Variant report

Variant	esv1816964
Chromosome Location	chr1:246678242-246686302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:246678364-246679339	K562	blood:	n/a	n/a
2	CBX3	chr1:246678506-246679153	HCT-116	colon:	n/a	n/a
3	CBX3	chr1:246678327-246679192	K562	blood:	n/a	n/a
4	CBX3	chr1:246678484-246679166	HCT-116	colon:	n/a	n/a
5	CTCF	chr1:246683706-246683740	GM10266	blood:	n/a	n/a
6	CTCF	chr1:246685009-246685072	LNCaP	prostate:	n/a	n/a
7	JUN	chr1:246678757-246679003	K562	blood:	n/a	n/a
8	KAP1	chr1:246678300-246679429	K562	blood:	n/a	n/a
9	KAP1	chr1:246678618-246679071	U2OS	brain:	n/a	n/a
10	MYC	chr1:246678796-246678914	K562	blood:	n/a	n/a
11	POU2F2	chr1:246678805-246678941	GM12878	blood:	n/a	n/a
12	POU2F2	chr1:246678786-246679079	GM12878	blood:	n/a	n/a
13	RCOR1	chr1:246678483-246679279	IMR90	lung:	n/a	n/a
14	SETDB1	chr1:246678303-246679323	U2OS	brain:	n/a	n/a
15	SETDB1	chr1:246678377-246679115	K562	blood:	n/a	n/a
16	SETDB1	chr1:246678163-246679572	K562	blood:	n/a	n/a
17	SETDB1	chr1:246679814-246680908	K562	blood:	n/a	n/a
18	SP1	chr1:246678755-246679027	GM12878	blood:	n/a	n/a
19	SP1	chr1:246678833-246679072	GM12878	blood:	n/a	n/a
20	TCF12	chr1:246678423-246679317	A549	lung:	n/a	n/a
21	TCF12	chr1:246678798-246679009	GM12878	blood:	n/a	n/a
22	TCF12	chr1:246678816-246679012	GM12878	blood:	n/a	n/a
23	TRIM28	chr1:246678671-246679072	K562	blood:	n/a	n/a
24	TRIM28	chr1:246678511-246679201	K562	blood:	n/a	n/a
25	USF1	chr1:246678646-246679067	ECC-1	luminal epithelium:	n/a	n/a
26	USF1	chr1:246678737-246679068	A549	lung:	n/a	n/a
27	USF1	chr1:246678807-246679024	GM12878	blood:	n/a	n/a
28	USF1	chr1:246678674-246679008	K562	blood:	n/a	n/a
29	ZNF143	chr1:246678744-246679035	GM12878	blood:	n/a	n/a
30	ZNF143	chr1:246678706-246679033	K562	blood:	n/a	n/a
31	ZNF143	chr1:246678748-246679021	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246684329-246684379	NH-A	brain:	n/a
2	chr1:246684329-246684379	NT2-D1	testis:	n/a
3	chr1:246684113-246684163	HIPEpiC	eye:	n/a
4	chr1:246684329-246684379	AG10803	skin:	n/a
5	chr1:246684329-246684379	NHDF-neo	bronchial:	n/a
6	chr1:246684113-246684163	SK-N-SH	brain:	n/a
7	chr1:246684113-246684163	HL-60	blood:	n/a
8	chr1:246684113-246684163	PFSK-1	brain:	n/a
9	chr1:246684329-246684379	HUVEC	blood vessel:	n/a
10	chr1:246684113-246684163	K562	blood:	n/a
11	chr1:246684329-246684379	HCF	heart:	n/a
12	chr1:246684329-246684379	HCT-116	colon:	n/a
13	chr1:246684329-246684379	SK-N-SH_RA	brain:	n/a
14	chr1:246684329-246684379	T-47D	breast:	n/a
15	chr1:246684113-246684163	HCF	heart:	n/a
16	chr1:246684329-246684379	SK-N-SH	brain:	n/a
17	chr1:246684329-246684379	PrEC	prostate:	n/a
18	chr1:246684113-246684163	SK-N-SH_RA	brain:	n/a
19	chr1:246684329-246684379	NB4	blood:	n/a
20	chr1:246684329-246684379	HL-60	blood:	n/a
21	chr1:246684113-246684163	HEK293	kidney:	embryo
22	chr1:246684329-246684379	SK-N-MC	brain:	n/a
23	chr1:246684113-246684163	HMEC	breast:	n/a
24	chr1:246684329-246684379	AG04450	lung:	fetal
25	chr1:246684329-246684379	PFSK-1	brain:	n/a
26	chr1:246684113-246684163	GM12892	blood:	n/a
27	chr1:246684113-246684163	A549	lung:	n/a
28	chr1:246684329-246684379	AG09309	skin:	n/a
29	chr1:246684113-246684163	AG10803	skin:	n/a
30	chr1:246684329-246684379	AG09319	gingival:	n/a
31	chr1:246684113-246684163	HCT-116	colon:	n/a
32	chr1:246684329-246684379	Hela-S3	cervix:	n/a
33	chr1:246684329-246684379	HAEpiC	amniotic membrane:	n/a
34	chr1:246684329-246684379	HEEpiC	esophagus:	n/a
35	chr1:246684329-246684379	AG04449	skin:	fetal
36	chr1:246684113-246684163	AG09309	skin:	n/a
37	chr1:246684329-246684379	LNCaP	prostate:	n/a
38	chr1:246684329-246684379	HCM	heart:	n/a
39	chr1:246684113-246684163	HCPEpiC	choroid plexus:	n/a
40	chr1:246684113-246684163	LNCaP	prostate:	n/a
41	chr1:246684329-246684379	HepG2	liver:	n/a
42	chr1:246684113-246684163	NHDF-neo	bronchial:	n/a
43	chr1:246684113-246684163	AoSMC	blood vessel:	n/a
44	chr1:246684329-246684379	HRE	kidney:	n/a
45	chr1:246684113-246684163	NHBE	bronchial:	n/a
46	chr1:246684113-246684163	GM06990	blood:	n/a
47	chr1:246684329-246684379	HEK293	kidney:	embryo
48	chr1:246684113-246684163	SKMC	muscle:	n/a
49	chr1:246684113-246684163	U87	brain:	n/a
50	chr1:246684329-246684379	CMK	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246680075..246681714-chr1:246684033..246686969,2	K562	blood:
2	chr1:246679194..246683104-chr1:246689621..246693878,4	K562	blood:
3	chr1:246685591..246688881-chr1:246727054..246730014,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227728	TF binding region
ENSG00000230813	TF binding region
ENSG00000227728	CpG island
ENSG00000230813	CpG island
ENSG00000162852	chromatin interactions
ENSG00000162851	chromatin interactions
ENSG00000227728	chromatin interactions
ENSG00000230813	chromatin interactions
ENSG00000229112	chromatin interactions

