Variant report

Variant	rs9749668
Chromosome Location	chr2:110272827-110272828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110262467..110264874-chr2:110272739..110275186,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10210352	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10221803	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9679433	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9750315	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3332462	chr2:110268770-110273157	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110257800-110287800	Weak transcription	Gastric	stomach
2	chr2:110267800-110287600	Weak transcription	Right Atrium	heart
3	chr2:110270600-110273600	Weak transcription	Right Ventricle	heart
4	chr2:110270800-110273000	Enhancers	Esophagus	oesophagus
5	chr2:110271000-110273400	Enhancers	Colon Smooth Muscle	Colon
6	chr2:110271000-110273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:110271000-110275000	Weak transcription	Brain Germinal Matrix	brain
8	chr2:110271200-110273000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:110271200-110273200	Enhancers	Adipose Nuclei	Adipose
10	chr2:110271200-110273200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr2:110271200-110280400	Weak transcription	Fetal Kidney	kidney
12	chr2:110271200-110285400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:110271400-110273000	Enhancers	Fetal Stomach	stomach
14	chr2:110271400-110278800	Weak transcription	Lung	lung
15	chr2:110271600-110273200	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:110272200-110274000	Enhancers	GM12878-XiMat	blood
17	chr2:110272200-110274800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:110272400-110274200	Weak transcription	Placenta	Placenta
19	chr2:110272400-110274400	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:110272400-110274600	Weak transcription	Fetal Thymus	thymus
21	chr2:110272400-110274800	Weak transcription	NHEK	skin
22	chr2:110272400-110275000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:110272400-110276800	Weak transcription	HMEC	breast
24	chr2:110272600-110273800	Weak transcription	A549	lung
25	chr2:110272600-110274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:110272800-110273000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:110272800-110273200	Bivalent Enhancer	HepG2	liver
28	chr2:110272800-110273800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:110272800-110275000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:110272800-110283000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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