:97558000-97560800	Weak transcription	Fetal Intestine Small	intestine
47	chr2:97558000-97560800	Weak transcription	HSMMtube	muscle
48	chr2:97558000-97561000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:97558000-97561000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:97558000-97561200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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