Variant report

Variant	esv2754881
Chromosome Location	chr2:97757526-97764426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:231)
CpG islands
(count:732)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:231 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:97760434-97760794	K562	blood:	n/a	n/a
2	BATF	chr2:97759887-97760164	GM12878	blood:	n/a	n/a
3	BATF	chr2:97760489-97760619	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:97759908-97760372	GM12878	blood:	n/a	n/a
5	BRCA1	chr2:97760435-97760807	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr2:97760424-97760767	K562	blood:	n/a	n/a
7	CHD2	chr2:97760599-97760634	Hela-S3	cervix:	n/a	n/a
8	CREB1	chr2:97760499-97760714	A549	lung:	n/a	n/a
9	CREB1	chr2:97760530-97760694	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr2:97760524-97760708	A549	lung:	n/a	n/a
11	CTCF	chr2:97759918-97759993	Fibrobl	skin:	n/a	n/a
12	CTCF	chr2:97759910-97760021	GM19239	blood:	n/a	n/a
13	CTCF	chr2:97760453-97760596	GM19239	blood:	n/a	n/a
14	CTCF	chr2:97759618-97760134	K562	blood:	n/a	n/a
15	CTCF	chr2:97761148-97761180	Spleen_OC	spleen:	n/a	chr2:97761161-97761174
16	CTCF	chr2:97761051-97761183	H1-hESC	embryonic stem cell:	n/a	chr2:97761161-97761174
17	CTCF	chr2:97759927-97759997	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr2:97761160-97761310	HepG2	liver:	n/a	chr2:97761161-97761174
19	CTCF	chr2:97761114-97761160	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr2:97761180-97761330	GM12875	blood:	n/a	n/a
21	CTCF	chr2:97759922-97759997	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:97761080-97761230	GM12873	blood:	n/a	chr2:97761161-97761174
23	CTCF	chr2:97760521-97760603	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr2:97760497-97760502	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:97761181-97761182	GM12878	blood:	n/a	n/a
26	CTCF	chr2:97759754-97759977	A549	lung:	n/a	n/a
27	CTCF	chr2:97760474-97760583	Lung_OC	lung:	n/a	n/a
28	CTCF	chr2:97759888-97760011	Gliobla	brain:	n/a	n/a
29	CTCF	chr2:97759705-97759981	K562	blood:	n/a	n/a
30	CTCF	chr2:97759884-97760021	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:97760192-97760254	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:97761080-97761173	GM19238	blood:	n/a	n/a
33	CTCF	chr2:97761090-97761205	GM12891	blood:	n/a	chr2:97761161-97761174
34	CTCF	chr2:97761100-97761250	HCPEpiC	choroid plexus:	n/a	chr2:97761161-97761174
35	CTCF	chr2:97759921-97760019	MCF-7	breast:	n/a	n/a
36	CTCF	chr2:97759887-97760062	GM12892	blood:	n/a	n/a
37	CTCF	chr2:97760169-97760243	GM19240	blood:	n/a	n/a
38	CTCF	chr2:97760746-97760847	GM10248	blood:	n/a	n/a
39	CTCF	chr2:97760162-97760205	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr2:97759949-97760028	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr2:97761140-97761290	HBMEC	blood vessel:	n/a	chr2:97761161-97761174
42	CTCF	chr2:97761140-97761290	GM12873	blood:	n/a	chr2:97761161-97761174
43	CTCF	chr2:97760115-97760153	GM10248	blood:	n/a	n/a
44	CTCF	chr2:97761071-97761214	MCF-7	breast:	n/a	chr2:97761161-97761174
45	CTCF	chr2:97760192-97760206	GM19239	blood:	n/a	n/a
46	CTCF	chr2:97760505-97760545	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:97761100-97761250	WERI-Rb-1	eye:	n/a	chr2:97761161-97761174
48	CTCF	chr2:97761080-97761230	HRE	kidney:	n/a	chr2:97761161-97761174
49	CTCF	chr2:97761100-97761250	Caco-2	colon:	n/a	chr2:97761161-97761174
50	CTCF	chr2:97759880-97760029	GM12878	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97760610-97760660	GM19239	blood:	n/a
2	chr2:97760749-97760799	HL-60	blood:	n/a
3	chr2:97760745-97760795	NH-A	brain:	n/a
4	chr2:97760606-97760656	Hela-S3	cervix:	n/a
5	chr2:97761334-97761384	NB4	blood:	n/a
6	chr2:97760745-97760795	Caco-2	colon:	n/a
7	chr2:97760606-97760656	ECC-1	luminal epithelium:	n/a
8	chr2:97760622-97760672	HNPCEpiC	eye:	n/a
9	chr2:97759501-97759551	SAEC	small airway:	n/a
10	chr2:97761354-97761404	HNPCEpiC	eye:	n/a
11	chr2:97759501-97759551	HCM	heart:	n/a
12	chr2:97760749-97760799	HEEpiC	esophagus:	n/a
13	chr2:97760749-97760799	ProgFib	skin:	n/a
14	chr2:97761843-97761893	Jurkat	blood:	n/a
15	chr2:97760610-97760660	SAEC	small airway:	n/a
16	chr2:97761843-97761893	HCF	heart:	n/a
17	chr2:97759501-97759551	MCF10A-Er-Src	breast:	n/a
18	chr2:97760622-97760672	HRPEpiC	eye:	n/a
19	chr2:97760606-97760656	U87	brain:	n/a
20	chr2:97760749-97760799	T-47D	breast:	n/a
21	chr2:97760610-97760660	SKMC	muscle:	n/a
22	chr2:97760610-97760660	ProgFib	skin:	n/a
23	chr2:97761354-97761404	GM19239	blood:	n/a
24	chr2:97759501-97759551	NB4	blood:	n/a
25	chr2:97761334-97761384	GM19239	blood:	n/a
