Variant report

Variant	nsv583246
Chromosome Location	chr2:144670651-144691346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:144676114-144676441	K562	blood:	n/a	n/a
2	CBX3	chr2:144676107-144676453	K562	blood:	n/a	n/a
3	CBX3	chr2:144678934-144679199	K562	blood:	n/a	n/a
4	CEBPB	chr2:144684363-144684690	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:144687247-144687560	HepG2	liver:	n/a	chr2:144687388-144687399
6	CEBPB	chr2:144687213-144687497	IMR90	lung:	n/a	chr2:144687388-144687399
7	CEBPB	chr2:144689657-144689777	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:144671319-144671643	HepG2	liver:	n/a	chr2:144671456-144671467
9	CEBPB	chr2:144671389-144671638	A549	lung:	n/a	chr2:144671456-144671467
10	CEBPB	chr2:144688558-144688597	HepG2	liver:	n/a	n/a
11	CTCF	chr2:144687500-144687650	HMF	breast:	n/a	n/a
12	CTCF	chr2:144672140-144672290	GM06990	blood:	n/a	n/a
13	CTCF	chr2:144687520-144687670	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr2:144687484-144687646	GM12878	blood:	n/a	n/a
15	CTCF	chr2:144687572-144687607	HepG2	liver:	n/a	n/a
16	CTCF	chr2:144687440-144687590	GM12873	blood:	n/a	n/a
17	CTCF	chr2:144687520-144687638	GM19238	blood:	n/a	n/a
18	CTCF	chr2:144672180-144672330	HCT-116	colon:	n/a	n/a
19	CTCF	chr2:144687520-144687670	HMEC	breast:	n/a	n/a
20	CTCF	chr2:144672151-144672249	A549	lung:	n/a	n/a
21	CTCF	chr2:144687520-144687593	GM13976	blood:	n/a	n/a
22	CTCF	chr2:144687495-144687650	K562	blood:	n/a	n/a
23	CTCF	chr2:144687544-144687616	NHEK	skin:	n/a	n/a
24	CTCF	chr2:144687500-144687650	GM12872	blood:	n/a	n/a
25	CTCF	chr2:144687360-144687510	GM12873	blood:	n/a	n/a
26	CTCF	chr2:144687529-144687618	A549	lung:	n/a	n/a
27	CTCF	chr2:144687421-144687733	GM12878	blood:	n/a	n/a
28	CTCF	chr2:144672100-144672250	K562	blood:	n/a	n/a
29	CTCF	chr2:144687460-144687610	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr2:144687557-144687580	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:144672240-144672390	GM12872	blood:	n/a	n/a
32	CTCF	chr2:144687480-144687630	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr2:144687549-144687576	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr2:144687540-144687690	GM12864	blood:	n/a	n/a
35	CTCF	chr2:144672120-144672270	HEK293	kidney:	n/a	n/a
36	CTCF	chr2:144672080-144672230	GM12872	blood:	n/a	n/a
37	CTCF	chr2:144672100-144672250	A549	lung:	n/a	n/a
38	CTCF	chr2:144672120-144672270	GM12864	blood:	n/a	n/a
39	CTCF	chr2:144687489-144687647	GM12892	blood:	n/a	n/a
40	CTCF	chr2:144687553-144687580	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:144687460-144687610	GM12865	blood:	n/a	n/a
42	CTCF	chr2:144687440-144687590	GM12865	blood:	n/a	n/a
43	CTCF	chr2:144687499-144687640	GM19240	blood:	n/a	n/a
44	CTCF	chr2:144672020-144672170	GM12872	blood:	n/a	n/a
45	CTCF	chr2:144687540-144687690	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr2:144672020-144672170	GM12873	blood:	n/a	n/a
47	CTCF	chr2:144687480-144687630	GM12878	blood:	n/a	n/a
48	CTCF	chr2:144687521-144687594	GM10266	blood:	n/a	n/a
49	CTCF	chr2:144687505-144687635	GM19239	blood:	n/a	n/a
50	EP300	chr2:144683703-144683754	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:144685234..144688030-chr2:144717125..144719002,2	K562	blood:
2	chr2:144684000..144686293-chr2:145089370..145091647,2	K562	blood:
3	chr2:144687027..144688572-chr2:144690618..144693270,2	K562	blood:
4	chr2:144681574..144683750-chr2:144691363..144693322,2	K562	blood:
5	chr2:144667965..144669703-chr2:144669954..144671489,2	MCF-7	breast:
6	chr2:144669898..144672819-chr2:144685231..144687697,2	K562	blood:
7	chr2:144687027..144688572-chr2:144690618..144693270,2	K562	blood:
8	chr2:144669898..144672819-chr2:144685231..144687697,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232377	TF binding region
ENSG00000121964	chromatin interactions

Extended variants
information (count: 727 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:727 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11888667	chr2:144670651-144670652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578053384	chr2:144670942-144670943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545133024	chr2:144670943-144670944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563713370	chr2:144670959-144670960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143034251	chr2:144670963-144670964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs744535	chr2:144670964-144670965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs58626411	chr2:144670970-144670971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528747552	chr2:144671001-144671002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547191275	chr2:144671037-144671038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148188743	chr2:144671066-144671067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188707963	chr2:144671144-144671145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36045907	chr2:144671162-144671163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575400862	chr2:144671244-144671245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78104479	chr2:144671245-144671246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561202879	chr2:144671286-144671287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536626341	chr2:144671287-144671288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141375624	chr2:144671374-144671375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573621871	chr2:144671433-144671434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191485247	chr2:144671458-144671459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553142928	chr2:144671467-144671468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577752559	chr2:144671554-144671555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369944092	chr2:144671622-144671623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150374928	