Variant report

Variant	rs10103691
Chromosome Location	chr8:87356912-87356913
allele	C/T
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	SIN3AK20	chr8:87356100-87357559	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:87356806-87356951	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:87356176-87356921	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr8:87356185-87357041	HepG2	liver:	n/a	n/a
5	GATA3	chr8:87356428-87356936	A549	lung:	n/a	chr8:87356469-87356485
6	GATA3	chr8:87356303-87357050	T-47D	breast:	n/a	chr8:87356469-87356485
7	GATA3	chr8:87356253-87356983	A549	lung:	n/a	chr8:87356469-87356485
8	TCF7L2	chr8:87355747-87356982	HEK293	kidney:	n/a	chr8:87356844-87356853 chr8:87355762-87355771 chr8:87355759-87355773 chr8:87356599-87356613
9	TCF7L2	chr8:87356306-87356983	MCF-7	breast:	n/a	chr8:87356844-87356853 chr8:87356599-87356613
10	MYBL2	chr8:87356334-87357045	HepG2	liver:	n/a	n/a
11	HEY1	chr8:87356310-87357253	HepG2	liver:	n/a	n/a
12	HEY1	chr8:87356774-87357220	HepG2	liver:	n/a	n/a
13	TCF7L2	chr8:87356405-87356925	Hela-S3	cervix:	n/a	chr8:87356844-87356853 chr8:87356599-87356613
14	POLR2A	chr8:87356236-87357479	HepG2	liver:	n/a	n/a
15	USF2	chr8:87356865-87357004	Hela-S3	cervix:	n/a	n/a
16	ARID3A	chr8:87356369-87357348	HepG2	liver:	n/a	n/a
17	TCF12	chr8:87356368-87356922	A549	lung:	n/a	n/a
18	TEAD4	chr8:87356350-87356925	HepG2	liver:	n/a	n/a
19	ELF1	chr8:87356402-87356987	MCF-7	breast:	n/a	n/a
20	GATA3	chr8:87356175-87357140	MCF-7	breast:	n/a	chr8:87356469-87356485
21	POLR2A	chr8:87356562-87356958	MCF-7	breast:	n/a	n/a
22	GATA3	chr8:87353500-87357444	MCF-7	breast:	n/a	chr8:87355733-87355740 chr8:87356469-87356485 chr8:87355731-87355743 chr8:87354009-87354020 chr8:87355730-87355740
23	POLR2A	chr8:87356400-87357478	HepG2	liver:	n/a	n/a
24	JUND	chr8:87356363-87356917	T-47D	breast:	n/a	chr8:87356425-87356437
25	TBP	chr8:87356387-87357024	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:
2	chr8:87127285..87128795-chr8:87356726..87359670,2	MCF-7	breast:
3	chr8:87353718..87358209-chr8:87386085..87389077,4	MCF-7	breast:
4	chr8:87355027..87357482-chr8:87519258..87521837,2	K562	blood:

