Variant report

Variant	rs55844041
Chromosome Location	chr2:31522854-31522855
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31517647..31520271-chr2:31522641..31525033,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12468456	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13394691	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420414	1.00[ASN][1000 genomes]
rs13422633	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011262	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55847034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56060668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60852132	1.00[ASN][1000 genomes]
rs62140757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786972	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31511200-31523200	Weak transcription	HMEC	breast
2	chr2:31517600-31523200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:31517800-31523200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:31517800-31523200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:31518800-31523400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:31518800-31523800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:31519800-31523200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:31520200-31525000	Weak transcription	Fetal Lung	lung
9	chr2:31520400-31525800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:31520600-31525000	Weak transcription	Esophagus	oesophagus
11	chr2:31520600-31525800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:31520600-31526000	Weak transcription	Lung	lung
13	chr2:31521000-31523000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:31521000-31523400	Weak transcription	NHEK	skin
15	chr2:31521000-31523800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:31521000-31526400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:31521000-31526400	Weak transcription	Right Ventricle	heart
18	chr2:31521000-31527200	Weak transcription	Aorta	Aorta
19	chr2:31521200-31523400	Weak transcription	NHLF	lung
20	chr2:31521200-31525000	Weak transcription	Left Ventricle	heart
21	chr2:31521400-31523200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:31521800-31523200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:31522200-31523000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:31522200-31523000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:31522200-31523400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:31522200-31523600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:31522400-31524000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:31522600-31523400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:31522600-31528600	Weak transcription	Fetal Intestine Small	intestine
30	chr2:31522800-31523000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:31522800-31527800	Enhancers	Fetal Heart	heart
32	chr2:31522800-31528200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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