Variant report

Variant	rs2003226
Chromosome Location	chr8:10182983-10182984
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	TCF7L2	chr8:10182953-10183206	MCF-7	breast:	n/a	chr8:10183061-10183075
2	MAFK	chr8:10182964-10183295	Hela-S3	cervix:	n/a	chr8:10183140-10183151 chr8:10183131-10183151 chr8:10183136-10183152 chr8:10183133-10183149 chr8:10183136-10183151 chr8:10183139-10183153 chr8:10183134-10183148 chr8:10183140-10183151
3	MAFK	chr8:10182970-10183310	IMR90	lung:	n/a	chr8:10183140-10183151 chr8:10183131-10183151 chr8:10183136-10183152 chr8:10183133-10183149 chr8:10183136-10183151 chr8:10183139-10183153 chr8:10183134-10183148 chr8:10183140-10183151
4	MAFK	chr8:10182827-10183306	HepG2	liver:	n/a	chr8:10183140-10183151 chr8:10183131-10183151 chr8:10183136-10183152 chr8:10183133-10183149 chr8:10183136-10183151 chr8:10183139-10183153 chr8:10183134-10183148 chr8:10183140-10183151
5	GATA3	chr8:10182877-10183398	MCF-7	breast:	n/a	chr8:10183168-10183184 chr8:10183172-10183181
6	MAFF	chr8:10182964-10183303	HepG2	liver:	n/a	chr8:10183134-10183148 chr8:10183135-10183153
7	MAFK	chr8:10182917-10183301	HepG2	liver:	n/a	chr8:10183140-10183151 chr8:10183131-10183151 chr8:10183136-10183152 chr8:10183133-10183149 chr8:10183136-10183151 chr8:10183139-10183153 chr8:10183134-10183148 chr8:10183140-10183151

Variant related genes	Relation type
MSRA	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10089244	0.82[CHB][hapmap]
rs10089263	0.86[CHB][hapmap]
rs10093246	0.86[CHB][hapmap]
rs10105033	0.93[ASN][1000 genomes]
rs10105815	0.80[JPT][hapmap];0.92[AMR][1000 genomes]
rs10903323	0.93[AMR][1000 genomes]
rs11249982	0.81[JPT][hapmap];0.92[AMR][1000 genomes]
rs11249983	0.92[AMR][1000 genomes]
rs11249986	0.91[CHB][hapmap];0.85[AMR][1000 genomes]
rs11249987	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11249988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs11249989	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11775021	0.93[ASN][1000 genomes]
rs11782868	0.90[CHB][hapmap]
rs11990063	0.86[CHB][hapmap]
rs12676847	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250850	0.97[ASN][1000 genomes]
rs13251198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17151700	0.81[CHB][hapmap];0.86[AMR][1000 genomes]
rs17151731	0.95[CHB][hapmap];0.90[AMR][1000 genomes]
rs17151759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2003225	0.94[ASN][1000 genomes]
rs34113732	0.93[ASN][1000 genomes]
rs35965591	0.99[ASN][1000 genomes]
rs36089236	0.93[AMR][1000 genomes]
rs4240641	0.81[CHB][hapmap]
rs4240642	0.93[AMR][1000 genomes]
rs4278158	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307347	0.86[CHB][hapmap];0.88[AMR][1000 genomes]
rs4329276	0.91[CHB][hapmap];0.83[AMR][1000 genomes]
rs4335130	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4403412	0.80[JPT][hapmap]
rs4419814	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4498602	0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.94[ASN][1000 genomes]
rs4509385	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.93[ASN][1000 genomes]
rs4546664	0.91[CHB][hapmap];0.86[AMR][1000 genomes]
rs4577961	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4840470	0.83[AMR][1000 genomes]
rs6601431	0.90[CHB][hapmap]
rs7006402	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7818111	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821327	0.80[JPT][hapmap];0.92[AMR][1000 genomes]
rs7825984	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9644722	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10168400-10188600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:10169000-10183200	Weak transcription	Brain Angular Gyrus	brain
3	chr8:10169000-10183600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:10175600-10183200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:10176600-10191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:10178600-10190400	Weak transcription	Primary B cells from cord blood	blood
7	chr8:10178800-10183200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:10179400-10183400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:10179400-10183600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:10179400-10188400	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:10179400-10189600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:10179400-10189800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:10179400-10190000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:10179400-10190000	Weak transcription	Brain Substantia Nigra	brain
15	chr8:10179400-10190400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:10179400-10190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:10179400-10191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:10179400-10191200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:10179400-10191200	Weak transcription	Pancreas	Pancrea
20	chr8:10179400-10192000	Weak transcription	Aorta	Aorta
21	chr8:10179600-10188000	Weak transcription	Fetal Brain Female	brain
22	chr8:10179600-10188400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:10179600-10190200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:10179800-10183200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:10179800-10183600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:10180200-10183400	Weak transcription	Brain Germinal Matrix	brain
27	chr8:10180200-10190200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:10180400-10183400	Weak transcription	Primary T cells from cord blood	blood
29	chr8:10182200-10183200	Enhancers	Liver	Liver
30	chr8:10182400-10183800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:10182600-10190600	Weak transcription	Spleen	Spleen
32	chr8:10182600-10192000	Weak transcription	Right Ventricle	heart
33	chr8:10182800-10186800	Weak transcription	Fetal Brain Male	brain

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