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

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10088739	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10089781	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10093238	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10093379	0.82[EUR][1000 genomes]
rs10095129	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10095498	0.84[JPT][hapmap]
rs10095537	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10096168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10096443	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10097450	0.80[JPT][hapmap]
rs10107072	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956802	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10956803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956853	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1142528	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11775728	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11781016	0.94[JPT][hapmap]
rs11782512	0.83[EUR][1000 genomes]
rs11787036	0.88[ASN][1000 genomes]
rs11787318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11997234	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12543856	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12543887	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12544731	0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12546802	0.80[JPT][hapmap]
rs12550142	0.80[JPT][hapmap]
rs12679811	0.80[JPT][hapmap]
rs13042	0.84[JPT][hapmap]
rs13249753	0.84[JPT][hapmap]
rs13251647	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13269259	0.80[JPT][hapmap]
rs13281414	0.80[JPT][hapmap]
rs17608598	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17608967	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17681618	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2953517	0.80[JPT][hapmap]
rs3213911	0.83[JPT][hapmap]
rs34895735	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3883910	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4285463	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4484676	0.89[JPT][hapmap]
rs4581032	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4587306	0.84[JPT][hapmap]
rs4961187	0.94[ASN][1000 genomes]
rs4961188	0.80[JPT][hapmap]
rs4961189	0.84[ASN][1000 genomes]
rs4961190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4961193	0.84[JPT][hapmap]
rs4961194	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4961196	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs5024450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5025329	0.89[JPT][hapmap]
rs55727343	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55807259	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56039487	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56096624	0.85[ASN][1000 genomes]
rs56102132	0.84[EUR][1000 genomes]
rs56122638	0.89[ASN][1000 genomes]
rs56268675	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56395805	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57326273	0.88[EUR][1000 genomes]
rs57644875	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62509414	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62509419	0.92[ASN][1000 genomes]
rs62509421	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62510798	0.84[EUR][1000 genomes]
rs6415565	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6471273	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6471279	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6471281	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471296	0.84[JPT][hapmap]
rs6471309	0.84[JPT][hapmap]
rs6471345	0.82[EUR][1000 genomes]
rs6471352	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6471354	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6471360	0.84[JPT][hapmap]
rs6983925	0.84[JPT][hapmap]
rs6988601	0.81[EUR][1000 genomes]
rs6994005	0.87[JPT][hapmap]
rs6996052	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6999654	0.88[JPT][hapmap]
rs7003059	0.84[JPT][hapmap]
rs7006017	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7006629	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7015490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017716	0.84[JPT][hapmap]
rs7017719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71503461	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7459811	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7459897	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7460028	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7460251	0.82[JPT][hapmap]
rs7460286	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7460439	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7461413	0.80[JPT][hapmap]
rs7461624	0.89[JPT][hapmap]
rs7461767	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7462727	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7465350	0.88[JPT][hapmap]
rs7465511	0.84[JPT][hapmap]
rs7819454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820234	0.80[JPT][hapmap]
rs7820697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7823154	0.94[JPT][hapmap]
rs7824469	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825405	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7830128	0.92[ASN][1000 genomes]
rs7832493	0.80[JPT][hapmap]
rs7835743	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7837569	0.84[JPT][hapmap]
rs7838007	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7839601	0.80[JPT][hapmap]
rs7846090	0.80[JPT][hapmap]
rs9283961	0.90[ASN][1000 genomes]
rs9642913	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9942792	0.80[JPT][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10103691	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr8:87353800-87357400	Active TSS	Stomach Smooth Muscle	stomach
3	chr8:87354000-87357000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:87354000-87357000	Active TSS	GM12878-XiMat	blood
5	chr8:87354000-87357000	Active TSS	NHLF	lung
6	chr8:87354000-87357200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:87354000-87357400	Active TSS	Fetal Intestine Large	intestine
8	chr8:87354000-87357600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:87354000-87357600	Active TSS	Right Atrium	heart
10	chr8:87354000-87358200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:87354200-87357000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:87354200-87357000	Active TSS	NH-A	brain
13	chr8:87354200-87357200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:87354200-87357200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:87354200-87357200	Active TSS	Fetal Stomach	stomach
16	chr8:87354200-87357200	Active TSS	Left Ventricle	heart
17	chr8:87354200-87357400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:87354200-87357400	Active TSS	Liver	Liver
19	chr8:87354200-87357400	Active TSS	Right Ventricle	heart
20	chr8:87354200-87357600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:87354200-87357600	Active TSS	Fetal Muscle Leg	muscle
22	chr8:87354400-87357000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:87354400-87357000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:87354400-87357000	Active TSS	Fetal Thymus	thymus
25	chr8:87354400-87357000	Active TSS	Psoas Muscle	Psoas
26	chr8:87354400-87357000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr8:87354400-87357000	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr8:87354400-87357000	Active TSS	Hela-S3	cervix
29	chr8:87354400-87357200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr8:87354400-87357200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:87354400-87357200	Active TSS	Placenta	Placenta
32	chr8:87354400-87357400	Active TSS	Brain Anterior Caudate	brain
33	chr8:87354400-87357400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:87354400-87357600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr8:87354600-87357000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:87354600-87357200	Active TSS	Primary T cells fromperipheralblood	blood
37	chr8:87354600-87357400	Active TSS	Colonic Mucosa	Colon
38	chr8:87354600-87357600	Active TSS	HMEC	breast
39	chr8:87355000-87357000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:87355200-87357200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr8:87355600-87357000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:87355600-87357200	Weak transcription	Spleen	Spleen
43	chr8:87355600-87357400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:87355600-87357400	Active TSS	Brain Germinal Matrix	brain
45	chr8:87355800-87357000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:87355800-87357000	Weak transcription	Gastric	stomach
47	chr8:87355800-87357200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:87355800-87357200	Weak transcription	Pancreas	Pancrea
49	chr8:87355800-87357600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr8:87355800-87358400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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