Variant report

Variant	esv2830225
Chromosome Location	chr2:140829708-140892139
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	ATF1	chr2:140867450-140867613	K562	blood:	n/a	n/a
2	BACH1	chr2:140883937-140883939	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr2:140876365-140876620	GM12878	blood:	n/a	n/a
4	CEBPB	chr2:140866724-140866961	HepG2	liver:	n/a	chr2:140866832-140866844
5	CTCF	chr2:140864180-140864229	Lung_OC	lung:	n/a	n/a
6	CTCF	chr2:140843287-140843544	MCF-7	breast:	n/a	chr2:140843429-140843450
7	CTCF	chr2:140846008-140846011	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr2:140843333-140843503	Hela-S3	cervix:	n/a	chr2:140843429-140843450
9	CTCF	chr2:140843320-140843470	MCF-7	breast:	n/a	chr2:140843429-140843450
10	CTCF	chr2:140843355-140843460	MCF-7	breast:	n/a	chr2:140843429-140843450
11	CTCF	chr2:140843340-140843490	BE2_C	brain:	n/a	chr2:140843429-140843450
12	CTCF	chr2:140843340-140843490	AG09319	gingival:	n/a	chr2:140843429-140843450
13	CTCF	chr2:140879600-140879750	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr2:140843340-140843490	HPF	lung:	n/a	chr2:140843429-140843450
15	CTCF	chr2:140879560-140879710	HRE	kidney:	n/a	n/a
16	CTCF	chr2:140843320-140843470	NHDF-neo	bronchial:	n/a	chr2:140843429-140843450
17	CTCF	chr2:140843280-140843430	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr2:140843360-140843510	HBMEC	blood vessel:	n/a	chr2:140843429-140843450
19	CTCF	chr2:140868080-140868230	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr2:140883980-140884130	GM12864	blood:	n/a	n/a
21	CTCF	chr2:140843309-140843543	LNCaP	prostate:	n/a	chr2:140843429-140843450
22	CTCF	chr2:140843347-140843501	HUVEC	blood vessel:	n/a	chr2:140843429-140843450
23	CTCF	chr2:140843260-140843410	HCM	heart:	n/a	n/a
24	CTCF	chr2:140843240-140843390	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr2:140865387-140865437	GM10266	blood:	n/a	n/a
26	CTCF	chr2:140843380-140843530	NHDF-neo	bronchial:	n/a	chr2:140843429-140843450
27	CTCF	chr2:140843280-140843430	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr2:140843360-140843510	RPTEC	kidney:	n/a	chr2:140843429-140843450
29	CTCF	chr2:140843340-140843490	HMEC	breast:	n/a	chr2:140843429-140843450
30	CTCF	chr2:140843347-140843536	Medullo	brain:	n/a	chr2:140843429-140843450
31	CTCF	chr2:140843336-140843519	LNCaP	prostate:	n/a	chr2:140843429-140843450
32	CTCF	chr2:140843340-140843490	HPAF	blood vessel:	n/a	chr2:140843429-140843450
33	CTCF	chr2:140843360-140843510	HRPEpiC	eye:	n/a	chr2:140843429-140843450
34	CTCF	chr2:140879623-140879702	Gliobla	brain:	n/a	n/a
35	CTCF	chr2:140843160-140843450	HAc	cerebellar:	n/a	chr2:140843429-140843450
36	CTCF	chr2:140843019-140843658	SK-N-SH	brain:	n/a	chr2:140843429-140843450
37	CTCF	chr2:140843400-140843550	Hela-S3	cervix:	n/a	chr2:140843429-140843450
38	CTCF	chr2:140843340-140843490	HRE	kidney:	n/a	chr2:140843429-140843450
39	CTCF	chr2:140843360-140843510	HPAF	blood vessel:	n/a	chr2:140843429-140843450
40	CTCF	chr2:140843320-140843470	HMEC	breast:	n/a	chr2:140843429-140843450
41	CTCF	chr2:140843327-140843692	HCT-116	colon:	n/a	chr2:140843429-140843450
42	CTCF	chr2:140843162-140843541	GM12878	blood:	n/a	chr2:140843429-140843450
43	CTCF	chr2:140843360-140843510	AG09319	gingival:	n/a	chr2:140843429-140843450
44	CTCF	chr2:140879203-140879250	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr2:140843386-140843464	Pancreas_OC	pancreas:	n/a	chr2:140843429-140843450
46	CTCF	chr2:140843360-140843510	HRE	kidney:	n/a	chr2:140843429-140843450
47	CTCF	chr2:140887641-140887690	GM10266	blood:	n/a	n/a
48	CTCF	chr2:140843358-140843478	Kidney_OC	kidney:	n/a	chr2:140843429-140843450
49	CTCF	chr2:140843340-140843490	HEK293	kidney:	n/a	chr2:140843429-140843450
50	CTCF	chr2:140843380-140843530	MCF-7	breast:	n/a	chr2:140843429-140843450

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:140831611-140831661	CMK	blood:	n/a
2	chr2:140831611-140831661	HCF	heart:	n/a
3	chr2:140831507-140831557	A549	lung:	n/a
4	chr2:140831611-140831661	HRE	kidney:	n/a
5	chr2:140831611-140831661	BE2_C	brain:	n/a
6	chr2:140831611-140831661	HCM	heart:	n/a
7	chr2:140831611-140831661	HMEC	breast:	n/a
8	chr2:140831507-140831557	Caco-2	colon:	n/a
9	chr2:140831507-140831557	HNPCEpiC	eye:	n/a
10	chr2:140831507-140831557	SAEC	small airway:	n/a
11	chr2:140831611-140831661	HL-60	blood:	n/a
