Variant report

Variant	nsv1006411
Chromosome Location	chr2:187150025-187291081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:569)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:187243853-187244046	K562	blood:	n/a	n/a
2	ARID3A	chr2:187243865-187244178	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:187206787-187207142	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:187247288-187248149	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:187168763-187169293	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:187173020-187173545	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:187164433-187164716	HepG2	liver:	n/a	n/a
8	ATF1	chr2:187214340-187214528	K562	blood:	n/a	n/a
9	ATF1	chr2:187243808-187244266	K562	blood:	n/a	n/a
10	ATF2	chr2:187263807-187264170	GM12878	blood:	n/a	n/a
11	BATF	chr2:187212171-187212425	GM12878	blood:	n/a	chr2:187212330-187212340 chr2:187212329-187212340
12	BATF	chr2:187263860-187264149	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:187247572-187248022	HepG2	liver:	n/a	n/a
14	BHLHE40	chr2:187172649-187173008	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:187168871-187169071	HepG2	liver:	n/a	n/a
16	CBX3	chr2:187214226-187214609	HCT-116	colon:	n/a	n/a
17	CEBPB	chr2:187240590-187240862	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:187173092-187173343	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:187243884-187244066	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:187173018-187173453	HCT-116	colon:	n/a	n/a
21	CEBPB	chr2:187211925-187212181	IMR90	lung:	n/a	n/a
22	CEBPB	chr2:187198053-187198290	A549	lung:	n/a	chr2:187198180-187198191
23	CEBPB	chr2:187247731-187248003	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:187194952-187195104	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:187173024-187173481	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:187205988-187206512	HepG2	liver:	n/a	chr2:187206388-187206399
27	CEBPB	chr2:187246430-187246566	K562	blood:	n/a	n/a
28	CEBPB	chr2:187160429-187160719	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:187243840-187244174	K562	blood:	n/a	n/a
30	CEBPB	chr2:187247775-187248060	MCF-7	breast:	n/a	n/a
31	CEBPB	chr2:187286972-187287359	IMR90	lung:	n/a	n/a
32	CEBPB	chr2:187243882-187244137	K562	blood:	n/a	n/a
33	CEBPB	chr2:187173048-187173341	MCF-7	breast:	n/a	n/a
34	CEBPB	chr2:187247630-187248076	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:187173089-187173381	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr2:187197705-187198263	IMR90	lung:	n/a	chr2:187198180-187198191
37	CEBPB	chr2:187160425-187160666	A549	lung:	n/a	n/a
38	CEBPB	chr2:187243854-187244196	K562	blood:	n/a	n/a
39	CEBPB	chr2:187198051-187198316	HepG2	liver:	n/a	chr2:187198180-187198191
40	CEBPB	chr2:187243860-187244174	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:187282341-187282541	IMR90	lung:	n/a	chr2:187282472-187282483
42	CEBPB	chr2:187211903-187212201	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:187197140-187197143	A549	lung:	n/a	n/a
44	CEBPB	chr2:187173060-187173458	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:187230343-187230565	HepG2	liver:	n/a	chr2:187230421-187230432 chr2:187230419-187230430 chr2:187230419-187230432 chr2:187230421-187230432 chr2:187230419-187230432
46	CEBPB	chr2:187173103-187173303	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr2:187247715-187248094	HepG2	liver:	n/a	n/a
48	CEBPB	chr2:187282385-187282577	A549	lung:	n/a	chr2:187282472-187282483
49	CEBPB	chr2:187282348-187282543	HepG2	liver:	n/a	chr2:187282472-187282483
50	CEBPB	chr2:187230331-187230525	A549	lung:	n/a	chr2:187230421-187230432 chr2:187230419-187230430 chr2:187230419-187230432 chr2:187230421-187230432 chr2:187230419-187230432

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187168079..187170910-chr2:187226806..187228664,2	K562	blood:
2	chr2:187284387..187285958-chr2:187350092..187352490,2	MCF-7	breast:
3	chr14:59949728..59952600-chr2:187172098..187173850,2	MCF-7	breast:
4	chr2:187247609..187249365-chr2:187349297..187352052,2	K562	blood:
5	chr2:187168079..187170910-chr2:187226806..187228664,2	K562	blood:
6	chr2:187237291..187240227-chr2:187242053..187243654,2	MCF-7	breast:
7	chr2:187237291..187240227-chr2:187242053..187243654,2	MCF-7	breast:
8	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
9	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
10	chr2:187278384..187280283-chr2:187283538..187285268,2	K562	blood:
11	chr2:187250943..187253754-chr2:187257161..187259354,2	MCF-7	breast:
12	chr2:187144221..187146013-chr2:187148146..187151029,2	K562	blood:
13	chr2:187282655..187284995-chr2:187288097..187289675,2	K562	blood:
14	chr2:187224692..187226371-chr2:187226944..187229752,2	K562	blood:
15	chr2:187219578..187221078-chr21:16109986..16111626,2	K562	blood:
16	chr2:187205041..187207847-chr2:187331696..187333365,2	K562	blood:
17	chr2:187278384..187280283-chr2:187283538..187285268,2	K562	blood:
18	chr2:187250943..187253754-chr2:187257161..187259354,2	MCF-7	breast:
19	chr2:187282655..187284995-chr2:187288097..187289675,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-3	chr2:187288141-187289010	NONHSAT075981
2	lnc-ZC3H15-4	chr2:187222394-187224044	NONHSAT075990
3	lnc-ZSWIM2-3	chr2:187265288-187266622	NONHSAT075981
4	lnc-ZSWIM2-9	chr2:187257285-187257647	NONHSAT075993
5	lnc-ZSWIM2-2	chr2:187219297-187221500	NONHSAT075989
6	lnc-ZSWIM2-3	chr2:187166504-187166849	NONHSAT075981
7	lnc-ZSWIM2-3	chr2:187205652-187206185	NONHSAT075981
8	lnc-ZSWIM2-2	chr2:187219299-187221500	ENSG00000259915.1
9	lnc-ZSWIM2-3	chr2:187249030-187249978	NONHSAT075981
10	lnc-ZSWIM2-3	chr2:187229171-187229856	NONHSAT075981
11	lnc-ZSWIM2-3	chr2:187228431-187229856	NONHSAT075991

