Variant report

Variant	esv3340132
Chromosome Location	chr2:10328101-10332799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:209)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:209 , 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	CTCF	chr2:10328351-10328716	T-47D	breast:	n/a	n/a
2	CTCF	chr2:10328256-10328877	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:10328360-10328510	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr2:10328420-10328570	BE2_C	brain:	n/a	n/a
5	CTCF	chr2:10328440-10328590	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr2:10328420-10328570	HCT-116	colon:	n/a	n/a
7	CTCF	chr2:10328276-10328907	K562	blood:	n/a	n/a
8	CTCF	chr2:10328436-10328660	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:10328520-10328670	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr2:10328420-10328570	A549	lung:	n/a	n/a
11	CTCF	chr2:10328440-10328590	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr2:10328312-10328872	HCT-116	colon:	n/a	n/a
13	CTCF	chr2:10328460-10328610	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr2:10328480-10328630	AG10803	skin:	n/a	n/a
15	CTCF	chr2:10328426-10328656	LNCaP	prostate:	n/a	n/a
16	CTCF	chr2:10328451-10328608	GM12878	blood:	n/a	n/a
17	CTCF	chr2:10328380-10328650	GM12873	blood:	n/a	n/a
18	CTCF	chr2:10328077-10328990	A549	lung:	n/a	n/a
19	CTCF	chr2:10328333-10328761	K562	blood:	n/a	n/a
20	CTCF	chr2:10328400-10328550	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr2:10328460-10328610	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr2:10328420-10328570	GM12865	blood:	n/a	n/a
23	CTCF	chr2:10328420-10328570	HCM	heart:	n/a	n/a
24	CTCF	chr2:10328480-10328630	Caco-2	colon:	n/a	n/a
25	CTCF	chr2:10328520-10328670	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:10328480-10328636	Lung_OC	lung:	n/a	n/a
27	CTCF	chr2:10328529-10328615	GM12892	blood:	n/a	n/a
28	CTCF	chr2:10328320-10328470	GM12873	blood:	n/a	n/a
29	CTCF	chr2:10328273-10328891	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:10328386-10328665	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:10328340-10328490	HAc	cerebellar:	n/a	n/a
32	CTCF	chr2:10328460-10328610	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr2:10328092-10329022	HCT-116	colon:	n/a	n/a
34	CTCF	chr2:10328391-10328692	HepG2	liver:	n/a	n/a
35	CTCF	chr2:10328480-10328630	BE2_C	brain:	n/a	n/a
36	CTCF	chr2:10328480-10328630	GM12870	blood:	n/a	n/a
37	CTCF	chr2:10328385-10328803	T-47D	breast:	n/a	n/a
38	CTCF	chr2:10328500-10328650	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr2:10328440-10328590	NHEK	skin:	n/a	n/a
40	CTCF	chr2:10328400-10328550	HL-60	blood:	n/a	n/a
41	CTCF	chr2:10328400-10328550	RPTEC	kidney:	n/a	n/a
42	CTCF	chr2:10328460-10328610	HPF	lung:	n/a	n/a
43	CTCF	chr2:10328360-10328510	HCM	heart:	n/a	n/a
44	CTCF	chr2:10328460-10328610	NHEK	skin:	n/a	n/a
45	CTCF	chr2:10328429-10328639	LNCaP	prostate:	n/a	n/a
46	CTCF	chr2:10328486-10328612	GM19240	blood:	n/a	n/a
47	CTCF	chr2:10328440-10328590	K562	blood:	n/a	n/a
48	CTCF	chr2:10328421-10328659	A549	lung:	n/a	n/a
49	CTCF	chr2:10328420-10328570	NB4	blood:	n/a	n/a
50	CTCF	chr2:10328420-10328570	RPTEC	kidney:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10282168..10283119-chr2:10328456..10329013,3	MCF-7	breast:
2	chr2:10328066..10328890-chr2:10443478..10444354,3	MCF-7	breast:
3	chr2:10212496..10213272-chr2:10328166..10328691,2	K562	blood:
4	chr2:10325813..10327549-chr2:10329142..10331851,2	K562	blood:
5	chr2:10328063..10328629-chr2:10575089..10575716,3	K562	blood:
6	chr2:10326584..10329033-chr2:10441051..10443274,2	MCF-7	breast:
7	chr2:10328447..10328994-chr2:10426584..10427446,2	MCF-7	breast:
8	chr2:10328190..10329252-chr2:10575138..10575869,4	MCF-7	breast:
9	chr2:10328455..10329154-chr2:10549215..10549757,2	K562	blood:
10	chr2:10328419..10328932-chr2:10445333..10446204,3	MCF-7	breast:
11	chr2:10328070..10328961-chr2:10549008..10550652,5	MCF-7	breast:
12	chr2:10302901..10305330-chr2:10325922..10328605,2	K562	blood:
13	chr2:10325813..10328227-chr2:10329027..10331851,2	K562	blood:
14	chr2:10260909..10263628-chr2:10332391..10334618,3	K562	blood:
15	chr2:10328469..10328995-chr2:10574784..10575648,2	MCF-7	breast:
16	chr2:10325813..10328227-chr2:10329027..10331851,2	K562	blood:
17	chr2:10328421..10328930-chr2:10442179..10443004,2	MCF-7	breast:
18	chr2:10328150..10328991-chr2:10548904..10549863,5	MCF-7	breast:
19	chr2:10326687..10328532-chr2:10350704..10352850,2	K562	blood:
20	chr2:10261562..10263628-chr2:10332391..10333942,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4261	chr2:10332750-10332765	MIMAT0016890