12	chr2:140831507-140831557	HPAEpiC	pulmonary alveolar:	n/a
13	chr2:140831611-140831661	SKMC	muscle:	n/a
14	chr2:140831611-140831661	MCF-7	breast:	n/a
15	chr2:140831611-140831661	HUVEC	blood vessel:	n/a
16	chr2:140831507-140831557	K562	blood:	n/a
17	chr2:140831507-140831557	H1-hESC	embryonic stem cell:	embryo
18	chr2:140831611-140831661	NHDF-neo	bronchial:	n/a
19	chr2:140831611-140831661	NH-A	brain:	n/a
20	chr2:140831611-140831661	PFSK-1	brain:	n/a
21	chr2:140831611-140831661	PrEC	prostate:	n/a
22	chr2:140831507-140831557	U87	brain:	n/a
23	chr2:140831507-140831557	AG04450	lung:	fetal
24	chr2:140831611-140831661	HCPEpiC	choroid plexus:	n/a
25	chr2:140831611-140831661	GM12891	blood:	n/a
26	chr2:140831507-140831557	CMK	blood:	n/a
27	chr2:140831507-140831557	AoSMC	blood vessel:	n/a
28	chr2:140831507-140831557	HRCEpiC	kidney:	n/a
29	chr2:140831611-140831661	AoSMC	blood vessel:	n/a
30	chr2:140831611-140831661	U87	brain:	n/a
31	chr2:140831507-140831557	Hepatocyte	liver:	n/a
32	chr2:140831507-140831557	ProgFib	skin:	n/a
33	chr2:140831507-140831557	BJ	skin:	n/a
34	chr2:140831507-140831557	IMR90	lung:	fetal
35	chr2:140831611-140831661	AG04450	lung:	fetal
36	chr2:140831611-140831661	RPTEC	kidney:	n/a
37	chr2:140831507-140831557	HMEC	breast:	n/a
38	chr2:140831507-140831557	LNCaP	prostate:	n/a
39	chr2:140831507-140831557	RPTEC	kidney:	n/a
40	chr2:140831611-140831661	HAEpiC	amniotic membrane:	n/a
41	chr2:140831507-140831557	HCM	heart:	n/a
42	chr2:140831611-140831661	AG09309	skin:	n/a
43	chr2:140831507-140831557	Hela-S3	cervix:	n/a
44	chr2:140831507-140831557	MCF-7	breast:	n/a
45	chr2:140831611-140831661	AG10803	skin:	n/a
46	chr2:140831507-140831557	HIPEpiC	eye:	n/a
47	chr2:140831611-140831661	BJ	skin:	n/a
48	chr2:140831507-140831557	GM19239	blood:	n/a
49	chr2:140831611-140831661	ProgFib	skin:	n/a
50	chr2:140831507-140831557	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:140877979..140880874-chr2:140883604..140885311,2	MCF-7	breast:
2	chr2:140877979..140880874-chr2:140883604..140885311,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRP1B-2	chr2:140861152-140861339	XLOC_002340
2	lnc-LRP1B-2	chr2:140871611-140871673	XLOC_002340
3	lnc-LRP1B-2	chr2:140889211-140889349	XLOC_002340
4	lnc-LRP1B-2	chr2:140873960-140874013	XLOC_002340

Variant related genes	Relation type
ENSG00000224028	TF binding region
ENSG00000224028	CpG island

Extended variants
information (count: 314 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:314 , 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	rs142891378	chr2:140836213-140836214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557555320	chr2:140836246-140836247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570893200	chr2:140836286-140836287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369639911	chr2:140836305-140836306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539535904	chr2:140836364-140836365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373366385	chr2:140836407-140836408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553462139	chr2:140836432-140836433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199745031	chr2:140836502-140836503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367621868	chr2:140836503-140836504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200833588	chr2:140836504-140836505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397986033	chr2:140836515-140836516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186839964	chr2:140836566-140836567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151024576	chr2:140836574-140836575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558312822	chr2:140844012-140844013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34633424	chr2:140844022-140844023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62173162	chr2:140844027-140844028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72980966	chr2:140844064-140844065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562541789	chr2:140844069-140844070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553491070	chr2:140844091-140844092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573259658	chr2:140844151-140844152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16843289	chr2:140844159-140844160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116355754	