No data

Variant related genes	Relation type
MED28P3	TF binding region
ENSG00000259915	TF binding region
ENSG00000065548	chromatin interactions
ENSG00000050130	chromatin interactions
ENSG00000126790	chromatin interactions
ENSG00000227692	chromatin interactions

Extended variants
information (count: 4694 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:4694 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4530331	chr2:187150058-187150059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544145857	chr2:187150102-187150103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182515130	chr2:187150159-187150160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572250288	chr2:187150160-187150161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532749623	chr2:187150201-187150202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551380756	chr2:187150248-187150249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566413411	chr2:187150250-187150251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527419750	chr2:187150266-187150267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372877619	chr2:187150282-187150283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567906460	chr2:187150301-187150302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538529234	chr2:187150391-187150392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149439668	chr2:187150418-187150419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571911169	chr2:187150439-187150440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77265276	chr2:187150470-187150471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146537491	chr2:187150587-187150588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78876242	chr2:187150594-187150595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115596391	chr2:187150602-187150603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572191487	chr2:187150604-187150605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62197223	chr2:187150608-187150609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs202243013	chr2:187150616-187150617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140132712	chr2:187150618-187150619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573537281	chr2:187150626-187150627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544008114	chr2:187150635-187150636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144363899	chr2:187150639-187150640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544588076	chr2:187150679-187150680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562615423	chr2:187150718-187150719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187984199	chr2:187150790-187150791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372778566	chr2:187150836-187150837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560124400	chr2:187150872-187150873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144257002	chr2:187150928-187150929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192434199	chr2:187150966-187150967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560975228	chr2:187150989-187150990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183440584	chr2:187151007-187151008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541357875	chr2:187151023-187151024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7571191	chr2:187151057-187151058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs115233583	chr2:187151071-187151072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539351441	chr2:187151095-187151096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547452945	chr2:187151112-187151113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114382653	chr2:187151139-187151140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536336227	chr2:187151154-187151155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386653510	chr2:187151205-187151206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7571408	chr2:187151207-187151208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542967861	chr2:187151256-187151257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368720115	chr2:187151257-187151258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187380738	chr2:187151280-187151281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370995861	chr2:187151335-187151336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537611931	chr2:187151358-187151359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528611446	chr2:187151374-187151375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556360091	chr2:187151417-187151418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577839846	chr2:187151436-187151437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187147800-187167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187152200-187153200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:187152400-187153000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:187159000-187159400	Enhancers	Psoas Muscle	Psoas
5	chr2:187159000-187159600	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:187159000-187159600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:187159000-187160000	Enhancers	Left Ventricle	heart
8	chr2:187159000-187161400	Enhancers	Fetal Heart	heart
9	chr2:187160000-187161800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:187160800-187161200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:187161200-187161400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:187162000-187164400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:187163600-187170600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:187164200-187164600	Enhancers	Fetal Lung	lung
15	chr2:187164400-187165000	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:187164400-187165200	Enhancers	HepG2	liver
17	chr2:187165200-187168400	Weak transcription	HepG2	liver
18	chr2:187167200-187167400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:187167600-187168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:187167600-187168000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:187167600-187168400	Enhancers	NHEK	skin
22	chr2:187168000-187172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:187168000-187173000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:187168400-187168600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:187168400-187169600	Enhancers	HepG2	liver
26	chr2:187168400-187172400	Weak transcription	NHEK	skin
27	chr2:187168800-187169000	Enhancers	Fetal Intestine Large	intestine
28	chr2:187168800-187170400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:187169000-187171200	Weak transcription	Fetal Intestine Large	intestine
30	chr2:187169600-187172400	Weak transcription	HepG2	liver
31	chr2:187170400-187171200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:187170600-187173800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:187170800-187171000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:187170800-187173600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:187170800-187174000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:187171000-187171200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr2:187171000-187171600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:187171000-187174000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:187171200-187171400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:187171200-187171400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:187171200-187171400	Enhancers	Brain Substantia Nigra	brain
42	chr2:187171200-187171800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:187171200-187171800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:187171200-187173400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:187171200-187173400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:187171200-187173800	Enhancers	Fetal Intestine Large	intestine
47	chr2:187171400-187171600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:187171400-187171600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr2:187171400-187179400	Weak transcription	Brain Substantia Nigra	brain
50	chr2:187171600-187171800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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