Variant report

Variant	rs12254776
Chromosome Location	chr10:118765869-118765870
allele	A/C
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	MAX	chr10:118763615-118765878	HCT-116	colon:	n/a	chr10:118765306-118765322 chr10:118765332-118765339

No.	Distal block	Cell Line	Cell type
1	chr10:118763331..118765453-chr10:118765627..118768169,2	MCF-7	breast:
2	chr10:118765114..118768175-chr10:118770999..118774519,3	K562	blood:
3	chr10:118718724..118721628-chr10:118764683..118766816,3	MCF-7	breast:

Variant related genes	Relation type
KIAA1598	TF binding region
ENSG00000187164	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11197849	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251703	1.00[AMR][1000 genomes]
rs12253831	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12265399	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3981230	0.85[AFR][1000 genomes]
rs6585421	1.00[AMR][1000 genomes]
rs7900137	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7904582	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755506	chr10:118748764-118800107	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv3525989	chr10:118764562-118770560	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
3	esv3525990	chr10:118765187-118770410	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
4	esv3525991	chr10:118765187-118770410	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118763400-118766200	Active TSS	A549	lung
2	chr10:118763600-118766200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:118765400-118766200	Weak transcription	NHDF-Ad	bronchial
4	chr10:118765400-118766800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:118765600-118766000	Weak transcription	HMEC	breast
6	chr10:118765600-118766000	Weak transcription	NHEK	skin
7	chr10:118765600-118766200	Enhancers	Brain Hippocampus Middle	brain
8	chr10:118765600-118766200	Enhancers	Fetal Brain Male	brain
9	chr10:118765600-118766200	Active TSS	Hela-S3	cervix
10	chr10:118765600-118766200	Active TSS	K562	blood
11	chr10:118765600-118766400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:118765600-118766400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:118765600-118766400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:118765600-118766400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:118765600-118766400	Enhancers	Liver	Liver
16	chr10:118765600-118766400	Enhancers	Brain Cingulate Gyrus	brain
17	chr10:118765600-118766400	Active TSS	Brain Germinal Matrix	brain
18	chr10:118765600-118766400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:118765600-118766400	Enhancers	NH-A	brain
20	chr10:118765600-118766600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:118765600-118766600	Weak transcription	Stomach Mucosa	stomach
22	chr10:118765600-118766800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:118765600-118766800	Enhancers	HUVEC	blood vessel
24	chr10:118765600-118767000	Enhancers	Brain Substantia Nigra	brain
25	chr10:118765600-118767200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr10:118765800-118766200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:118765800-118766400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr10:118765800-118766800	Enhancers	HepG2	liver

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