Variant report

Variant	nsv3832
Chromosome Location	chr1:184784442-184792671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:184791448-184791676	GM12878	blood:	n/a	n/a
2	BATF	chr1:184791363-184791730	GM12878	blood:	n/a	n/a
3	CTCF	chr1:184788720-184788870	SAEC	small airway:	n/a	n/a
4	KAP1	chr1:184792220-184792716	U2OS	brain:	n/a	n/a
5	KAP1	chr1:184792192-184792779	HEK293	kidney:	n/a	n/a
6	MAFK	chr1:184791893-184791954	HepG2	liver:	n/a	n/a
7	MAFK	chr1:184791870-184791941	HepG2	liver:	n/a	chr1:184791884-184791899
8	MAX	chr1:184792040-184792941	Hela-S3	cervix:	n/a	n/a
9	MYC	chr1:184792063-184792673	Hela-S3	cervix:	n/a	n/a
10	NFIC	chr1:184791433-184791809	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr1:184790701-184794355	K562	blood:	n/a	n/a
12	POLR2A	chr1:184784542-184784685	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr1:184786897-184786997	K562	blood:	n/a	n/a
14	POLR2A	chr1:184787423-184790398	K562	blood:	n/a	n/a
15	POLR2A	chr1:184784273-184785207	K562	blood:	n/a	n/a
16	POLR2A	chr1:184785431-184786295	K562	blood:	n/a	n/a
17	RUNX3	chr1:184791361-184791736	GM12878	blood:	n/a	n/a
18	RUNX3	chr1:184791388-184791739	GM12878	blood:	n/a	n/a
19	SPI1	chr1:184790402-184790527	K562	blood:	n/a	n/a
20	SPI1	chr1:184791400-184791642	GM12891	blood:	n/a	n/a
21	SPI1	chr1:184792545-184793004	HL-60	blood:	n/a	chr1:184792709-184792722
22	STAT3	chr1:184792163-184792252	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr1:184789684-184789811	MCF10A-Er-Src	breast:	n/a	n/a
24	TCF7L2	chr1:184792193-184792512	HEK293	kidney:	n/a	n/a
25	TCF7L2	chr1:184791867-184792898	Hela-S3	cervix:	n/a	n/a
26	USF2	chr1:184789007-184789014	K562	blood:	n/a	n/a
27	USF2	chr1:184792298-184792674	Hela-S3	cervix:	n/a	n/a
28	ZNF263	chr1:184792266-184792710	HEK293-T-REx	kidney:	n/a	chr1:184792529-184792538

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:184791911-184791961	SK-N-SH_RA	brain:	n/a
2	chr1:184791911-184791961	AG09319	gingival:	n/a
3	chr1:184791911-184791961	CMK	blood:	n/a
4	chr1:184791911-184791961	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:184791911-184791961	HCM	heart:	n/a
6	chr1:184791911-184791961	LNCaP	prostate:	n/a
7	chr1:184791911-184791961	SK-N-MC	brain:	n/a
8	chr1:184791911-184791961	PFSK-1	brain:	n/a
9	chr1:184791911-184791961	GM12878	blood:	n/a
10	chr1:184791911-184791961	HL-60	blood:	n/a
11	chr1:184791911-184791961	PrEC	prostate:	n/a
12	chr1:184791911-184791961	HUVEC	blood vessel:	n/a
13	chr1:184791911-184791961	IMR90	lung:	fetal
14	chr1:184791911-184791961	BE2_C	brain:	n/a
15	chr1:184791911-184791961	NT2-D1	testis:	n/a
16	chr1:184791911-184791961	ovcar-3	ovarian:	n/a
17	chr1:184791911-184791961	AoSMC	blood vessel:	n/a
18	chr1:184791911-184791961	AG10803	skin:	n/a
19	chr1:184791911-184791961	HEK293	kidney:	embryo
20	chr1:184791911-184791961	AG09309	skin:	n/a
21	chr1:184791911-184791961	HRPEpiC	eye:	n/a
22	chr1:184791911-184791961	HCF	heart:	n/a
23	chr1:184791911-184791961	MCF10A-Er-Src	breast:	n/a
24	chr1:184791911-184791961	K562	blood:	n/a
25	chr1:184791911-184791961	MCF-7	breast:	n/a
26	chr1:184791911-184791961	AG04450	lung:	fetal
27	chr1:184791911-184791961	ProgFib	skin:	n/a
28	chr1:184791911-184791961	HRCEpiC	kidney:	n/a
29	chr1:184791911-184791961	Hepatocyte	liver:	n/a
30	chr1:184791911-184791961	HMEC	breast:	n/a
31	chr1:184791911-184791961	GM12891	blood:	n/a
32	chr1:184791911-184791961	HEEpiC	esophagus:	n/a
33	chr1:184791911-184791961	HepG2	liver:	n/a
34	chr1:184791911-184791961	HRE	kidney:	n/a
35	chr1:184791911-184791961	T-47D	breast:	n/a
36	chr1:184791911-184791961	NH-A	brain:	n/a
37	chr1:184791911-184791961	HAEpiC	amniotic membrane:	n/a
38	chr1:184791911-184791961	SK-N-SH	brain:	n/a
39	chr1:184791911-184791961	SKMC	muscle:	n/a
40	chr1:184791911-184791961	HNPCEpiC	eye:	n/a
41	chr1:184791911-184791961	NB4	blood:	n/a
42	chr1:184791911-184791961	GM19239	blood:	n/a
43	chr1:184791911-184791961	SAEC	small airway:	n/a
44	chr1:184791911-184791961	GM06990	blood:	n/a
45	chr1:184791911-184791961	Jurkat	blood:	n/a
46	chr1:184791911-184791961	HIPEpiC	eye:	n/a
47	chr1:184791911-184791961	BJ	skin:	n/a
48	chr1:184791911-184791961	RPTEC	kidney:	n/a
49	chr1:184791911-184791961	AG04449	skin:	fetal
50	chr1:184791911-184791961	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184792419..184794231-chr1:184807595..184809855,2	K562	blood:

