Variant report

Variant	nsv429991
Chromosome Location	chr1:189942242-189984913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr1:189969460-189970122	A549	lung:	n/a	chr1:189969632-189969641 chr1:189969514-189969523
2	CEBPB	chr1:189966523-189966870	IMR90	lung:	n/a	chr1:189966685-189966696
3	CEBPB	chr1:189966553-189966843	A549	lung:	n/a	chr1:189966685-189966696
4	CEBPB	chr1:189966592-189966813	MCF-7	breast:	n/a	chr1:189966685-189966696
5	CEBPB	chr1:189969426-189970047	A549	lung:	n/a	n/a
6	CEBPB	chr1:189966532-189966826	HepG2	liver:	n/a	chr1:189966685-189966696
7	CEBPB	chr1:189969527-189969898	IMR90	lung:	n/a	n/a
8	CEBPB	chr1:189951723-189951923	IMR90	lung:	n/a	chr1:189951847-189951858
9	CEBPB	chr1:189969579-189969895	A549	lung:	n/a	n/a
10	CEBPB	chr1:189984024-189984217	IMR90	lung:	n/a	n/a
11	CEBPB	chr1:189966602-189966802	K562	blood:	n/a	chr1:189966685-189966696
12	CEBPB	chr1:189951683-189951980	HepG2	liver:	n/a	chr1:189951847-189951858
13	CEBPB	chr1:189966558-189966824	H1-hESC	embryonic stem cell:	n/a	chr1:189966685-189966696
14	CTCF	chr1:189958540-189958690	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:189946420-189946570	A549	lung:	n/a	n/a
16	CTCF	chr1:189961252-189961345	K562	blood:	n/a	n/a
17	CTCF	chr1:189946308-189946580	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:189946485-189946558	GM12891	blood:	n/a	n/a
19	CTCF	chr1:189978420-189978570	WI-38	lung:	n/a	n/a
20	CTCF	chr1:189946440-189946590	GM12864	blood:	n/a	n/a
21	CTCF	chr1:189946420-189946570	GM12869	blood:	n/a	n/a
22	CTCF	chr1:189946440-189946590	GM12868	blood:	n/a	n/a
23	CTCF	chr1:189946520-189946670	BE2_C	brain:	n/a	n/a
24	CTCF	chr1:189946440-189946590	GM12865	blood:	n/a	n/a
25	CTCF	chr1:189946463-189946539	K562	blood:	n/a	n/a
26	CTCF	chr1:189946380-189946530	GM12867	blood:	n/a	n/a
27	CTCF	chr1:189946400-189946550	HepG2	liver:	n/a	n/a
28	CTCF	chr1:189946496-189946509	MCF-7	breast:	n/a	n/a
29	CTCF	chr1:189946478-189946559	GM13977	blood:	n/a	n/a
30	CTCF	chr1:189946429-189946562	HepG2	liver:	n/a	n/a
31	CTCF	chr1:189946458-189946546	A549	lung:	n/a	n/a
32	CTCF	chr1:189946440-189946590	GM12874	blood:	n/a	n/a
33	CTCF	chr1:189946461-189946570	GM12878	blood:	n/a	n/a
34	CTCF	chr1:189958560-189958710	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr1:189946420-189946570	GM12866	blood:	n/a	n/a
36	CTCF	chr1:189946437-189946582	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:189946440-189946590	HEK293	kidney:	n/a	n/a
38	CTCF	chr1:189946440-189946590	GM12872	blood:	n/a	n/a
39	CTCF	chr1:189946460-189946610	GM12871	blood:	n/a	n/a
40	CTCF	chr1:189946460-189946610	GM12864	blood:	n/a	n/a
41	CTCF	chr1:189980816-189980870	GM10266	blood:	n/a	n/a
42	CTCF	chr1:189946464-189946538	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:189946445-189946559	Gliobla	brain:	n/a	n/a
44	CTCF	chr1:189958840-189958990	HepG2	liver:	n/a	n/a
45	CTCF	chr1:189946463-189946546	GM12892	blood:	n/a	n/a
46	CTCF	chr1:189946480-189946630	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr1:189946440-189946590	GM12875	blood:	n/a	n/a
48	CTCF	chr1:189946440-189946590	GM12873	blood:	n/a	n/a
49	CTCF	chr1:189961249-189961379	K562	blood:	n/a	n/a
50	CTCF	chr1:189946474-189946548	GM19238	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:189955705..189957975-chr1:189976972..189978590,2	K562	blood:
2	chr1:189955705..189957975-chr1:189976972..189978590,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-5	chr1:189958700-189962227	NONHSAT008489