26	chr2:97761334-97761384	Jurkat	blood:	n/a
27	chr2:97760612-97760662	SKMC	muscle:	n/a
28	chr2:97760745-97760795	SAEC	small airway:	n/a
29	chr2:97761843-97761893	HRPEpiC	eye:	n/a
30	chr2:97761334-97761384	HIPEpiC	eye:	n/a
31	chr2:97760745-97760795	GM19239	blood:	n/a
32	chr2:97763993-97764043	AG09309	skin:	n/a
33	chr2:97760749-97760799	IMR90	lung:	fetal
34	chr2:97763993-97764043	ovcar-3	ovarian:	n/a
35	chr2:97763993-97764043	HCF	heart:	n/a
36	chr2:97759501-97759551	K562	blood:	n/a
37	chr2:97761334-97761384	H1-hESC	embryonic stem cell:	embryo
38	chr2:97759501-97759551	HCT-116	colon:	n/a
39	chr2:97761843-97761893	HepG2	liver:	n/a
40	chr2:97761334-97761384	PFSK-1	brain:	n/a
41	chr2:97761843-97761893	GM12878	blood:	n/a
42	chr2:97759501-97759551	HNPCEpiC	eye:	n/a
43	chr2:97761843-97761893	PANC-1	pancreas:	n/a
44	chr2:97760610-97760660	GM12878	blood:	n/a
45	chr2:97761334-97761384	GM12892	blood:	n/a
46	chr2:97763993-97764043	GM06990	blood:	n/a
47	chr2:97760606-97760656	IMR90	lung:	fetal
48	chr2:97761334-97761384	Hela-S3	cervix:	n/a
49	chr2:97760749-97760799	A549	lung:	n/a
50	chr2:97760622-97760672	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
FAHD2B	TF binding region
RN7SL313P	TF binding region
FAHD2B	CpG island
RN7SL313P	CpG island

Extended variants
information (count: 165 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570524093	chr2:97757539-97757540	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs141760069	chr2:97757567-97757568	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528766834	chr2:97757572-97757573	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs145518288	chr2:97757579-97757580	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs571586259	chr2:97757626-97757627	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs537050527	chr2:97757628-97757629	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs550618430	chr2:97757631-97757632	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556173542	chr2:97757678-97757679	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567419163	chr2:97757708-97757709	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574332948	chr2:97757712-97757713	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542121159	chr2:97757715-97757716	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs536375395	chr2:97757728-97757729	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs137898672	chr2:97757743-97757744	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs572162639	chr2:97757754-97757755	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs534893229	chr2:97757802-97757803	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs557772809	chr2:97757880-97757881	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553619915	chr2:97757912-97757913	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs571910776	chr2:97758001-97758002	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs79875177	chr2:97758039-97758040	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190091272	chr2:97758072-97758073	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545551784	chr2:97758079-97758080	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563928497	chr2:97758106-97758107	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532686176	chr2:97758114-97758115	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs544357167	chr2:97758202-97758203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562936323	chr2:97758285-97758286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563317296	chr2:97758298-97758299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530009626	chr2:97758312-97758313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548885748	chr2:97758431-97758432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139693150	chr2:97758432-97758433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559863313	chr2:97758473-97758474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528700464	chr2:97758490-97758491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182822424	chr2:97758492-97758493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185947480	chr2:97758511-97758512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77259656	chr2:97758554-97758555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35150391	chr2:97758609-97758610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531158168	chr2:97758627-97758628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550540563	chr2:97758651-97758652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191142300	chr2:97758652-97758653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183807909	