Variant report

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:165561950-165562866	A549	lung:	n/a	chr1:165562355-165562376
2	RAD21	chr1:165561915-165562831	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr1:165562660-165562810	BE2_C	brain:	n/a	n/a
4	CTCF	chr1:165562640-165562790	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr1:165562700-165562850	GM12864	blood:	n/a	n/a
6	CTCF	chr1:165562700-165562850	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr1:165562600-165562750	Caco-2	colon:	n/a	n/a
8	MEF2A	chr1:165562567-165562986	GM12878	blood:	n/a	n/a
9	SMC3	chr1:165562159-165562889	GM12878	blood:	n/a	n/a
10	RAD21	chr1:165561995-165562718	HCT-116	colon:	n/a	n/a
11	CTCF	chr1:165562580-165562730	NHEK	skin:	n/a	n/a
12	CTCF	chr1:165561998-165562814	HCT-116	colon:	n/a	chr1:165562355-165562376
13	CTCF	chr1:165561803-165562835	SK-N-SH	brain:	n/a	chr1:165562355-165562376
14	CTCF	chr1:165562152-165562703	GM12878	blood:	n/a	chr1:165562355-165562376
15	CTCF	chr1:165562586-165562703	GM13977	blood:	n/a	n/a
16	CTCF	chr1:165562640-165562790	AG10803	skin:	n/a	n/a
17	SMC3	chr1:165561709-165562815	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr1:165562660-165562810	SAEC	small airway:	n/a	n/a
19	CTCF	chr1:165562600-165562750	AoAF	blood vessel:	n/a	n/a
20	RAD21	chr1:165561984-165562803	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:165226625..165228087-chr1:165561750..165562805,5	K562	blood:
2	chr1:165361774..165362688-chr1:165561662..165562980,6	MCF-7	breast:
3	chr1:165377455..165378027-chr1:165561880..165562910,7	MCF-7	breast:
4	chr1:165083624..165084216-chr1:165561962..165562804,2	K562	blood:
5	chr1:165372897..165374942-chr1:165561137..165563189,2	MCF-7	breast:
6	chr1:165361798..165362919-chr1:165561812..165563315,19	K562	blood:
7	chr1:165372861..165373913-chr1:165561845..165562894,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236206	TF binding region

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1011469	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12119602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125420	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12128974	0.83[EUR][1000 genomes]
rs12130157	0.85[EUR][1000 genomes]
rs12131992	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142477	0.82[EUR][1000 genomes]
rs16847073	0.83[AMR][1000 genomes]
rs16847331	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913836	0.81[EUR][1000 genomes]
rs2152818	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs34201742	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs41267552	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs41267554	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4147146	0.80[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890197	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7554080	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429902	chr1:165531342-165574342	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165547400-165566800	Weak transcription	Psoas Muscle	Psoas
2	chr1:165562000-165562800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr1:165562200-165562800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:165562400-165562800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:165562400-165562800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:165562400-165562800	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:165562600-165562800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:165562600-165562800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

Quick Search: