Variant report

Variant	rs17211441
Chromosome Location	chr8:64330999-64331000
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	STAT3	chr8:64330994-64331269	MCF10A-Er-Src	breast:	n/a	chr8:64331119-64331127
2	CTCF	chr8:64330742-64331546	SK-N-SH	brain:	n/a	chr8:64331145-64331154
3	CTCF	chr8:64330965-64331360	IMR90	lung:	n/a	chr8:64331145-64331154
4	CTCF	chr8:64330980-64331130	GM12801	blood:	n/a	n/a
5	CTCF	chr8:64330989-64331320	GM12878	blood:	n/a	chr8:64331145-64331154
6	JUN	chr8:64330990-64331462	H1-hESC	embryonic stem cell:	n/a	n/a
7	SMC3	chr8:64330737-64331509	SK-N-SH	brain:	n/a	chr8:64331144-64331151
8	CTCF	chr8:64330886-64331334	MCF-7	breast:	n/a	chr8:64331145-64331154
9	RAD21	chr8:64330969-64331308	SK-N-SH_RA	brain:	n/a	chr8:64331100-64331112
10	CTCF	chr8:64330804-64331417	A549	lung:	n/a	chr8:64331145-64331154
11	CTCF	chr8:64330957-64331233	A549	lung:	n/a	chr8:64331145-64331154
12	CTCF	chr8:64330980-64331130	GM12870	blood:	n/a	n/a
13	CTCF	chr8:64330913-64331407	MCF-7	breast:	n/a	chr8:64331145-64331154
14	CTCF	chr8:64330980-64331130	AG04450	lung:	n/a	n/a
15	CTCF	chr8:64330953-64331232	A549	lung:	n/a	chr8:64331145-64331154
16	CTCF	chr8:64330957-64331274	HepG2	liver:	n/a	chr8:64331145-64331154
17	RAD21	chr8:64330999-64331243	SK-N-SH_RA	brain:	n/a	chr8:64331100-64331112
18	CTCF	chr8:64330972-64331308	A549	lung:	n/a	chr8:64331145-64331154
19	RAD21	chr8:64330972-64331340	HepG2	liver:	n/a	chr8:64331100-64331112
20	RAD21	chr8:64330953-64331377	H1-hESC	embryonic stem cell:	n/a	chr8:64331100-64331112
21	CTCF	chr8:64330898-64331299	HCT-116	colon:	n/a	chr8:64331145-64331154
22	RAD21	chr8:64330992-64331297	HepG2	liver:	n/a	chr8:64331100-64331112
23	ZNF143	chr8:64330999-64331269	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr8:64330938-64331292	HCT-116	colon:	n/a	chr8:64331100-64331112
25	RAD21	chr8:64330917-64331270	MCF-7	breast:	n/a	chr8:64331100-64331112
26	CTCF	chr8:64330980-64331130	GM12866	blood:	n/a	n/a
27	RAD21	chr8:64330806-64331388	SK-N-SH	brain:	n/a	chr8:64331100-64331112
28	RAD21	chr8:64330960-64331335	H1-hESC	embryonic stem cell:	n/a	chr8:64331100-64331112
29	RAD21	chr8:64330911-64331305	A549	lung:	n/a	chr8:64331100-64331112

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64330687..64331445-chr8:65294375..65295300,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253205	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10957286	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1431593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17211077	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17282840	0.94[EUR][1000 genomes]
rs59223476	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61747580	1.00[EUR][1000 genomes]
rs73262736	0.94[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	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr8:64322000-64337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:64330000-64331200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:64330000-64333800	Enhancers	HSMMtube	muscle
4	chr8:64330200-64331000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:64330400-64331200	Enhancers	Psoas Muscle	Psoas
6	chr8:64330400-64331600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:64330600-64332600	Enhancers	HSMM	muscle
8	chr8:64330800-64331600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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