Variant report

Variant	rs16824704
Chromosome Location	chr2:205997884-205997885
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205996235..205998049-chr2:206006263..206008470,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1510769	0.94[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836974	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34053924	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6435270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738364	0.88[AFR][1000 genomes]
rs6757073	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9784156	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:20 , 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	chr2:205973400-205998200	Weak transcription	Psoas Muscle	Psoas
4	chr2:205976800-206024400	Weak transcription	Aorta	Aorta
5	chr2:205977200-206000200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:205979400-206014600	Weak transcription	Pancreas	Pancrea
7	chr2:205982600-206003000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:205984600-205998000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:205986000-206004400	Weak transcription	Stomach Mucosa	stomach
10	chr2:205989000-206003400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:205990600-206003000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:205990600-206005600	Weak transcription	Left Ventricle	heart
13	chr2:205990800-205998000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:205991000-206002800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:205991000-206004200	Weak transcription	Adipose Nuclei	Adipose
16	chr2:205991000-206004600	Weak transcription	Fetal Intestine Large	intestine
17	chr2:205991000-206036600	Weak transcription	HSMM	muscle
18	chr2:205994600-206025800	Weak transcription	Fetal Kidney	kidney
19	chr2:205994800-205998000	Weak transcription	Fetal Lung	lung
20	chr2:205995600-206004000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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