Variant report

Variant	nsv945674
Chromosome Location	chr1:227862668-227899939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:227895509-227895741	GM12878	blood:	n/a	n/a
2	CCNT2	chr1:227873536-227873774	K562	blood:	n/a	n/a
3	CEBPB	chr1:227873587-227873861	K562	blood:	n/a	n/a
4	CEBPB	chr1:227873673-227873815	K562	blood:	n/a	n/a
5	CEBPB	chr1:227885474-227885730	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:227885494-227885692	A549	lung:	n/a	n/a
7	CEBPB	chr1:227885478-227885700	IMR90	lung:	n/a	n/a
8	CEBPD	chr1:227873523-227873812	K562	blood:	n/a	n/a
9	CHD1	chr1:227887239-227887289	GM12878	blood:	n/a	n/a
10	CTCF	chr1:227888758-227888842	LNCaP	prostate:	n/a	n/a
11	CTCF	chr1:227883840-227883990	GM12878	blood:	n/a	n/a
12	CTCF	chr1:227883847-227883926	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:227883822-227883924	GM12892	blood:	n/a	n/a
14	CTCF	chr1:227882768-227882858	GM20000	blood:	n/a	n/a
15	CTCF	chr1:227883808-227883920	GM12891	blood:	n/a	n/a
16	CTCF	chr1:227883640-227883790	GM12869	blood:	n/a	n/a
17	CTCF	chr1:227883836-227883934	GM19238	blood:	n/a	n/a
18	CTCF	chr1:227883810-227883890	HepG2	liver:	n/a	n/a
19	CTCF	chr1:227883811-227883921	K562	blood:	n/a	n/a
20	CTCF	chr1:227885745-227885814	GM13976	blood:	n/a	n/a
21	CTCF	chr1:227865180-227865253	GM13977	blood:	n/a	n/a
22	EP300	chr1:227873504-227873791	K562	blood:	n/a	n/a
23	FAM48A	chr1:227874306-227874406	GM12878	blood:	n/a	n/a
24	FOS	chr1:227885446-227885768	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:227885457-227885756	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:227885484-227885707	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:227885454-227885746	MCF10A-Er-Src	breast:	n/a	n/a
28	GABPA	chr1:227868837-227868888	HepG2	liver:	n/a	n/a
29	GATA1	chr1:227873260-227874004	K562	blood:	n/a	n/a
30	GATA2	chr1:227866932-227867245	K562	blood:	n/a	n/a
31	GATA2	chr1:227873452-227873839	K562	blood:	n/a	n/a
32	HDAC2	chr1:227873576-227873809	K562	blood:	n/a	n/a
33	IRF1	chr1:227895648-227895964	K562	blood:	n/a	chr1:227895745-227895759
34	IRF1	chr1:227895711-227895849	K562	blood:	n/a	chr1:227895745-227895759
35	KAP1	chr1:227884470-227885611	HEK293	kidney:	n/a	n/a
36	MAFF	chr1:227878710-227878712	K562	blood:	n/a	n/a
37	MAZ	chr1:227877734-227877738	HepG2	liver:	n/a	n/a
38	NR2F2	chr1:227873386-227873882	K562	blood:	n/a	n/a
39	NR2F2	chr1:227897720-227898101	K562	blood:	n/a	n/a
40	NR2F2	chr1:227897698-227898025	K562	blood:	n/a	n/a
41	NR2F2	chr1:227873438-227873855	K562	blood:	n/a	n/a
42	NR3C1	chr1:227897735-227898203	A549	lung:	n/a	n/a
43	NR3C1	chr1:227897822-227898184	A549	lung:	n/a	n/a
44	NR3C1	chr1:227897830-227898091	A549	lung:	n/a	n/a
45	PBX3	chr1:227868830-227868924	GM12878	blood:	n/a	n/a
46	PML	chr1:227873489-227873786	K562	blood:	n/a	n/a
47	POLR2A	chr1:227881010-227881087	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr1:227868137-227868233	K562	blood:	n/a	n/a
49	POLR2A	chr1:227868851-227868868	K562	blood:	n/a	n/a
50	POLR2A	chr1:227893357-227893444	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227895918..227897799-chr1:227913898..227916573,2	K562	blood:
2	chr1:227864255..227866581-chr1:227882293..227884095,2	MCF-7	breast:
3	chr1:227750868..227753411-chr1:227876649..227879488,3	MCF-7	breast:
4	chr1:227860615..227863443-chr1:227864558..227866312,2	K562	blood:
5	chr1:227899761..227902158-chr1:227912369..227914847,2	K562	blood:
6	chr1:227864255..227866581-chr1:227882293..227884095,2	MCF-7	breast:
7	chr1:227860615..227863443-chr1:227864558..227866312,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JMJD4-2	chr1:227885275-227885408	NONHSAT009937
2	lnc-JMJD4-2	chr1:227893668-227893717	NONHSAT009935
3	lnc-JMJD4-2	chr1:227894258-227894400	NONHSAT009935
4	lnc-JMJD4-2	chr1:227885831-227885904	NONHSAT009935
5	lnc-JMJD4-2	chr1:227884733-227884867	NONHSAT009936
6	lnc-JMJD4-2	chr1:227885286-227885408	NONHSAT009936
7	lnc-JMJD4-2	chr1:227884733-227884856	NONHSAT009937
8	lnc-JMJD4-2	chr1:227885361-227885635	NONHSAT009935
9	lnc-JMJD4-2	chr1:227884593-227885127	NONHSAT009935

