Variant report

Variant	rs73297124
Chromosome Location	chr8:105602731-105602732
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	NFYA	chr8:105602609-105603076	K562	blood:	n/a	chr8:105602875-105602893 chr8:105602851-105602869
2	RCOR1	chr8:105602496-105602967	K562	blood:	n/a	n/a
3	TBP	chr8:105602718-105602854	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:105602471-105602873	K562	blood:	n/a	n/a
5	TBP	chr8:105602621-105602836	H1-hESC	embryonic stem cell:	n/a	n/a
6	HA-E2F1	chr8:105601224-105602827	MCF-7	breast:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502
7	NFYB	chr8:105602624-105603041	K562	blood:	n/a	n/a
8	HEY1	chr8:105602499-105602837	K562	blood:	n/a	n/a
9	SP1	chr8:105602647-105603004	H1-hESC	embryonic stem cell:	n/a	chr8:105602776-105602787
10	SETDB1	chr8:105602670-105602997	U2OS	brain:	n/a	n/a
11	ZNF263	chr8:105600850-105602812	HEK293-T-REx	kidney:	n/a	chr8:105601304-105601313 chr8:105601311-105601320
12	POLR2A	chr8:105596596-105602930	K562	blood:	n/a	n/a
13	POLR2A	chr8:105600954-105602849	K562	blood:	n/a	n/a
14	POLR2A	chr8:105602540-105602842	K562	blood:	n/a	n/a
15	NFYA	chr8:105602646-105603028	GM12878	blood:	n/a	chr8:105602875-105602893 chr8:105602851-105602869
16	POLR2A	chr8:105602511-105602810	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:105600315-105602882	K562	blood:	n/a	n/a
18	RCOR1	chr8:105602595-105602832	K562	blood:	n/a	n/a
19	CBX3	chr8:105601843-105603096	K562	blood:	n/a	n/a
20	IRF1	chr8:105602725-105602918	K562	blood:	n/a	n/a
21	SP1	chr8:105602633-105602967	GM12878	blood:	n/a	chr8:105602776-105602787
22	POLR2A	chr8:105602489-105602880	K562	blood:	n/a	n/a
23	SP1	chr8:105602545-105602995	H1-hESC	embryonic stem cell:	n/a	chr8:105602776-105602787
24	POLR2A	chr8:105600122-105602817	K562	blood:	n/a	n/a
25	TBP	chr8:105602607-105602851	K562	blood:	n/a	n/a
26	NFYB	chr8:105602640-105603281	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105599361..105601982-chr8:105602248..105604776,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253350	TF binding region
LRP12	TF binding region
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10505059	1.00[EUR][1000 genomes]
rs10505061	1.00[EUR][1000 genomes]
rs11986052	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1347780	1.00[EUR][1000 genomes]
rs16871487	1.00[EUR][1000 genomes]
rs16871494	1.00[EUR][1000 genomes]
rs16871501	1.00[EUR][1000 genomes]
rs16871528	1.00[EUR][1000 genomes]
rs16871529	1.00[EUR][1000 genomes]
rs16871532	1.00[EUR][1000 genomes]
rs16871542	1.00[EUR][1000 genomes]
rs16871547	1.00[EUR][1000 genomes]
rs16871570	1.00[EUR][1000 genomes]
rs16871573	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871574	1.00[EUR][1000 genomes]
rs16871583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871604	1.00[EUR][1000 genomes]
rs16871610	1.00[EUR][1000 genomes]
rs16871627	1.00[EUR][1000 genomes]
rs16871629	1.00[EUR][1000 genomes]
rs16871659	1.00[EUR][1000 genomes]
rs4478539	1.00[EUR][1000 genomes]
rs4492340	1.00[EUR][1000 genomes]
rs58610142	1.00[EUR][1000 genomes]
rs59552566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59666618	1.00[EUR][1000 genomes]
rs6468931	1.00[EUR][1000 genomes]
rs6468936	1.00[EUR][1000 genomes]
rs6468937	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6468938	1.00[EUR][1000 genomes]
rs6468942	1.00[EUR][1000 genomes]
rs6981436	1.00[EUR][1000 genomes]
rs6981448	1.00[EUR][1000 genomes]
rs6982444	1.00[EUR][1000 genomes]
rs6982693	1.00[EUR][1000 genomes]
rs6984085	1.00[EUR][1000 genomes]
rs6984951	1.00[EUR][1000 genomes]
rs6985345	1.00[EUR][1000 genomes]
rs6986854	1.00[EUR][1000 genomes]
rs6988703	1.00[EUR][1000 genomes]
rs6988869	1.00[EUR][1000 genomes]
rs6992140	1.00[EUR][1000 genomes]
rs6997991	1.00[EUR][1000 genomes]
rs6998138	1.00[EUR][1000 genomes]
rs7000469	1.00[EUR][1000 genomes]
rs7005906	1.00[EUR][1000 genomes]
rs7009946	1.00[EUR][1000 genomes]
rs7010175	1.00[EUR][1000 genomes]
rs7016642	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73295119	0.83[AMR][1000 genomes]
rs73295137	0.83[AMR][1000 genomes]
rs73299103	1.00[EUR][1000 genomes]
rs73299117	1.00[EUR][1000 genomes]
rs73299119	1.00[EUR][1000 genomes]
rs73299120	1.00[EUR][1000 genomes]
rs73299126	1.00[EUR][1000 genomes]
rs7813227	1.00[EUR][1000 genomes]
rs7813553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813838	1.00[EUR][1000 genomes]
rs7814211	1.00[EUR][1000 genomes]
rs7814284	1.00[EUR][1000 genomes]
rs7815131	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815196	1.00[EUR][1000 genomes]
rs7817448	1.00[EUR][1000 genomes]
rs7819974	1.00[EUR][1000 genomes]
rs7820450	1.00[EUR][1000 genomes]
rs7820552	1.00[EUR][1000 genomes]
rs7821042	1.00[EUR][1000 genomes]
rs7824866	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7829983	1.00[EUR][1000 genomes]
rs7832076	1.00[EUR][1000 genomes]
rs7832455	1.00[EUR][1000 genomes]
rs7833483	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7835029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836110	1.00[EUR][1000 genomes]
rs7837072	1.00[EUR][1000 genomes]
rs7837076	1.00[EUR][1000 genomes]
rs7838122	1.00[EUR][1000 genomes]
rs7839019	1.00[EUR][1000 genomes]
rs7841549	1.00[EUR][1000 genomes]
rs7842135	1.00[EUR][1000 genomes]
rs9694695	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3369954	chr8:105600126-105602924	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105600000-105602800	Active TSS	Thymus	Thymus
2	chr8:105601800-105602800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:105601800-105602800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:105602000-105602800	Flanking Active TSS	Dnd41	blood
5	chr8:105602000-105603000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
6	chr8:105602000-105605600	Weak transcription	Small Intestine	intestine
7	chr8:105602200-105602800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:105602400-105602800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:105602400-105602800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:105602400-105602800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:105602400-105602800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:105602400-105606000	Weak transcription	HUVEC	blood vessel
13	chr8:105602400-105607600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:105602600-105602800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:105602600-105602800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr8:105602600-105602800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:105602600-105602800	Active TSS	Primary T cells from cord blood	blood
18	chr8:105602600-105602800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:105602600-105602800	Enhancers	Brain Anterior Caudate	brain
20	chr8:105602600-105602800	Active TSS	Brain Hippocampus Middle	brain
21	chr8:105602600-105602800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr8:105602600-105603000	Enhancers	Fetal Thymus	thymus
23	chr8:105602600-105603600	Enhancers	K562	blood

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