Variant report

Variant	rs2464466
Chromosome Location	chr15:58363170-58363171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:206)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:206 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:58363160-58363310	HL-60	blood:	n/a	n/a
2	CTCF	chr15:58362972-58363317	GM20000	blood:	n/a	n/a
3	CTCF	chr15:58363160-58363310	AG09309	skin:	n/a	n/a
4	CTCF	chr15:58363160-58363310	NHLF	lung:	n/a	n/a
5	EP300	chr15:58363023-58363427	K562	blood:	n/a	n/a
6	GATA3	chr15:58363050-58363402	T-47D	breast:	n/a	chr15:58363279-58363291 chr15:58363285-58363292
7	CTCF	chr15:58363095-58363307	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr15:58363098-58363349	GM10248	blood:	n/a	n/a
9	CTCF	chr15:58363140-58363290	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr15:58363120-58363270	GM12864	blood:	n/a	n/a
11	SMC3	chr15:58363037-58363393	GM12878	blood:	n/a	n/a
12	RAD21	chr15:58363032-58363396	HepG2	liver:	n/a	n/a
13	ZNF143	chr15:58363043-58363385	K562	blood:	n/a	n/a
14	CTCF	chr15:58363092-58363325	GM19239	blood:	n/a	n/a
15	CTCF	chr15:58363160-58363310	AG09319	gingival:	n/a	n/a
16	CTCF	chr15:58363120-58363270	AG09309	skin:	n/a	n/a
17	ARID3A	chr15:58363058-58363339	HepG2	liver:	n/a	n/a
18	RFX5	chr15:58363065-58363406	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr15:58363140-58363290	HEK293	kidney:	n/a	n/a
20	CTCF	chr15:58362960-58363380	K562	blood:	n/a	n/a
21	CTCF	chr15:58363084-58363337	GM10266	blood:	n/a	n/a
22	RAD21	chr15:58362958-58363365	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr15:58363140-58363290	GM12867	blood:	n/a	n/a
24	CTCF	chr15:58363140-58363290	HCFaa	heart:	n/a	n/a
25	CTCF	chr15:58363160-58363310	HCT-116	colon:	n/a	n/a
26	RAD21	chr15:58363034-58363389	A549	lung:	n/a	n/a
27	CTCF	chr15:58363057-58363379	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr15:58363140-58363290	HepG2	liver:	n/a	n/a
29	CTCF	chr15:58363120-58363270	BE2_C	brain:	n/a	n/a
30	CTCF	chr15:58362486-58364010	A549	lung:	n/a	n/a
31	CTCF	chr15:58363160-58363310	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr15:58363120-58363270	SAEC	small airway:	n/a	n/a
33	CTCF	chr15:58363068-58363344	LNCaP	prostate:	n/a	n/a
34	CTCF	chr15:58363160-58363310	HPF	lung:	n/a	n/a
35	RAD21	chr15:58362974-58363320	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr15:58363085-58363362	GM13977	blood:	n/a	n/a
37	CTCF	chr15:58363140-58363290	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr15:58363120-58363270	NB4	blood:	n/a	n/a
39	CTCF	chr15:58363140-58363290	HPF	lung:	n/a	n/a
40	CTCF	chr15:58363140-58363290	HCM	heart:	n/a	n/a
41	CTCF	chr15:58363071-58363353	K562	blood:	n/a	n/a
42	CTCF	chr15:58363160-58363310	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr15:58363140-58363290	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr15:58363140-58363290	NHEK	skin:	n/a	n/a
45	RAD21	chr15:58363019-58363375	IMR90	lung:	n/a	n/a
46	CTCF	chr15:58363120-58363270	WI-38	lung:	n/a	n/a
47	CTCF	chr15:58363013-58363412	IMR90	lung:	n/a	n/a
48	CTCF	chr15:58363069-58363364	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr15:58363120-58363270	K562	blood:	n/a	n/a
50	CTCF	chr15:58363120-58363270	HVMF	connective:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58362436..58364377-chr15:58373826..58376648,2	K562	blood:
2	chr15:58035424..58036079-chr15:58362751..58363370,2	MCF-7	breast:
3	chr15:58261520..58262217-chr15:58362720..58363602,3	MCF-7	breast:
4	chr15:58362749..58363649-chr15:58474448..58475386,2	MCF-7	breast:
5	chr15:58335159..58335715-chr15:58362599..58363285,2	K562	blood:
6	chr15:58157674..58158877-chr15:58362866..58363674,3	MCF-7	breast:
7	chr15:58158121..58158992-chr15:58362976..58363943,6	K562	blood:
8	chr15:58361640..58363619-chr15:58378533..58380318,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP9-1	chr15:58363006-58363241	ENSG00000245722
2	lnc-AQP9-1	chr15:58363006-58363241	ENSG00000259285.1
3	lnc-AQP9-1	chr15:58363006-58363241	NONHSAT044091

No data

Variant related genes	Relation type
ALDH1A2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2464467	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2464469	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2642635	0.81[ASN][1000 genomes]
rs2642636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704188	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6493982	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8029919	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv904263	chr15:58340072-58437346	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv569596	chr15:58355798-58408763	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58362800-58363200	Enhancers	HUVEC	blood vessel
2	chr15:58363000-58363200	Enhancers	HUES64 Cell Line	embryonic stem cell

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