No data

Variant related genes	Relation type
ZNF847P	TF binding region
ENSG00000143740	chromatin interactions
ENSG00000181450	chromatin interactions

Extended variants
information (count: 519 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550558688	chr1:227862699-227862700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs199960165	chr1:227862720-227862721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs568711490	chr1:227862735-227862736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs140308482	chr1:227862779-227862780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144153306	chr1:227862799-227862800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs570791271	chr1:227862874-227862875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192709779	chr1:227862904-227862905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369893935	chr1:227862912-227862913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs184839062	chr1:227862917-227862918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553120925	chr1:227862963-227862964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs373308781	chr1:227863092-227863093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12129451	chr1:227863309-227863310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574605121	chr1:227863335-227863336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528969774	chr1:227863339-227863340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs76538149	chr1:227863340-227863341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12059899	chr1:227863409-227863410	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs147862815	chr1:227863431-227863432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs117654232	chr1:227863432-227863433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs141422057	chr1:227863448-227863449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150357195	chr1:227863479-227863480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs145012334	chr1:227863514-227863515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs115592313	chr1:227863636-227863637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs529000074	chr1:227863735-227863736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs114117932	chr1:227863759-227863760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562592655	chr1:227863835-227863836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116402928	chr1:227863858-227863859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs149076257	chr1:227863922-227863923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187603226	chr1:227863948-227863949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575348088	chr1:227863959-227863960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192035226	chr1:227863960-227863961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs143293775	chr1:227864419-227864420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370661892	chr1:227864426-227864427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184667803	chr1:227864455-227864456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550975759	chr1:227864465-227864466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559674956	chr1:227864468-227864469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527290577	chr1:227864492-227864493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546931612	chr1:227864513-227864514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568401402	chr1:227864529-227864530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535698786	chr1:227864541-227864542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373843018	chr1:227864553-227864554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559918410	chr1:227864578-227864579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569267494	chr1:227864581-227864582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573221397	chr1:227864591-227864592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539881962	chr1:227864671-227864672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558186498	chr1:227864672-227864673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377617718	chr1:227864680-227864681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371277184	chr1:227864685-227864686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188116098	chr1:227864728-227864729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377615208	chr1:227864738-227864739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78834757	chr1:227864763-227864764	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227831800-227864000	ZNF genes & repeats	Liver	Liver
2	chr1:227863600-227864000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr1:227864400-227864800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:227864800-227865200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
5	chr1:227864800-227866600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr1:227864800-227868200	ZNF genes & repeats	Liver	Liver
7	chr1:227865000-227866200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:227865000-227866200	ZNF genes & repeats	Colon Smooth Muscle	Colon
9	chr1:227865000-227866600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr1:227866000-227866600	ZNF genes & repeats	Fetal Brain Female	brain
11	chr1:227880200-227881200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr1:227883600-227886200	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr1:227884600-227886000	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr1:227895400-227895800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:227895400-227896000	Enhancers	Dnd41	blood
16	chr1:227895400-227896200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:227895600-227896000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:227895600-227896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:227895600-227896000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:227895600-227896000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:227895600-227896200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:227895800-227896200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:227899600-227899800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:227899600-227900400	ZNF genes & repeats	GM12878-XiMat	blood

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