Variant report

Variant	rs73704957
Chromosome Location	chr8:126397421-126397422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126395134..126397539-chr8:126398871..126401287,2	K562	blood:
2	chr8:126395154..126398210-chr8:126400039..126403336,3	MCF-7	breast:
3	chr8:126397190..126399796-chr8:126399864..126401786,2	K562	blood:
4	chr8:126394870..126400757-chr8:126440736..126444862,8	MCF-7	breast:
5	chr8:126396237..126399236-chr8:126405521..126409652,3	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56117234	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56988673	1.00[EUR][1000 genomes]
rs57687393	1.00[EUR][1000 genomes]
rs58318216	1.00[EUR][1000 genomes]
rs58818314	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59667546	1.00[EUR][1000 genomes]
rs60051203	1.00[EUR][1000 genomes]
rs6983990	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6990205	1.00[EUR][1000 genomes]
rs6992378	1.00[EUR][1000 genomes]
rs6992389	1.00[EUR][1000 genomes]
rs7001448	1.00[EUR][1000 genomes]
rs73336865	1.00[EUR][1000 genomes]
rs73704923	1.00[EUR][1000 genomes]
rs73704928	1.00[EUR][1000 genomes]
rs73704930	1.00[EUR][1000 genomes]
rs73704939	1.00[EUR][1000 genomes]
rs7820336	1.00[EUR][1000 genomes]
rs7822467	1.00[EUR][1000 genomes]
rs7834583	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126384200-126400200	Weak transcription	NHLF	lung
2	chr8:126390000-126398400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:126391400-126397800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:126392000-126398200	Weak transcription	HUVEC	blood vessel
5	chr8:126392600-126398200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:126392800-126397800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:126392800-126398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:126393200-126398000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:126393400-126398200	Weak transcription	Psoas Muscle	Psoas
10	chr8:126393800-126399600	Enhancers	K562	blood
11	chr8:126394200-126397800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:126395200-126398400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:126395400-126398200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:126395400-126398200	Weak transcription	A549	lung
15	chr8:126395800-126398000	Weak transcription	Fetal Thymus	thymus
16	chr8:126395800-126398600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr8:126396000-126398400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:126396200-126398400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:126396400-126397600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:126396400-126398000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:126396400-126400400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:126396800-126397600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:126396800-126398200	Enhancers	Hela-S3	cervix
24	chr8:126396800-126398800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:126397200-126397600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr8:126397200-126397600	Weak transcription	NH-A	brain
27	chr8:126397200-126398400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:126397200-126398400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:126397400-126397600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:126397400-126397800	Weak transcription	Fetal Brain Male	brain
31	chr8:126397400-126398600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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