chr2:140844246-140844247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145906335	chr2:140844278-140844279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545113066	chr2:140844379-140844380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138600645	chr2:140844390-140844391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191882447	chr2:140844395-140844396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184097618	chr2:140845800-140845801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556159931	chr2:140845821-140845822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531683362	chr2:140845879-140845880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72980970	chr2:140845882-140845883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72980972	chr2:140845901-140845902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368684391	chr2:140845917-140845918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527964649	chr2:140846007-140846008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547713537	chr2:140846031-140846032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567516800	chr2:140846069-140846070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146067909	chr2:140846082-140846083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72980974	chr2:140846133-140846134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569657029	chr2:140846141-140846142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538602675	chr2:140846178-140846179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545483467	chr2:140861173-140861174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs34857272	chr2:140861270-140861271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs115641674	chr2:140861324-140861325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs114043343	chr2:140866641-140866642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547967789	chr2:140866649-140866650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141953210	chr2:140866689-140866690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16843321	chr2:140866694-140866695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550009577	chr2:140866707-140866708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145316773	chr2:140866717-140866718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538671636	chr2:140866731-140866732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574792207	chr2:140866772-140866773	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Mental retardation	17621639	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:140836200-140836600	Enhancers	Fetal Brain Male	brain
2	chr2:140844000-140844400	Enhancers	Fetal Brain Female	brain
3	chr2:140845800-140846200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:140845800-140846200	Enhancers	Adipose Nuclei	Adipose
5	chr2:140866600-140867000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:140874000-140875400	Enhancers	Fetal Kidney	kidney
7	chr2:140875400-140876400	Weak transcription	Fetal Kidney	kidney
8	chr2:140876200-140876800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:140876200-140877000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:140876200-140877000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:140876400-140876600	Enhancers	Fetal Kidney	kidney
12	chr2:140876400-140876800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:140876400-140877000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:140876400-140877000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:140876400-140878400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:140876600-140877000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:140876800-140878000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:140877000-140877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:140877000-140877600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:140877600-140877800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:140877600-140877800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:140878000-140878400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:140879000-140879800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:140879400-140880400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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