Variant report

Variant	rs7846468
Chromosome Location	chr8:87356024-87356025
allele	A/C
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	NR2F2	chr8:87353677-87356047	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr8:87355747-87356982	HEK293	kidney:	n/a	chr8:87356844-87356853 chr8:87355762-87355771 chr8:87355759-87355773 chr8:87356599-87356613
3	SIN3A	chr8:87354443-87356104	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr8:87354301-87356057	IMR90	lung:	n/a	n/a
5	CHD1	chr8:87355238-87356145	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:87354307-87356420	MCF10A-Er-Src	breast:	n/a	n/a
7	IRF1	chr8:87355852-87356163	K562	blood:	n/a	n/a
8	JUN	chr8:87355689-87356032	K562	blood:	n/a	n/a
9	GATA3	chr8:87353500-87357444	MCF-7	breast:	n/a	chr8:87355733-87355740 chr8:87356469-87356485 chr8:87355731-87355743 chr8:87354009-87354020 chr8:87355730-87355740
10	NR2F2	chr8:87355231-87356050	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:
2	chr8:87353718..87358209-chr8:87386085..87389077,4	MCF-7	breast:
3	chr8:87165113..87167523-chr8:87354412..87356761,2	MCF-7	breast:
4	chr8:87355027..87357482-chr8:87519258..87521837,2	K562	blood:

Variant related genes	Relation type
ENSG00000254231	TF binding region
ENSG00000164893	Chromatin interaction
ENSG00000123124	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000253675	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10089317	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10093867	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10097546	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100698	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10106855	0.97[ASN][1000 genomes]
rs10109032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10113158	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504823	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956820	0.84[ASN][1000 genomes]
rs10956822	0.84[ASN][1000 genomes]
rs11781993	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12156004	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12216783	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12335013	0.90[ASN][1000 genomes]
rs13265266	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17681534	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28384362	0.84[ASN][1000 genomes]
rs28433311	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28445847	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504479	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28715255	0.90[ASN][1000 genomes]
rs28783474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917553	0.97[ASN][1000 genomes]
rs2953507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953508	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953512	0.97[ASN][1000 genomes]
rs2953514	0.97[ASN][1000 genomes]
rs2953515	0.97[ASN][1000 genomes]
rs2953518	0.97[ASN][1000 genomes]
rs2953519	0.97[ASN][1000 genomes]
rs2953525	0.83[EUR][1000 genomes]
rs2976170	0.97[ASN][1000 genomes]
rs2976173	0.97[ASN][1000 genomes]
rs2976174	0.97[ASN][1000 genomes]
rs2976175	0.97[ASN][1000 genomes]
rs2976176	0.97[ASN][1000 genomes]
rs2976180	0.97[ASN][1000 genomes]
rs2976192	0.87[ASN][1000 genomes]
rs2976194	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2976195	0.90[ASN][1000 genomes]
rs2976196	0.90[ASN][1000 genomes]
rs2976199	0.90[ASN][1000 genomes]
rs2976202	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4370511	0.97[ASN][1000 genomes]
rs55671538	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55871514	0.90[ASN][1000 genomes]
rs6471284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471295	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471317	0.90[ASN][1000 genomes]
rs6993497	0.84[ASN][1000 genomes]
rs6993612	0.90[ASN][1000 genomes]
rs7015772	0.90[ASN][1000 genomes]
rs73262925	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262927	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688817	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73688823	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73688824	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73688827	0.90[ASN][1000 genomes]
rs7815489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837581	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7837618	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7839096	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7843272	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7843399	0.84[ASN][1000 genomes]
rs9656823	0.97[ASN][1000 genomes]
rs9656824	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3441725	chr8:87342885-87359895	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3358016	chr8:87353861-87356409	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3353126	chr8:87353861-87356559	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87353600-87357400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:87353800-87356800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:87353800-87357400	Active TSS	Stomach Smooth Muscle	stomach
4	chr8:87354000-87356200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:87354000-87356200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:87354000-87356200	Active TSS	Fetal Intestine Small	intestine
7	chr8:87354000-87356200	Active TSS	A549	lung
8	chr8:87354000-87356400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:87354000-87356400	Active TSS	HSMMtube	muscle
10	chr8:87354000-87356600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:87354000-87356600	Active TSS	Muscle Satellite Cultured Cells	--
12	chr8:87354000-87356600	Active TSS	HSMM	muscle
13	chr8:87354000-87356800	Active TSS	Colon Smooth Muscle	Colon
14	chr8:87354000-87356800	Active TSS	Fetal Brain Male	brain
15	chr8:87354000-87356800	Active TSS	Ovary	ovary
16	chr8:87354000-87357000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:87354000-87357000	Active TSS	GM12878-XiMat	blood
18	chr8:87354000-87357000	Active TSS	NHLF	lung
19	chr8:87354000-87357200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:87354000-87357400	Active TSS	Fetal Intestine Large	intestine
21	chr8:87354000-87357600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:87354000-87357600	Active TSS	Right Atrium	heart
23	chr8:87354000-87358200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:87354200-87356200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:87354200-87356600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr8:87354200-87356600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:87354200-87356600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:87354200-87356800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr8:87354200-87356800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:87354200-87356800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:87354200-87356800	Active TSS	Aorta	Aorta
32	chr8:87354200-87356800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr8:87354200-87356800	Active TSS	Fetal Lung	lung
34	chr8:87354200-87356800	Active TSS	Thymus	Thymus
35	chr8:87354200-87357000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:87354200-87357000	Active TSS	NH-A	brain
37	chr8:87354200-87357200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:87354200-87357200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr8:87354200-87357200	Active TSS	Fetal Stomach	stomach
40	chr8:87354200-87357200	Active TSS	Left Ventricle	heart
41	chr8:87354200-87357400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr8:87354200-87357400	Active TSS	Liver	Liver
43	chr8:87354200-87357400	Active TSS	Right Ventricle	heart
44	chr8:87354200-87357600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr8:87354200-87357600	Active TSS	Fetal Muscle Leg	muscle
46	chr8:87354400-87356200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:87354400-87356200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:87354400-87356200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:87354400-87356200	Active TSS	Fetal Kidney	kidney
50	chr8:87354400-87356400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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