Variant report

Variant	rs4540253
Chromosome Location	chr6:28383714-28383715
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28369764..28371489-chr6:28380154..28383821,4	K562	blood:
2	chr6:28365464..28369045-chr6:28381351..28384382,6	K562	blood:
3	chr6:28382729..28384623-chr6:28406130..28408766,2	K562	blood:
4	chr6:28365314..28368724-chr6:28382074..28385198,3	K562	blood:

Variant related genes	Relation type
ENSG00000158691	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11546572	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2079705	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232430	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2394101	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2531818	0.81[EUR][1000 genomes]
rs2531821	0.89[EUR][1000 genomes]
rs28382590	0.84[EUR][1000 genomes]
rs28382595	0.84[EUR][1000 genomes]
rs28382599	0.84[EUR][1000 genomes]
rs28382602	0.82[EUR][1000 genomes]
rs28382603	0.84[EUR][1000 genomes]
rs28382609	0.82[EUR][1000 genomes]
rs28382614	0.84[EUR][1000 genomes]
rs28745594	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34757087	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34951544	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35062161	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35758328	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269285	1.00[AFR][1000 genomes]
rs41269289	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs41269291	1.00[AFR][1000 genomes]
rs41270579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270589	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270593	0.80[EUR][1000 genomes]
rs41270596	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4412194	0.87[CEU][hapmap]
rs55965649	0.80[EUR][1000 genomes]
rs56043329	0.82[EUR][1000 genomes]
rs56975420	0.82[EUR][1000 genomes]
rs58078500	0.84[EUR][1000 genomes]
rs59653352	0.80[EUR][1000 genomes]
rs72844204	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844218	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72844220	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844223	1.00[EUR][1000 genomes]
rs72844224	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844225	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844226	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844244	0.84[EUR][1000 genomes]
rs72846802	1.00[AFR][1000 genomes]
rs72849204	1.00[AFR][1000 genomes]
rs72849206	1.00[AFR][1000 genomes]
rs72849210	1.00[AFR][1000 genomes]
rs72849214	1.00[AFR][1000 genomes]
rs72849222	1.00[AFR][1000 genomes]
rs72850077	0.82[EUR][1000 genomes]
rs72850297	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72850298	1.00[AFR][1000 genomes]
rs72850299	1.00[AFR][1000 genomes]
rs72850300	1.00[AFR][1000 genomes]
rs72850302	1.00[AFR][1000 genomes]
rs72854503	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72854515	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72854521	1.00[AFR][1000 genomes]
rs72854522	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72854524	1.00[AMR][1000 genomes]
rs72854525	1.00[AFR][1000 genomes]
rs72854527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72854531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72854533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72854535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72854536	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752415	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7770236	1.00[EUR][1000 genomes]
rs9468379	0.88[CEU][hapmap]

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	esv1836974	chr6:28376981-28398748	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28371200-28410400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:28377000-28386600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:28377600-28390200	Weak transcription	Fetal Lung	lung
4	chr6:28379400-28389200	Weak transcription	HSMM	muscle
5	chr6:28380800-28390600	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:28381400-28390000	Weak transcription	Fetal Brain Female	brain
7	chr6:28382600-28386600	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:28382800-28387600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:28383400-28390600	Weak transcription	Fetal Stomach	stomach
10	chr6:28383600-28392600	Weak transcription	Brain Germinal Matrix	brain

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