Variant report

Variant	rs12555858
Chromosome Location	chr9:100956808-100956809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:100956733-100957762	U87	brain:	n/a	n/a
2	POLR2A	chr9:100955842-100958371	K562	blood:	n/a	n/a
3	POLR2A	chr9:100956757-100957815	U87	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100954775..100957184-chr9:101014893..101018488,3	K562	blood:
2	chr9:100817834..100821135-chr9:100954026..100958556,6	MCF-7	breast:
3	chr9:100933577..100935693-chr9:100955515..100957092,2	MCF-7	breast:
4	chr9:100952914..100958060-chr9:101016344..101019894,9	MCF-7	breast:
5	chr9:100955094..100957753-chr9:101010315..101013161,2	MCF-7	breast:
6	chr9:100951866..100957184-chr9:101014234..101020511,10	K562	blood:
7	chr9:100932527..100936703-chr9:100952110..100957364,6	MCF-7	breast:
8	chr9:100955088..100957656-chr9:100968748..100970804,2	K562	blood:
9	chr9:100919441..100922231-chr9:100955358..100957777,2	MCF-7	breast:
10	chr9:100880288..100886270-chr9:100953608..100957100,8	MCF-7	breast:
11	chr9:100877974..100882322-chr9:100953652..100957621,5	K562	blood:

No data

Variant related genes	Relation type
CORO2A	TF binding region
ENSG00000095383	Chromatin interaction
ENSG00000106785	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000106789	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10818590	0.99[ASN][1000 genomes]
rs10985365	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10985369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10985370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10985384	0.95[ASN][1000 genomes]
rs10985385	0.93[ASN][1000 genomes]
rs12344700	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824454	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575630	0.99[ASN][1000 genomes]
rs7029397	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029784	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7034547	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7034562	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-100957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:100955800-100958400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:100955800-100960200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:100955800-100960400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:100955800-100960600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:100955800-100960600	Weak transcription	Gastric	stomach
7	chr9:100955800-100960800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:100955800-100961000	Weak transcription	HSMMtube	muscle
9	chr9:100955800-100961400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:100955800-100961400	Weak transcription	Brain Substantia Nigra	brain
11	chr9:100955800-100961400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr9:100955800-100961400	Weak transcription	Thymus	Thymus
13	chr9:100955800-100961600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:100955800-100961600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:100955800-100962000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:100955800-100962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:100955800-100962000	Weak transcription	HSMM	muscle
18	chr9:100955800-100964200	Weak transcription	Pancreas	Pancrea
19	chr9:100955800-100965200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:100955800-100965200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:100955800-100970400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr9:100955800-100970400	Weak transcription	Left Ventricle	heart
23	chr9:100955800-100970400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:100955800-100970600	Weak transcription	Ovary	ovary
25	chr9:100955800-100970600	Weak transcription	Right Ventricle	heart
26	chr9:100955800-100975000	Weak transcription	Primary B cells from cord blood	blood
27	chr9:100955800-100975000	Weak transcription	NHDF-Ad	bronchial
28	chr9:100955800-100975200	Weak transcription	NH-A	brain
29	chr9:100955800-100975600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:100956000-100958000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:100956000-100958200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:100956000-100958600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:100956000-100959200	Weak transcription	HMEC	breast
35	chr9:100956000-100959600	Weak transcription	Osteobl	bone
36	chr9:100956000-100959800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr9:100956000-100960000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:100956000-100960200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:100956000-100960400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:100956000-100960600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:100956000-100960600	Weak transcription	Colonic Mucosa	Colon
42	chr9:100956000-100961000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr9:100956000-100961200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:100956000-100961400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr9:100956000-100961400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr9:100956000-100961400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:100956000-100961600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr9:100956000-100961600	Weak transcription	NHLF	lung
49	chr9:100956000-100962000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:100956000-100965000	Weak transcription	Adipose Nuclei	Adipose

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