Variant report

Variant	rs2568414
Chromosome Location	chr8:130423225-130423226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:130421984-130431837	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130419285..130421126-chr8:130422291..130424693,2	K562	blood:
2	chr8:130422480..130424858-chr8:130426519..130428589,2	K562	blood:

Variant related genes	Relation type
ENSG00000253926	TF binding region
ENSG00000253926	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12678134	0.92[EUR][1000 genomes]
rs1583246	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs2016932	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2250954	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2568406	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2568408	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2568409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568410	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2568411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568412	0.84[ASN][1000 genomes]
rs2568413	0.84[ASN][1000 genomes]
rs2579861	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2579862	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2579863	0.81[ASN][1000 genomes]
rs2579864	0.84[ASN][1000 genomes]
rs2579868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579875	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2579876	0.84[ASN][1000 genomes]
rs2579877	0.84[ASN][1000 genomes]
rs2579878	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2630511	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2630512	0.84[ASN][1000 genomes]
rs2630513	0.84[ASN][1000 genomes]
rs2630515	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2630516	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs2630520	0.87[JPT][hapmap]
rs2630521	0.80[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs2719194	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2719204	0.84[ASN][1000 genomes]
rs2719205	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2719207	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2719209	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2719222	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs7006807	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7017294	0.92[EUR][1000 genomes]
rs7827080	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs7827184	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7827239	0.84[ASN][1000 genomes]
rs7827366	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs976437	0.81[CHB][hapmap]

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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv968553	chr8:130416069-130423976	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130416800-130426600	Strong transcription	K562	blood
3	chr8:130418800-130424000	Weak transcription	Dnd41	blood
4	chr8:130419200-130423400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:130419600-130423600	Weak transcription	Fetal Stomach	stomach
6	chr8:130419800-130423600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:130419800-130425800	Weak transcription	Fetal Thymus	thymus
8	chr8:130419800-130427000	Weak transcription	Thymus	Thymus
9	chr8:130420000-130424000	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:130421600-130423600	Weak transcription	Fetal Heart	heart
11	chr8:130422400-130423400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:130423000-130423800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:130423200-130423800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:130423200-130424000	Enhancers	Primary B cells from peripheral blood	blood

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