chr2:97758666-97758667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367782077	chr2:97758703-97758704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546804045	chr2:97758814-97758815	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs11693778	chr2:97758841-97758842	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs565823261	chr2:97758878-97758879	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534529412	chr2:97758896-97758897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369283639	chr2:97758905-97758906	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs1257101	chr2:97758953-97758954	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs188918960	chr2:97759184-97759185	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs1257102	chr2:97759198-97759199	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573691210	chr2:97759199-97759200	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs56951334	chr2:97759229-97759230	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-small cell lung cancer	16651412	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97745000-97760600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:97746600-97759800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:97747000-97760600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:97747200-97760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:97747600-97759800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:97748000-97759800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:97748000-97760400	Weak transcription	Ovary	ovary
8	chr2:97748000-97760400	Weak transcription	Right Ventricle	heart
9	chr2:97748000-97760600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:97748000-97760800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:97748600-97760800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:97748600-97761000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:97748800-97760600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:97749800-97759600	Weak transcription	Fetal Brain Female	brain
15	chr2:97750200-97758800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:97750200-97760800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:97750400-97759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:97750400-97759800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:97750400-97760000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:97750400-97760400	Weak transcription	Left Ventricle	heart
21	chr2:97750600-97759800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:97750600-97760400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:97750600-97761400	Weak transcription	Lung	lung
24	chr2:97750800-97759800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:97750800-97760400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:97751400-97759800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:97751600-97759800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:97751800-97759800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:97751800-97760800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:97752000-97759600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:97752000-97759800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:97752000-97759800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:97752000-97760400	Weak transcription	Psoas Muscle	Psoas
34	chr2:97752000-97760800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:97752200-97761000	Weak transcription	Fetal Kidney	kidney
36	chr2:97754800-97758000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:97754800-97759800	Weak transcription	Adipose Nuclei	Adipose
38	chr2:97755400-97760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:97755800-97759400	Weak transcription	Dnd41	blood
40	chr2:97755800-97759600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:97756200-97759600	Weak transcription	K562	blood
42	chr2:97756600-97759600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:97757000-97758000	Strong transcription	Fetal Stomach	stomach
44	chr2:97757400-97760800	Weak transcription	Fetal Brain Male	brain
45	chr2:97758000-97759800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:97758000-97759800	Weak transcription	Fetal Stomach	stomach
47	chr2:97758800-97759200	Enhancers	Brain Hippocampus Middle	brain
48	chr2:97758800-97759600	Enhancers	Brain Angular Gyrus	brain
49	chr2:97759200-97760000	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:97759400-97759600	Enhancers	Dnd41	blood

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