Variant report

Variant	rs17024432
Chromosome Location	chr1:120428831-120428832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:120428495-120429352	SK-N-SH	brain:	n/a	chr1:120428706-120428719
2	FOXP2	chr1:120428830-120429092	SK-N-MC	brain:	n/a	n/a
3	SMC3	chr1:120428812-120429147	K562	blood:	n/a	n/a
4	CREB1	chr1:120428735-120429177	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:120428820-120428970	HFF	foreskin:	n/a	n/a
6	CTCF	chr1:120428781-120429147	K562	blood:	n/a	n/a
7	ZNF143	chr1:120428815-120429141	GM12878	blood:	n/a	n/a
8	ZNF143	chr1:120428826-120429133	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:120428823-120429105	GM19240	blood:	n/a	n/a
10	CTCF	chr1:120428824-120429110	HUVEC	blood vessel:	n/a	n/a
11	SMC3	chr1:120428140-120429290	SK-N-SH	brain:	n/a	chr1:120428755-120428762
12	RAD21	chr1:120428573-120429405	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr1:120428711-120429114	K562	blood:	n/a	n/a
14	CTCF	chr1:120428746-120429217	HCT-116	colon:	n/a	n/a
15	CTCF	chr1:120428831-120429113	GM12891	blood:	n/a	n/a
16	RAD21	chr1:120428812-120429173	ECC-1	luminal epithelium:	n/a	n/a
17	RAD21	chr1:120428810-120429111	A549	lung:	n/a	n/a
18	CTCF	chr1:120428809-120429118	Fibrobl	skin:	n/a	n/a
19	CTCF	chr1:120428811-120429126	Gliobla	brain:	n/a	n/a
20	CTCF	chr1:120428806-120429124	A549	lung:	n/a	n/a
21	SMC3	chr1:120428809-120429153	GM12878	blood:	n/a	n/a
22	CTCF	chr1:120428704-120429185	K562	blood:	n/a	chr1:120428706-120428719
23	CTCF	chr1:120428758-120429231	IMR90	lung:	n/a	n/a
24	RAD21	chr1:120428683-120429327	HCT-116	colon:	n/a	n/a
25	RAD21	chr1:120428681-120429280	ECC-1	luminal epithelium:	n/a	n/a
26	RAD21	chr1:120428783-120429156	HepG2	liver:	n/a	n/a
27	RAD21	chr1:120428738-120429188	HepG2	liver:	n/a	n/a
28	CTCF	chr1:120428791-120429079	K562	blood:	n/a	n/a
29	RAD21	chr1:120428747-120429260	HepG2	liver:	n/a	n/a
30	CTCF	chr1:120428824-120429113	ProgFib	skin:	n/a	n/a
31	CTCF	chr1:120428820-120428970	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr1:120428809-120429117	GM12878	blood:	n/a	n/a
33	RCOR1	chr1:120428813-120429124	K562	blood:	n/a	n/a
34	CTCF	chr1:120428754-120429214	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF143	chr1:120428823-120429141	K562	blood:	n/a	n/a
36	CTCF	chr1:120428760-120428910	WI-38	lung:	n/a	n/a
37	PAX5	chr1:120428830-120429104	GM12878	blood:	n/a	chr1:120428862-120428871
38	CTCF	chr1:120428800-120429116	SK-N-SH_RA	brain:	n/a	n/a
39	GTF2F1	chr1:120428827-120429024	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr1:120428679-120429248	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr1:120428819-120429109	MCF-7	breast:	n/a	n/a
42	RAD21	chr1:120428784-120429195	IMR90	lung:	n/a	n/a
43	RAD21	chr1:120428816-120429059	GM12878	blood:	n/a	n/a
44	RAD21	chr1:120428810-120429207	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr1:120428562-120429225	HCT-116	colon:	n/a	chr1:120428706-120428719
46	CTCF	chr1:120428791-120429123	GM19238	blood:	n/a	n/a
47	CTCF	chr1:120428543-120429302	A549	lung:	n/a	chr1:120428706-120428719
48	CTCF	chr1:120428785-120429110	GM13977	blood:	n/a	n/a
49	CTCF	chr1:120428755-120429161	H1-hESC	embryonic stem cell:	n/a	n/a
50	SMC3	chr1:120428779-120429201	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120428374..120430929-chr1:144532739..144535945,3	K562	blood:

No data

Variant related genes	Relation type
NOTCH2P1	TF binding region
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10127888	1.00[CHB][hapmap]
rs10923920	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923931	1.00[CHB][hapmap]
rs12057420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060624	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12061487	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061529	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097800	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493694	1.00[CHB][hapmap]
rs17186372	1.00[CHB][hapmap]
rs17258599	1.00[CHB][hapmap]
rs2027447	1.00[CHB][hapmap]
rs2453040	1.00[CHB][hapmap]
rs2453058	1.00[CHB][hapmap]
rs2493389	1.00[CHB][hapmap]
rs2493391	1.00[CHB][hapmap]
rs2493392	1.00[CHB][hapmap]
rs2493394	1.00[CHB][hapmap]
rs2641317	1.00[CHB][hapmap]
rs2641346	1.00[CHB][hapmap]
rs2641352	1.00[CHB][hapmap]
rs2793829	1.00[CHB][hapmap]
rs2793831	1.00[CHB][hapmap]
rs2934381	1.00[CHB][hapmap]
rs2934387	1.00[CHB][hapmap]
rs327194	1.00[CHB][hapmap]
rs327205	1.00[CHB][hapmap]
rs3897478	1.00[CHB][hapmap]
rs3911328	1.00[CHB][hapmap]
rs60234477	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60949447	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61447698	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668119	1.00[CHB][hapmap]
rs6669867	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67591840	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67765421	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67905606	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699779	1.00[CHB][hapmap]
rs7515431	1.00[CHB][hapmap]
rs7534585	1.00[CHB][hapmap]
rs7534586	1.00[CHB][hapmap]
rs835575	1.00[CHB][hapmap]
rs835576	1.00[CHB][hapmap]
rs9662844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv436325	chr1:120390914-120471049	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv547625	chr1:120422705-120466108	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr1:120428600-120429000	Enhancers	Liver	Liver
2	chr1:120428800-120430400	Weak transcription	Aorta	Aorta

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