No data

Variant related genes	Relation type
MIR4261	TF binding region
ENSG00000171848	chromatin interactions
ENSG00000115756	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201923716	chr2:10328103-10328104	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540461249	chr2:10328117-10328118	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558875498	chr2:10328122-10328123	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568575182	chr2:10328134-10328135	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577236979	chr2:10328171-10328172	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78945285	chr2:10328179-10328180	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138530432	chr2:10328225-10328226	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149261107	chr2:10328246-10328247	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376402144	chr2:10328282-10328283	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547570763	chr2:10328285-10328286	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs741263	chr2:10328329-10328330	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560679868	chr2:10328332-10328333	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75600313	chr2:10328359-10328360	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552384365	chr2:10328370-10328371	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143521097	chr2:10328374-10328375	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528418273	chr2:10328396-10328397	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375714923	chr2:10328398-10328399	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550121206	chr2:10328415-10328416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568763623	chr2:10328416-10328417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536292061	chr2:10328450-10328451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370112493	chr2:10328467-10328468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114430494	chr2:10328493-10328494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs72788345	chr2:10328503-10328504	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185756706	chr2:10328576-10328577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558808136	chr2:10328612-10328613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148034034	chr2:10328657-10328658	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113177087	chr2:10328722-10328723	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141748256	chr2:10328747-10328748	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556472330	chr2:10328776-10328777	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188606785	chr2:10328789-10328790	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565116242	chr2:10328904-10328905	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376748694	chr2:10328948-10328949	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527810585	chr2:10328987-10328988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545955301	chr2:10328989-10328990	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564350568	chr2:10329030-10329031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531840364	chr2:10329040-10329041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550059652	chr2:10329062-10329063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568777029	chr2:10329064-10329065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537456693	chr2:10329065-10329066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548196092	chr2:10329141-10329142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180971102	chr2:10329205-10329206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543922624	chr2:10329255-10329256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35162784	chr2:10329257-10329258	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574350084	chr2:10329267-10329268	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73914001	chr2:10329286-10329287	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186059773	chr2:10329288-10329289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558742800	chr2:10329303-10329304	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570662108	chr2:10329321-10329322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538082142	chr2:10329345-10329346	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192109952	chr2:10329367-10329368	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
3	chr2:10290200-10351400	Strong transcription	Dnd41	blood
4	chr2:10302400-10337600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:10304400-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:10311800-10331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:10311800-10337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:10314000-10340400	Weak transcription	HepG2	liver
10	chr2:10320600-10337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:10320800-10332400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:10320800-10336800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:10321800-10333400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:10321800-10338000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:10325000-10328600	Weak transcription	Gastric	stomach
16	chr2:10325200-10328800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:10325400-10333000	Weak transcription	Fetal Lung	lung
18	chr2:10325600-10330000	Strong transcription	Fetal Thymus	thymus
19	chr2:10325600-10342800	Weak transcription	Fetal Brain Female	brain
20	chr2:10326600-10329800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:10326600-10339400	Strong transcription	Thymus	Thymus
22	chr2:10326800-10330000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:10327000-10328200	Enhancers	Brain Germinal Matrix	brain
24	chr2:10327000-10328400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:10327000-10328400	Enhancers	Fetal Muscle Leg	muscle
26	chr2:10327400-10328200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:10327400-10331600	Weak transcription	Fetal Intestine Small	intestine
28	chr2:10327600-10330000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:10327600-10330000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:10327600-10333600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:10328000-10333400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:10328200-10336600	Weak transcription	Brain Germinal Matrix	brain
33	chr2:10328400-10329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:10328400-10332600	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:10328600-10328800	Enhancers	Gastric	stomach
36	chr2:10328800-10336600	Weak transcription	Gastric	stomach
37	chr2:10329000-10337200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:10329200-10329600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:10329200-10331200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:10329800-10333600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:10330000-10330800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:10330000-10330800	Enhancers	Pancreas	Pancrea
43	chr2:10330000-10331200	Weak transcription	Fetal Thymus	thymus
44	chr2:10330200-10330800	ZNF genes & repeats	Fetal Kidney	kidney
45	chr2:10330600-10331000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:10330800-10331800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:10330800-10334000	Weak transcription	Fetal Kidney	kidney
48	chr2:10331000-10331400	Enhancers	Primary B cells from peripheral blood	blood
49	chr2:10331000-10332800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:10331200-10331400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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