Variant report

Variant	rs2273710
Chromosome Location	chr1:241751892-241751893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241740414..241742828-chr1:241751126..241752757,2	MCF-7	breast:
2	chr1:241725006..241727836-chr1:241750536..241753044,2	MCF-7	breast:
3	chr1:241702260..241709454-chr1:241751164..241757390,11	MCF-7	breast:
4	chr1:241692675..241699772-chr1:241751334..241757827,9	MCF-7	breast:
5	chr1:241750197..241751935-chr1:241752579..241755133,2	MCF-7	breast:
6	chr1:241750730..241752362-chr1:241752799..241755377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117009	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11586782	1.00[AFR][1000 genomes]
rs11587755	1.00[AFR][1000 genomes]
rs11590381	1.00[AFR][1000 genomes]
rs12562746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16841866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41269375	1.00[AFR][1000 genomes]
rs45614438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56176170	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv427963	chr1:241718799-241832833	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241740200-241759600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr1:241740400-241768800	Weak transcription	Spleen	Spleen
3	chr1:241742000-241757400	Weak transcription	Primary T cells from cord blood	blood
4	chr1:241743000-241754000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:241743000-241757400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:241743200-241768600	Weak transcription	Esophagus	oesophagus
7	chr1:241746600-241779200	Weak transcription	Lung	lung
8	chr1:241746800-241761400	Weak transcription	GM12878-XiMat	blood
9	chr1:241746800-241779600	Weak transcription	Aorta	Aorta
10	chr1:241747000-241753800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:241747000-241757200	Weak transcription	HUVEC	blood vessel
12	chr1:241749000-241754400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:241749200-241760000	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:241749400-241757200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:241749400-241760200	Strong transcription	Liver	Liver
16	chr1:241750000-241759600	Strong transcription	Primary B cells from cord blood	blood
17	chr1:241750400-241757000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:241750600-241771600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:241750600-241786000	Weak transcription	Fetal Brain Female	brain
20	chr1:241750800-241752400	Enhancers	Placenta	Placenta
21	chr1:241750800-241759200	Weak transcription	Fetal Brain Male	brain
22	chr1:241750800-241768800	Weak transcription	Fetal Kidney	kidney
23	chr1:241750800-241771800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:241750800-241773400	Weak transcription	Brain Angular Gyrus	brain
25	chr1:241750800-241774600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:241750800-241786200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:241751400-241752200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:241751400-241752400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:241751400-241753200	Weak transcription	HMEC	breast
30	chr1:241751400-241753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:241751400-241753600	Weak transcription	NHEK	skin
32	chr1:241751400-241753800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:241751400-241754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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