Variant report

Variant	rs12356581
Chromosome Location	chr10:99260054-99260055
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	POLR2A	chr10:99257185-99260373	HUVEC	blood vessel:	n/a	n/a
2	SPI1	chr10:99259477-99260074	HL-60	blood:	n/a	n/a
3	CEBPB	chr10:99259820-99260101	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr10:99259866-99260251	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr10:99259853-99260225	HUVEC	blood vessel:	n/a	n/a
6	CEBPB	chr10:99259681-99260096	HepG2	liver:	n/a	n/a
7	CEBPB	chr10:99259617-99260168	IMR90	lung:	n/a	n/a
8	CEBPB	chr10:99259925-99260097	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr10:99259888-99260064	HepG2	liver:	n/a	n/a
10	RCOR1	chr10:99259939-99260103	HepG2	liver:	n/a	n/a
11	MXI1	chr10:99257094-99260380	IMR90	lung:	n/a	n/a
12	MYC	chr10:99257355-99260136	NB4	blood:	n/a	chr10:99258254-99258265 chr10:99258920-99258930 chr10:99258255-99258264 chr10:99259189-99259199 chr10:99258671-99258681 chr10:99259326-99259336

No.	Distal block	Cell Line	Cell type
1	chr10:99159358..99162440-chr10:99256931..99260180,3	MCF-7	breast:
2	chr10:99205621..99207743-chr10:99257584..99260294,2	MCF-7	breast:
3	chr10:99258633..99260480-chr10:99272393..99275026,3	MCF-7	breast:
4	chr10:99256533..99260506-chr10:99329939..99335950,10	MCF-7	breast:
5	chr10:99158733..99161055-chr10:99257726..99260280,2	MCF-7	breast:
6	chr10:99254835..99256478-chr10:99258857..99262357,3	MCF-7	breast:
7	chr10:99259143..99261299-chr10:99264874..99266683,2	K562	blood:

Variant related genes	Relation type
MMS19	TF binding region
ENSG00000171311	Chromatin interaction
ENSG00000165887	Chromatin interaction
ENSG00000231970	Chromatin interaction
ENSG00000052749	Chromatin interaction
ENSG00000171307	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11189230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11189236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189254	0.87[EUR][1000 genomes]
rs12357653	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12360068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3440915	chr10:99257587-99260135	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99257000-99260400	Active TSS	Brain Angular Gyrus	brain
2	chr10:99257000-99260400	Active TSS	HSMM	muscle
3	chr10:99258800-99260200	Bivalent/Poised TSS	Thymus	Thymus
4	chr10:99258800-99260400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr10:99259400-99260200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:99259400-99260200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
7	chr10:99259400-99260600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:99259600-99260200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:99259600-99260200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:99259600-99260200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr10:99259600-99260200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr10:99259600-99260200	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr10:99259600-99260200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:99259600-99260200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
15	chr10:99259600-99260200	Flanking Active TSS	NHEK	skin
16	chr10:99259600-99260400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr10:99259600-99260400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:99259600-99260400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr10:99259600-99260400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
20	chr10:99259600-99260400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:99259600-99260600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:99259600-99261000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr10:99259600-99261000	Enhancers	Spleen	Spleen
24	chr10:99259800-99260200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:99259800-99260200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:99259800-99260200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr10:99259800-99260200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:99259800-99260200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr10:99259800-99260200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:99259800-99260200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr10:99259800-99260200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr10:99259800-99260200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr10:99259800-99260200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:99259800-99260200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:99259800-99260200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr10:99259800-99260200	Flanking Active TSS	Fetal Kidney	kidney
37	chr10:99259800-99260200	Flanking Active TSS	Fetal Lung	lung
38	chr10:99259800-99260200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr10:99259800-99260200	Flanking Active TSS	Left Ventricle	heart
40	chr10:99259800-99260200	Flanking Active TSS	Pancreas	Pancrea
41	chr10:99259800-99260200	Flanking Active TSS	Psoas Muscle	Psoas
42	chr10:99259800-99260200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
43	chr10:99259800-99260200	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr10:99259800-99260200	Flanking Active TSS	Right Ventricle	heart
45	chr10:99259800-99260200	Bivalent Enhancer	Stomach Mucosa	stomach
46	chr10:99259800-99260200	Flanking Active TSS	A549	lung
47	chr10:99259800-99260200	Flanking Active TSS	HepG2	liver
48	chr10:99259800-99260200	Flanking Active TSS	NH-A	brain
49	chr10:99259800-99260200	Flanking Active TSS	NHDF-Ad	bronchial
50	chr10:99259800-99260400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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