Variant report

Variant	rs28369818
Chromosome Location	chr1:171158008-171158009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171049785..171051089-chr1:171157506..171158409,9	MCF-7	breast:
2	chr1:170936285..170936841-chr1:171157519..171158468,2	MCF-7	breast:
3	chr1:171151483..171154581-chr1:171157949..171161924,3	MCF-7	breast:
4	chr1:171157094..171159925-chr1:171161242..171162761,2	K562	blood:
5	chr1:171050091..171050825-chr1:171157560..171158443,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094963	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12121072	0.90[ASN][1000 genomes]
rs12124505	0.90[ASN][1000 genomes]
rs12126946	0.90[ASN][1000 genomes]
rs12563218	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12750404	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2020870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072756	0.90[ASN][1000 genomes]
rs2075989	0.90[ASN][1000 genomes]
rs28369789	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28369802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28369803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28369863	0.91[ASN][1000 genomes]
rs28369865	0.92[ASN][1000 genomes]
rs28369918	0.90[ASN][1000 genomes]
rs28384819	0.90[ASN][1000 genomes]
rs6662994	0.84[ASN][1000 genomes]
rs6662995	0.84[ASN][1000 genomes]
rs6677549	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6700357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6700359	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74122249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7518693	0.92[ASN][1000 genomes]
rs7519117	0.86[ASN][1000 genomes]
rs7527067	0.90[ASN][1000 genomes]
rs7527478	0.90[ASN][1000 genomes]
rs7539639	0.92[ASN][1000 genomes]
rs7542361	0.92[ASN][1000 genomes]
rs7551282	0.90[ASN][1000 genomes]
rs7556029	0.92[ASN][1000 genomes]
rs7884276	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7887919	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised 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	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171153400-171159000	Active TSS	Aorta	Aorta
2	chr1:171154000-171159600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:171154200-171158800	Active TSS	Psoas Muscle	Psoas
4	chr1:171154200-171159000	Active TSS	Left Ventricle	heart
5	chr1:171154200-171160800	Active TSS	Right Atrium	heart
6	chr1:171156000-171158400	Enhancers	Fetal Lung	lung
7	chr1:171156400-171165800	Weak transcription	Gastric	stomach
8	chr1:171156600-171158600	Weak transcription	Lung	lung
9	chr1:171156600-171163800	Weak transcription	Small Intestine	intestine
10	chr1:171156600-171169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:171156600-171177200	Weak transcription	Esophagus	oesophagus
12	chr1:171156600-171179600	Weak transcription	NHLF	lung
13	chr1:171156800-171158200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:171156800-171179600	Weak transcription	Right Ventricle	heart
15	chr1:171157200-171158400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:171157400-171159000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:171157600-171160000	Enhancers	Fetal Intestine Large	intestine
18	chr1:171157800-171165600	Weak transcription	Ovary	ovary
19	chr1:171158000-171158200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:171158000-171158200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:171158000-171158400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:171158000-171158400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:171158000-171158400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:171158000-171158400	Active TSS	Liver	Liver
25	chr1:171158000-171160000	Enhancers	Duodenum Mucosa	Duodenum

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