Variant report

Variant	rs2297560
Chromosome Location	chr1:160854698-160854699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr1:160854478-160854768	GM12878	blood:	n/a	n/a
2	SMC3	chr1:160854235-160854830	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr1:160854560-160854710	NHEK	skin:	n/a	n/a
4	RAD21	chr1:160854486-160854755	HepG2	liver:	n/a	n/a
5	CTCF	chr1:160854560-160854710	GM12874	blood:	n/a	n/a
6	CTCF	chr1:160854507-160854736	GM12878	blood:	n/a	n/a
7	RAD21	chr1:160854453-160854714	HepG2	liver:	n/a	n/a
8	JUND	chr1:160854472-160854760	H1-hESC	embryonic stem cell:	n/a	chr1:160854599-160854610
9	CTCF	chr1:160854515-160854729	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr1:160854560-160854710	HEK293	kidney:	n/a	n/a
11	ZNF143	chr1:160854435-160854788	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr1:160854660-160854810	NHEK	skin:	n/a	n/a
13	CTCF	chr1:160854600-160854750	GM12864	blood:	n/a	n/a
14	CTCF	chr1:160854409-160854798	HepG2	liver:	n/a	n/a
15	CTCF	chr1:160854580-160854730	GM12866	blood:	n/a	n/a
16	RAD21	chr1:160854422-160854793	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:160854620-160854770	A549	lung:	n/a	n/a
18	CTCF	chr1:160854436-160854844	K562	blood:	n/a	n/a
19	SMC3	chr1:160854529-160854763	K562	blood:	n/a	n/a
20	CTCF	chr1:160854560-160854710	GM06990	blood:	n/a	n/a
21	CTCF	chr1:160854510-160854749	K562	blood:	n/a	n/a
22	ELF1	chr1:160854316-160854751	K562	blood:	n/a	chr1:160854558-160854567 chr1:160854555-160854568 chr1:160854557-160854568 chr1:160854557-160854568
23	CTCF	chr1:160854560-160854710	GM12864	blood:	n/a	n/a
24	RAD21	chr1:160854460-160854784	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr1:160854560-160854710	GM12873	blood:	n/a	n/a
26	CTCF	chr1:160854580-160854730	GM12868	blood:	n/a	n/a
27	CTCF	chr1:160854580-160854730	K562	blood:	n/a	n/a
28	USF2	chr1:160854522-160854737	Hela-S3	cervix:	n/a	n/a
29	MAX	chr1:160854407-160854723	K562	blood:	n/a	n/a
30	CTCF	chr1:160854600-160854750	HCFaa	heart:	n/a	n/a
31	SMC3	chr1:160854431-160854809	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr1:160854463-160854740	GM12878	blood:	n/a	n/a
33	YY1	chr1:160854455-160854738	GM12878	blood:	n/a	n/a
34	CTCF	chr1:160854492-160854706	GM19238	blood:	n/a	n/a
35	CTCF	chr1:160854488-160854711	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr1:160854580-160854730	RPTEC	kidney:	n/a	n/a
37	CTCF	chr1:160854495-160854741	Kidney_OC	kidney:	n/a	n/a
38	RCOR1	chr1:160854493-160854751	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr1:160854580-160854730	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:160854535-160854723	K562	blood:	n/a	n/a
41	CTCF	chr1:160854527-160854706	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:160854523-160854704	Gliobla	brain:	n/a	n/a
43	CTCF	chr1:160854560-160854710	BE2_C	brain:	n/a	n/a
44	RAD21	chr1:160854522-160854712	GM12878	blood:	n/a	n/a
45	CTCF	chr1:160854449-160854730	GM19239	blood:	n/a	n/a
46	CTCF	chr1:160854580-160854730	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr1:160854490-160854745	K562	blood:	n/a	n/a
48	RAD21	chr1:160854511-160854738	GM12878	blood:	n/a	n/a
49	CTCF	chr1:160854560-160854710	HPF	lung:	n/a	n/a
50	CTCF	chr1:160854489-160854744	NHEK	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160850691..160852389-chr1:160852476..160855044,2	MCF-7	breast:

No data

Variant related genes	Relation type
ITLN1	TF binding region
ENSG00000179914	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10158850	0.85[JPT][hapmap]
rs11265518	1.00[EUR][1000 genomes]
rs12058717	0.86[AMR][1000 genomes]
rs12061248	0.85[JPT][hapmap]
rs12061252	0.85[JPT][hapmap]
rs12078336	0.85[JPT][hapmap]
rs12089284	0.86[AMR][1000 genomes]
rs12091185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412848	0.85[JPT][hapmap]
rs16832445	0.85[JPT][hapmap]
rs2280416	0.85[JPT][hapmap]
rs35779394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58170012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58615002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60429964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60721814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696695	0.85[JPT][hapmap]
rs7551159	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3430322	chr1:160851829-160920480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160849200-160855400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:160851000-160855400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:160852400-160855000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:160852800-160855000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:160853600-160858800	Weak transcription	Gastric	stomach
6	chr1:160854200-160855000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:160854600-160855400	Enhancers	Fetal Heart	heart

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