Variant report

Variant	rs4078
Chromosome Location	chr12:21476983-21476984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21476298..21478074-chr12:21570042..21572071,2	K562	blood:

Variant related genes	Relation type
ENSG00000084453	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10505872	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045919	1.00[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs11045926	0.90[EUR][1000 genomes]
rs11045927	1.00[CEU][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs12298817	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12300594	1.00[CEU][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs12303996	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12317843	0.90[EUR][1000 genomes]
rs16923597	1.00[CEU][hapmap];0.95[TSI][hapmap]
rs17333047	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3764041	0.93[CEU][hapmap]
rs4140389	0.93[CEU][hapmap]
rs4149005	0.93[CEU][hapmap]
rs4149008	0.93[CEU][hapmap]
rs60594228	0.91[EUR][1000 genomes]
rs61926244	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61926247	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61926248	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61926249	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61926252	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61926253	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61927760	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61927761	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61927763	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61927777	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61927778	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61927779	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61927780	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61927781	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61927782	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61927783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61927784	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61927785	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61927786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61927787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61927788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61927789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs722994	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7955581	0.93[CEU][hapmap]
rs7958005	1.00[MEX][hapmap]
rs7967354	0.93[CEU][hapmap]
rs7974575	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7980167	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7980490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	nsv557735	chr12:21443282-21538957	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21473800-21477800	Active TSS	Brain Angular Gyrus	brain
2	chr12:21473800-21477800	Active TSS	Brain Cingulate Gyrus	brain
3	chr12:21473800-21478200	Active TSS	Brain Anterior Caudate	brain
4	chr12:21474600-21477800	Active TSS	Brain Hippocampus Middle	brain
5	chr12:21474800-21478000	Active TSS	Brain Substantia Nigra	brain
6	chr12:21475400-21478000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:21475600-21477400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:21476200-21477000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:21476400-21477400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:21476400-21478200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:21476600-21477000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr12:21476600-21477000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:21476600-21477200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:21476600-21477800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:21476800-21477000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:21476800-21477600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:21476800-21477800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:21476800-21478200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:21476800-21478200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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