No data

Variant related genes	Relation type
ENSG00000230987	TF binding region

Extended variants
information (count: 624 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1320749	chr1:189942242-189942243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139997555	chr1:189942285-189942286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561806747	chr1:189942286-189942287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148919000	chr1:189942327-189942328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1320750	chr1:189942336-189942337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7340028	chr1:189942402-189942403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75706456	chr1:189942427-189942428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533471295	chr1:189942434-189942435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549933341	chr1:189942467-189942468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1730735	chr1:189942493-189942494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551713263	chr1:189942503-189942504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529479576	chr1:189942509-189942510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115762622	chr1:189942539-189942540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550840905	chr1:189942541-189942542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555001129	chr1:189951610-189951611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116715627	chr1:189951631-189951632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535079029	chr1:189951635-189951636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553297276	chr1:189951636-189951637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550969512	chr1:189951643-189951644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576861858	chr1:189951668-189951669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78748809	chr1:189951683-189951684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558470804	chr1:189951695-189951696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138424503	chr1:189951709-189951710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80218384	chr1:189951741-189951742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571240329	chr1:189951756-189951757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561006271	chr1:189951777-189951778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368860078	chr1:189951779-189951780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12401820	chr1:189951793-189951794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560173112	chr1:189951808-189951809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566773898	chr1:189951810-189951811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532182052	chr1:189951817-189951818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536938185	chr1:189951860-189951861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149409497	chr1:189951891-189951892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569573497	chr1:189951894-189951895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs815725	chr1:189951950-189951951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548511182	chr1:189951993-189951994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568512937	chr1:189952016-189952017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534020616	chr1:189952042-189952043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536496308	chr1:189952087-189952088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs815726	chr1:189952094-189952095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192798744	chr1:189952101-189952102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539452277	chr1:189952121-189952122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144760765	chr1:189952170-189952171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116089999	chr1:189952172-189952173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544368448	chr1:189952214-189952215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554447426	chr1:189952234-189952235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115767255	chr1:189952241-189952242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185250135	chr1:189952271-189952272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560333417	chr1:189952294-189952295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558654374	chr1:189952299-189952300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189940800-189942600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr1:189951600-189952200	Enhancers	Fetal Intestine Small	intestine
3	chr1:189951800-189952000	Enhancers	Fetal Intestine Large	intestine
4	chr1:189952000-189952600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:189952200-189952600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:189952600-189953800	Enhancers	Fetal Intestine Large	intestine
7	chr1:189952600-189954000	Enhancers	Fetal Intestine Small	intestine
8	chr1:189952800-189953800	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:189955600-189956200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:189956000-189956800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:189968400-189969600	Enhancers	A549	lung
12	chr1:189969400-189970600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:189969600-189969800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:189969600-189970600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:189969600-189970600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:189969600-189970600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:189969600-189970600	Flanking Active TSS	A549	lung
18	chr1:189969800-189970400	Enhancers	Hela-S3	cervix
19	chr1:189970000-189970400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:189970200-189971000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:189970400-189970600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:189970600-189970800	Enhancers	A549	lung
23	chr1:189979000-189979400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:189983000-189986200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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