Variant report

Variant	rs2250130
Chromosome Location	chr6:69364839-69364840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:69358462..69361443-chr6:69362578..69364928,4	K562	blood:
2	chr6:69362720..69364963-chr6:69399822..69401400,2	K562	blood:
3	chr6:69355292..69359376-chr6:69359699..69365505,6	K562	blood:
4	chr6:69361875..69366635-chr6:69366839..69371569,10	K562	blood:
5	chr6:69346849..69353858-chr6:69356877..69365508,11	K562	blood:
6	chr6:69363582..69365214-chr6:69475043..69477739,2	K562	blood:
7	chr6:69364690..69367306-chr6:69368059..69370561,2	K562	blood:
8	chr6:69348216..69350779-chr6:69363202..69365467,2	K562	blood:
9	chr6:69359484..69364655-chr6:69364836..69370262,9	K562	blood:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2249399	1.00[CEU][hapmap];0.83[LWK][hapmap];1.00[AMR][1000 genomes]
rs2585591	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2585606	1.00[AMR][1000 genomes]
rs2585613	1.00[AMR][1000 genomes]
rs2585615	1.00[AMR][1000 genomes]
rs2746139	1.00[AMR][1000 genomes]
rs2802685	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2802686	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2802695	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2802711	1.00[AMR][1000 genomes]
rs352524	1.00[CEU][hapmap]
rs556962	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs570708	1.00[AMR][1000 genomes]
rs578564	1.00[AMR][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	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69352200-69399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:69359600-69365400	Enhancers	Fetal Lung	lung
3	chr6:69359600-69365800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:69362400-69365000	Enhancers	Brain Anterior Caudate	brain
5	chr6:69362400-69365800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:69362400-69366600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:69362400-69367600	Enhancers	Brain Substantia Nigra	brain
8	chr6:69363000-69369600	Weak transcription	Fetal Brain Male	brain
9	chr6:69363400-69367200	Active TSS	K562	blood
10	chr6:69363800-69366600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:69363800-69368400	Enhancers	Brain Cingulate Gyrus	brain
12	chr6:69364200-69365800	Enhancers	Brain Hippocampus Middle	brain
13	chr6:69364200-69367400	Enhancers	Brain Angular Gyrus	brain
14	chr6:69364200-69399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:69364800-69365800	Weak transcription	Brain Inferior Temporal Lobe	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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