Variant report

Variant	rs35779394
Chromosome Location	chr1:160854620-160854621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr1:160854540-160854690	BE2_C	brain:	n/a	n/a
4	CTCF	chr1:160854520-160854670	HEEpiC	esophagus:	n/a	n/a
5	CTCF	chr1:160854560-160854710	NHEK	skin:	n/a	n/a
6	RAD21	chr1:160854486-160854755	HepG2	liver:	n/a	n/a
7	CTCF	chr1:160854560-160854710	GM12874	blood:	n/a	n/a
8	CTCF	chr1:160854540-160854690	GM12867	blood:	n/a	n/a
9	CTCF	chr1:160854507-160854736	GM12878	blood:	n/a	n/a
10	RAD21	chr1:160854453-160854714	HepG2	liver:	n/a	n/a
11	JUND	chr1:160854472-160854760	H1-hESC	embryonic stem cell:	n/a	chr1:160854599-160854610
12	CTCF	chr1:160854539-160854672	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:160854515-160854729	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr1:160854540-160854690	HCT-116	colon:	n/a	n/a
15	CTCF	chr1:160854520-160854670	GM12868	blood:	n/a	n/a
16	CTCF	chr1:160854560-160854710	HEK293	kidney:	n/a	n/a
17	CTCF	chr1:160854585-160854693	GM10266	blood:	n/a	n/a
18	RAD21	chr1:160854499-160854689	SK-N-SH_RA	brain:	n/a	n/a
19	ZNF143	chr1:160854435-160854788	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr1:160854540-160854690	HRE	kidney:	n/a	n/a
21	CTCF	chr1:160854520-160854670	GM12865	blood:	n/a	n/a
22	CTCF	chr1:160854600-160854750	GM12864	blood:	n/a	n/a
23	CTCF	chr1:160854409-160854798	HepG2	liver:	n/a	n/a
24	CTCF	chr1:160854580-160854730	GM12866	blood:	n/a	n/a
25	CTCF	chr1:160854540-160854690	SAEC	small airway:	n/a	n/a
26	RAD21	chr1:160854422-160854793	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr1:160854620-160854770	A549	lung:	n/a	n/a
28	MAX	chr1:160854479-160854677	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr1:160854583-160854676	GM13976	blood:	n/a	n/a
30	ELF1	chr1:160854264-160854673	GM12878	blood:	n/a	chr1:160854558-160854567 chr1:160854555-160854568 chr1:160854557-160854568 chr1:160854557-160854568
31	CTCF	chr1:160854540-160854690	GM12869	blood:	n/a	n/a
32	CTCF	chr1:160854480-160854630	HAc	cerebellar:	n/a	n/a
33	CTCF	chr1:160854436-160854844	K562	blood:	n/a	n/a
34	SMC3	chr1:160854529-160854763	K562	blood:	n/a	n/a
35	ELF1	chr1:160854384-160854691	HepG2	liver:	n/a	chr1:160854558-160854567 chr1:160854555-160854568 chr1:160854557-160854568 chr1:160854557-160854568
36	CTCF	chr1:160854560-160854710	GM06990	blood:	n/a	n/a
37	CTCF	chr1:160854510-160854749	K562	blood:	n/a	n/a
38	ELF1	chr1:160854316-160854751	K562	blood:	n/a	chr1:160854558-160854567 chr1:160854555-160854568 chr1:160854557-160854568 chr1:160854557-160854568
39	CTCF	chr1:160854560-160854710	GM12864	blood:	n/a	n/a
40	RAD21	chr1:160854460-160854784	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr1:160854564-160854680	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr1:160854560-160854710	GM12873	blood:	n/a	n/a
43	CTCF	chr1:160854580-160854730	GM12868	blood:	n/a	n/a
44	CTCF	chr1:160854580-160854730	K562	blood:	n/a	n/a
45	CTCF	chr1:160854540-160854690	GM12873	blood:	n/a	n/a
46	USF2	chr1:160854522-160854737	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr1:160854574-160854684	GM20000	blood:	n/a	n/a
48	MAX	chr1:160854407-160854723	K562	blood:	n/a	n/a
49	CTCF	chr1:160854600-160854750	HCFaa	heart:	n/a	n/a
50	SMC3	chr1:160854431-160854809	Hela-S3	cervix:	n/a	n/a

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

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11265518	1.00[EUR][1000 genomes]
rs12058717	0.86[AMR][1000 genomes]
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]
rs2297560	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]

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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