No data

Variant related genes	Relation type
RNU7-13P	TF binding region
RNU7-13P	CpG island

Extended variants
information (count: 288 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546780090	chr1:184784447-184784448	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571461692	chr1:184784467-184784468	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142724435	chr1:184784488-184784489	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186465601	chr1:184784539-184784540	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147635392	chr1:184784717-184784718	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528958921	chr1:184784728-184784729	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142216069	chr1:184784773-184784774	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554416742	chr1:184784797-184784798	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373714699	chr1:184784825-184784826	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189029518	chr1:184784865-184784866	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540291195	chr1:184784879-184784880	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565074637	chr1:184784884-184784885	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4351603	chr1:184784889-184784890	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577081582	chr1:184784908-184784909	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548721950	chr1:184784918-184784919	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55637494	chr1:184784970-184784971	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562783157	chr1:184784977-184784978	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181748467	chr1:184785005-184785006	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549354306	chr1:184785018-184785019	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114297573	chr1:184785047-184785048	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56054400	chr1:184785059-184785060	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6671637	chr1:184785077-184785078	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs546662155	chr1:184785090-184785091	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571524138	chr1:184785093-184785094	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558448212	chr1:184785113-184785114	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541341537	chr1:184785193-184785194	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559589701	chr1:184785248-184785249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111274530	chr1:184785303-184785304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186419396	chr1:184785349-184785350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141669806	chr1:184785353-184785354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572827932	chr1:184785423-184785424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533893497	chr1:184785425-184785426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558648746	chr1:184785445-184785446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115657025	chr1:184785489-184785490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544372591	chr1:184785500-184785501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562686952	chr1:184785525-184785526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570605247	chr1:184785552-184785553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574665954	chr1:184785553-184785554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150420373	chr1:184785577-184785578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111731279	chr1:184785612-184785613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560970121	chr1:184785651-184785652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528435606	chr1:184785738-184785739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546725247	chr1:184785757-184785758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563894162	chr1:184785812-184785813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191315409	chr1:184785833-184785834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138169210	chr1:184785855-184785856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs641337	chr1:184785921-184785922	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183316635	chr1:184785929-184785930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370737052	chr1:184785939-184785940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185833372	chr1:184785985-184785986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Bladder cancer	19088036	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
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184762000-184787800	Weak transcription	Spleen	Spleen
3	chr1:184762400-184789400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:184762600-184792800	Weak transcription	Colonic Mucosa	Colon
5	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:184770800-184787000	Weak transcription	Gastric	stomach
7	chr1:184772000-184792000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:184772400-184801800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:184772800-184790600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:184775200-184787400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:184775400-184787800	Weak transcription	Esophagus	oesophagus
13	chr1:184775400-184791600	Weak transcription	Stomach Mucosa	stomach
14	chr1:184775600-184796800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:184775800-184794000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:184777000-184792200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:184777400-184791600	Weak transcription	Pancreas	Pancrea
18	chr1:184777600-184786800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:184777600-184787600	Weak transcription	Lung	lung
20	chr1:184777800-184787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:184778000-184787600	Weak transcription	Aorta	Aorta
22	chr1:184778000-184789400	Weak transcription	K562	blood
23	chr1:184778000-184791400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:184778200-184787200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:184780400-184787400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:184780400-184787600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:184780400-184789400	Weak transcription	Fetal Stomach	stomach
28	chr1:184781200-184785400	Weak transcription	Right Ventricle	heart
29	chr1:184781200-184793400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:184781400-184786800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:184781400-184790000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:184781400-184792000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:184781600-184785200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr1:184781600-184790800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:184781600-184793400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:184782000-184786200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:184782000-184789800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:184783000-184785400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:184783000-184787600	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:184783000-184807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:184783200-184786800	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:184783200-184787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:184783200-184787600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:184783200-184788600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:184783200-184789400	Weak transcription	NHEK	skin
46	chr1:184783200-184789600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:184783200-184791200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:184783200-184791200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:184783200-184796400	Weak transcription	NHLF	lung
50	chr1:184783200-184796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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