Extended variants
information (count: 285 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:285 , 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	rs79661799	chr1:246678271-246678272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185914250	chr1:246678319-246678320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191158253	chr1:246678330-246678331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551914930	chr1:246678354-246678355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562536400	chr1:246678368-246678369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114550254	chr1:246678374-246678375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560362385	chr1:246678385-246678386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs568183807	chr1:246678400-246678401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs533736305	chr1:246678412-246678413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527579961	chr1:246678426-246678427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567121593	chr1:246678435-246678436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539350528	chr1:246678455-246678456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs142713816	chr1:246678458-246678459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12071702	chr1:246678467-246678468	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538459899	chr1:246678561-246678562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554748978	chr1:246678585-246678586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs574901319	chr1:246678588-246678589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs540189843	chr1:246678598-246678599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs376436411	chr1:246678679-246678680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560127325	chr1:246678693-246678694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183780258	chr1:246678732-246678733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187616374	chr1:246678733-246678734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs3124091	chr1:246678766-246678767	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531391416	chr1:246678782-246678783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190929878	chr1:246678794-246678795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376042493	chr1:246679208-246679209	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs139208845	chr1:246679214-246679215	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs183417004	chr1:246679223-246679224	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149950375	chr1:246679250-246679251	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369417915	chr1:246679252-246679253	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200921106	chr1:246679253-246679254	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144044348	chr1:246679263-246679264	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs73136181	chr1:246679271-246679272	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs139898479	chr1:246679286-246679287	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs56348928	chr1:246679308-246679309	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs541612002	chr1:246679314-246679315	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs59909467	chr1:246679324-246679325	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561927401	chr1:246679345-246679346	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75034933	chr1:246679358-246679359	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs79152447	chr1:246679361-246679362	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566308179	chr1:246679394-246679395	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs370503096	chr1:246679402-246679403	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs143369162	chr1:246679449-246679450	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564194586	chr1:246679456-246679457	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532939838	chr1:246679461-246679462	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs192626620	chr1:246679462-246679463	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs6696360	chr1:246679494-246679495	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532043303	chr1:246679508-246679509	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183845887	chr1:246679560-246679561	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146592270	chr1:246679567-246679568	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	19805367	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246678200-246678800	ZNF genes & repeats	HepG2	liver
2	chr1:246680200-246682400	Weak transcription	Right Atrium	heart
3	chr1:246680600-246683000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:246681600-246681800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:246685400-246685600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:246685600-246687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:246686200-246686400	Bivalent Enhancer	HepG2	liver

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