Variant report

Variant	rs10485253
Chromosome Location	chr6:69994045-69994046
allele	A/T
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:13)

rs_ID	r²[population]
rs12209170	0.86[YRI][hapmap]
rs12529585	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs16900641	0.94[YRI][hapmap]
rs16900653	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs16900665	0.82[YRI][hapmap]
rs55638103	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6916748	1.00[EUR][1000 genomes]
rs6937300	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs73745995	0.91[AFR][1000 genomes]
rs73745998	1.00[EUR][1000 genomes]
rs73746002	1.00[EUR][1000 genomes]
rs9446102	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs9454705	0.90[YRI][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	nsv886137	chr6:69684850-70095690	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv432919	chr6:69873179-70221322	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv886139	chr6:69979989-70041922	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr6:69991000-70003400	Weak transcription	Fetal Brain Female	brain
2	chr6:69991800-70002800	Weak transcription	Brain Angular Gyrus	brain
3	chr6:69992000-70000000	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:69993200-69994200	Enhancers	Fetal Muscle Leg	muscle
5	chr6:69993200-69994400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:69993200-69994400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:69993400-69994400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:69993600-69994200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:69993600-69994200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:69993600-69994200	Enhancers	Brain Anterior Caudate	brain
11	chr6:69993600-69994400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:69993600-69994400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:69993600-69994600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:69993600-69994600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:69993800-69994200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:69993800-69994200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:69994000-69994600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:69994000-69994600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:69994000-69994600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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

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