Variant report

Variant	nsv549551
Chromosome Location	chr1:247279212-247282034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:247280963-247282452	K562	blood:	n/a	n/a
2	CBX3	chr1:247278814-247282541	K562	blood:	n/a	n/a
3	CBX3	chr1:247279956-247280480	K562	blood:	n/a	n/a
4	CBX3	chr1:247279022-247279825	K562	blood:	n/a	n/a
5	CBX3	chr1:247280516-247280801	K562	blood:	n/a	n/a
6	NR2F2	chr1:247279088-247280368	K562	blood:	n/a	n/a
7	NR2F2	chr1:247279103-247282442	K562	blood:	n/a	n/a
8	NR2F2	chr1:247280413-247282550	K562	blood:	n/a	n/a
9	RXRA	chr1:247280566-247280975	HepG2	liver:	n/a	n/a
10	RXRA	chr1:247279603-247280012	HepG2	liver:	n/a	n/a
11	RXRA	chr1:247280062-247280554	HepG2	liver:	n/a	n/a
12	RXRA	chr1:247281025-247281405	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr1:247281141-247281315	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr1:247280682-247280856	HepG2	liver:	n/a	n/a
15	SIN3AK20	chr1:247279719-247279893	HepG2	liver:	n/a	n/a
16	SIN3AK20	chr1:247280178-247280397	HepG2	liver:	n/a	n/a
17	SP1	chr1:247279112-247279843	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247279205-247279255	HRPEpiC	eye:	n/a
2	chr1:247279205-247279255	AG04449	skin:	fetal
3	chr1:247279205-247279255	CMK	blood:	n/a
4	chr1:247279205-247279255	AG10803	skin:	n/a
5	chr1:247279205-247279255	HL-60	blood:	n/a
6	chr1:247279205-247279255	HNPCEpiC	eye:	n/a
7	chr1:247279205-247279255	LNCaP	prostate:	n/a
8	chr1:247279205-247279255	NT2-D1	testis:	n/a
9	chr1:247279205-247279255	HCPEpiC	choroid plexus:	n/a
10	chr1:247279205-247279255	NB4	blood:	n/a
11	chr1:247279205-247279255	GM12891	blood:	n/a
12	chr1:247279205-247279255	AG04450	lung:	fetal
13	chr1:247279205-247279255	ECC-1	luminal epithelium:	n/a
14	chr1:247279205-247279255	NHBE	bronchial:	n/a
15	chr1:247279205-247279255	HAEpiC	amniotic membrane:	n/a
16	chr1:247279205-247279255	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:247279205-247279255	AG09319	gingival:	n/a
18	chr1:247279205-247279255	GM19239	blood:	n/a
19	chr1:247279205-247279255	GM12892	blood:	n/a
20	chr1:247279205-247279255	RPTEC	kidney:	n/a
21	chr1:247279205-247279255	SK-N-SH_RA	brain:	n/a
22	chr1:247279205-247279255	HEK293	kidney:	embryo
23	chr1:247279205-247279255	A549	lung:	n/a
24	chr1:247279205-247279255	SK-N-SH	brain:	n/a
25	chr1:247279205-247279255	GM12878	blood:	n/a
26	chr1:247279205-247279255	HIPEpiC	eye:	n/a
27	chr1:247279205-247279255	Hela-S3	cervix:	n/a
28	chr1:247279205-247279255	HRCEpiC	kidney:	n/a
29	chr1:247279205-247279255	SKMC	muscle:	n/a
30	chr1:247279205-247279255	BJ	skin:	n/a
31	chr1:247279205-247279255	K562	blood:	n/a
32	chr1:247279205-247279255	T-47D	breast:	n/a
33	chr1:247279205-247279255	ProgFib	skin:	n/a
34	chr1:247279205-247279255	HepG2	liver:	n/a
35	chr1:247279205-247279255	Caco-2	colon:	n/a
36	chr1:247279205-247279255	NHDF-neo	bronchial:	n/a
37	chr1:247279205-247279255	NH-A	brain:	n/a
38	chr1:247279205-247279255	HCT-116	colon:	n/a
39	chr1:247279205-247279255	SAEC	small airway:	n/a
40	chr1:247279205-247279255	AG09309	skin:	n/a
41	chr1:247279205-247279255	U87	brain:	n/a
42	chr1:247279205-247279255	HEEpiC	esophagus:	n/a
43	chr1:247279205-247279255	SK-N-MC	brain:	n/a
44	chr1:247279205-247279255	BE2_C	brain:	n/a
45	chr1:247279205-247279255	AoSMC	blood vessel:	n/a
46	chr1:247279205-247279255	HCM	heart:	n/a
47	chr1:247279205-247279255	Hepatocyte	liver:	n/a
48	chr1:247279205-247279255	GM06990	blood:	n/a
49	chr1:247279205-247279255	HCF	heart:	n/a
50	chr1:247279205-247279255	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:247273239..247275061-chr1:247277041..247280302,3	K562	blood:
2	chr1:247274786..247276587-chr1:247277453..247279795,2	MCF-7	breast:
3	chr1:247241666..247243646-chr1:247278123..247279948,2	K562	blood:

No data

Variant related genes	Relation type
FGFR3P6	TF binding region
C1orf229	TF binding region
FGFR3P6	CpG island
C1orf229	CpG island
ENSG00000135747	chromatin interactions
ENSG00000221953	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530163283	chr1:247279215-247279216	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs199749806	chr1:247279216-247279217	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs546686788	chr1:247279230-247279231	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs111798000	chr1:247279241-247279242	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs112810058	chr1:247279244-247279245	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs367663067	chr1:247279249-247279250	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs202040670	chr1:247279276-247279277	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs200533977	chr1:247279322-247279323	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs1192847	chr1:247279353-247279354	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs28461452	chr1:247279368-247279369	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs567304997	chr1:247279399-247279400	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs371720918	chr1:247279414-247279415	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs28561917	chr1:247279460-247279461	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs28378832	chr1:247279482-247279483	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs28571749	chr1:247279538-247279539	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs28489280	chr1:247279582-247279583	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs28606523	chr1:247279584-247279585	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs28612339	chr1:247279645-247279646	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs28705205	chr1:247279665-247279666	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs28507145	chr1:247279667-247279668	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs200139656	chr1:247279691-247279692	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs55815441	chr1:247279802-247279803	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs201706516	chr1:247279873-247279874	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs201274933	chr1:247279962-247279963	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs200698161	chr1:247280136-247280137	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs373975432	chr1:247280273-247280274	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs55851721	chr1:247280312-247280313	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs200448724	chr1:247280466-247280467	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs201450624	chr1:247280700-247280701	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs200371324	chr1:247281295-247281296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs566569058	chr1:247281328-247281329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs1212570	chr1:247281510-247281511	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs1212898	chr1:247281525-247281526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1212899	chr1:247281602-247281603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs55787515	chr1:247281769-247281770	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs538005065	chr1:247281874-247281875	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs367889905	chr1:247281904-247281905	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs12748377	chr1:247281942-247281943	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371998562	chr1:247281950-247281951	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12748386	chr1:247281963-247281964	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs12748393	chr1:247281982-247281983	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247276600-247284600	Weak transcription	Right Ventricle	heart
2	chr1:247276800-247283000	Weak transcription	Spleen	Spleen
3	chr1:247279000-247290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:247279200-247282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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