Variant report

Variant	rs12530684
Chromosome Location	chr7:25296054-25296055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1008929	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11769704	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11770584	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11770932	0.95[ASN][1000 genomes]
rs11773410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12538631	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223273	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17304305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391107	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34537571	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946398	1.00[YRI][hapmap]
rs6961642	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs73092102	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606424	chr7:24982529-25466521	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv606426	chr7:25254125-25621579	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr7:25286400-25299200	Weak transcription	Fetal Kidney	kidney
2	chr7:25294600-25296200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:25294600-25296200	Enhancers	Brain Germinal Matrix	brain
4	chr7:25294600-25296400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:25294800-25296200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr7:25295000-25296400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr7:25295000-25296600	Enhancers	Fetal Intestine Small	intestine
8	chr7:25295000-25296800	Enhancers	Fetal Heart	heart
9	chr7:25295200-25296200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:25295200-25296200	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:25295200-25296400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:25295200-25296800	Enhancers	Fetal Intestine Large	intestine
13	chr7:25295200-25301000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:25295400-25296200	Enhancers	Fetal Muscle Leg	muscle
15	chr7:25295400-25296600	Enhancers	Fetal Brain Female	brain
16	chr7:25295600-25296600	Enhancers	Fetal Brain Male	brain
17	chr7:25295800-25296400	Enhancers	Fetal Stomach	stomach
18	chr7:25295800-25301000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:25296000-25299600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	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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