Variant report

Variant	rs16907490
Chromosome Location	chr8:87357178-87357179
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	SIN3AK20	chr8:87356100-87357559	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:87357124-87357261	MCF10A-Er-Src	breast:	n/a	n/a
3	HEY1	chr8:87356310-87357253	HepG2	liver:	n/a	n/a
4	HEY1	chr8:87356774-87357220	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:87356236-87357479	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:87356369-87357348	HepG2	liver:	n/a	n/a
7	GATA3	chr8:87353500-87357444	MCF-7	breast:	n/a	chr8:87355733-87355740 chr8:87356469-87356485 chr8:87355731-87355743 chr8:87354009-87354020 chr8:87355730-87355740
8	POLR2A	chr8:87356400-87357478	HepG2	liver:	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
ENSG00000164893	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10090107	1.00[EUR][1000 genomes]
rs10100368	0.82[LWK][hapmap]
rs10101280	0.89[EUR][1000 genomes]
rs10101337	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10101658	0.88[EUR][1000 genomes]
rs10106735	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10107469	0.88[EUR][1000 genomes]
rs1054738	0.87[EUR][1000 genomes]
rs16911667	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16912199	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16914543	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28446298	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504305	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28801137	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3916649	1.00[EUR][1000 genomes]
rs56280479	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60177164	1.00[EUR][1000 genomes]
rs61661701	1.00[EUR][1000 genomes]
rs7012745	0.88[EUR][1000 genomes]
rs73254743	1.00[EUR][1000 genomes]
rs73254771	0.88[EUR][1000 genomes]
rs73257062	0.88[EUR][1000 genomes]
rs73271003	1.00[EUR][1000 genomes]
rs73273124	0.88[EUR][1000 genomes]
rs73688826	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7461904	0.88[EUR][1000 genomes]
rs7464360	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[EUR][1000 genomes]
rs7812422	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839610	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841007	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841939	1.00[EUR][1000 genomes]
rs9656826	0.88[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	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

No data

Chromatin state (count:113 , 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	chr8:87354000-87357200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:87354000-87357400	Active TSS	Fetal Intestine Large	intestine
5	chr8:87354000-87357600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:87354000-87357600	Active TSS	Right Atrium	heart
7	chr8:87354000-87358200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:87354200-87357200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:87354200-87357200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr8:87354200-87357200	Active TSS	Fetal Stomach	stomach
11	chr8:87354200-87357200	Active TSS	Left Ventricle	heart
12	chr8:87354200-87357400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr8:87354200-87357400	Active TSS	Liver	Liver
14	chr8:87354200-87357400	Active TSS	Right Ventricle	heart
15	chr8:87354200-87357600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:87354200-87357600	Active TSS	Fetal Muscle Leg	muscle
17	chr8:87354400-87357200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr8:87354400-87357200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:87354400-87357200	Active TSS	Placenta	Placenta
20	chr8:87354400-87357400	Active TSS	Brain Anterior Caudate	brain
21	chr8:87354400-87357400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:87354400-87357600	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr8:87354600-87357200	Active TSS	Primary T cells fromperipheralblood	blood
24	chr8:87354600-87357400	Active TSS	Colonic Mucosa	Colon
25	chr8:87354600-87357600	Active TSS	HMEC	breast
26	chr8:87355200-87357200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr8:87355600-87357200	Weak transcription	Spleen	Spleen
28	chr8:87355600-87357400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:87355600-87357400	Active TSS	Brain Germinal Matrix	brain
30	chr8:87355800-87357200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:87355800-87357200	Weak transcription	Pancreas	Pancrea
32	chr8:87355800-87357600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr8:87355800-87358400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr8:87355800-87363600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:87355800-87363800	Weak transcription	Esophagus	oesophagus
36	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:87356000-87357200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:87356000-87357200	Enhancers	Brain Substantia Nigra	brain
39	chr8:87356000-87357200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:87356000-87357400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:87356000-87357400	Active TSS	HepG2	liver
42	chr8:87356000-87358000	Flanking Active TSS	Dnd41	blood
43	chr8:87356200-87357400	Flanking Active TSS	A549	lung
44	chr8:87356200-87357400	Flanking Active TSS	HUVEC	blood vessel
45	chr8:87356200-87357600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr8:87356200-87357800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr8:87356400-87357200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr8:87356400-87357200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:87356400-87357200	Flanking Active TSS	K562	blood
50	chr8:87356400-87357600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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