Variant report

Variant	rs6707548
Chromosome Location	chr2:206005990-206005991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1510769	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836920	1.00[AMR][1000 genomes]
rs16836922	1.00[AMR][1000 genomes]
rs16836928	1.00[AMR][1000 genomes]
rs16836946	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34053924	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6435270	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738364	0.86[AFR][1000 genomes]
rs6757073	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057200	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9784156	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1000779	chr2:205969138-206064554	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009424	chr2:205969138-206078240	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525418	chr2:205969220-206077607	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv875729	chr2:205972555-206027314	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv1596778	chr2:206005991-206005995	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205953400-206007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:205970000-206026000	Weak transcription	HSMMtube	muscle
3	chr2:205976800-206024400	Weak transcription	Aorta	Aorta
4	chr2:205979400-206014600	Weak transcription	Pancreas	Pancrea
5	chr2:205991000-206036600	Weak transcription	HSMM	muscle
6	chr2:205994600-206025800	Weak transcription	Fetal Kidney	kidney
7	chr2:206002400-206006600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:206003000-206006000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:206003000-206006600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:206003400-206006800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:206003800-206016200	Weak transcription	Right Atrium	heart
12	chr2:206004600-206007200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:206005200-206006000	Enhancers	HUVEC	blood vessel
14	chr2:206005200-206006800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:206005200-206007000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:206005200-206007200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:206005200-206007200	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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