chr2:144671671-144671672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540650825	chr2:144671684-144671685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13003277	chr2:144671689-144671690	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183682371	chr2:144671696-144671697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543061910	chr2:144671707-144671708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78810772	chr2:144671709-144671710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74802038	chr2:144671711-144671712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527784468	chr2:144671714-144671715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116645804	chr2:144671770-144671771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373834726	chr2:144671775-144671776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188688812	chr2:144671777-144671778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559266230	chr2:144671779-144671780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191635134	chr2:144671780-144671781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551088565	chr2:144671808-144671809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569395123	chr2:144671852-144671853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375761748	chr2:144671879-144671880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184115992	chr2:144671880-144671881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190414620	chr2:144671946-144671947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142570126	chr2:144672017-144672018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534958279	chr2:144672025-144672026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201006077	chr2:144672026-144672027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181640553	chr2:144672036-144672037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369439921	chr2:144672072-144672073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549229845	chr2:144672088-144672089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs787147	chr2:144672091-144672092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557160966	chr2:144672141-144672142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs787146	chr2:144672142-144672143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543094875	chr2:144672179-144672180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144661400-144671600	Weak transcription	Ovary	ovary
2	chr2:144668000-144673800	Weak transcription	Fetal Lung	lung
3	chr2:144670600-144672000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:144671600-144672200	Enhancers	Ovary	ovary
5	chr2:144673800-144674200	Enhancers	Fetal Lung	lung
6	chr2:144674000-144675600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:144674200-144674800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:144674200-144675600	Weak transcription	Fetal Lung	lung
9	chr2:144675600-144676000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:144675600-144676800	ZNF genes & repeats	Fetal Lung	lung
11	chr2:144675800-144676200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:144676200-144677600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:144676800-144690600	Weak transcription	Fetal Lung	lung
14	chr2:144677800-144678400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:144678400-144685600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:144682200-144685600	Weak transcription	Fetal Kidney	kidney
17	chr2:144683000-144683200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:144683200-144683400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:144683400-144684400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:144683400-144685200	Enhancers	Fetal Intestine Large	intestine
21	chr2:144683600-144684000	Enhancers	K562	blood
22	chr2:144683600-144684400	Enhancers	Fetal Intestine Small	intestine
23	chr2:144683800-144684400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:144683800-144684400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:144684400-144685600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:144685600-144685800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:144685600-144686600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:144685600-144686600	Enhancers	Fetal Kidney	kidney
29	chr2:144685600-144686600	Enhancers	Ovary	ovary
30	chr2:144685600-144686800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:144685800-144686200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:144685800-144686200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
33	chr2:144685800-144686600	Enhancers	HSMM	muscle
34	chr2:144686000-144686600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:144686200-144691600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:144686400-144686600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:144686400-144686800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:144686600-144687000	Weak transcription	HSMM	muscle
39	chr2:144686600-144689600	Weak transcription	Fetal Kidney	kidney
40	chr2:144686600-144691200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:144686600-144692400	Weak transcription	Ovary	ovary
42	chr2:144686800-144690600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:144686800-144691000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:144689600-144694000	Enhancers	Fetal Kidney	kidney
45	chr2:144689800-144690000	Enhancers	Fetal Stomach	stomach
46	chr2:144690000-144691800	Weak transcription	Fetal Stomach	stomach
47	chr2:144690600-144692000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:144690600-144692000	Enhancers	Fetal Lung	lung
49	chr2:144691000-144691400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:144691000-144692800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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