Variant report

Variant	rs6435543
Chromosome Location	chr2:210695589-210695590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210565316..210567066-chr2:210695462..210698010,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10170320	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10490023	0.98[ASN][1000 genomes]
rs13412505	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13420529	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13432185	0.98[ASN][1000 genomes]
rs13432245	0.98[ASN][1000 genomes]
rs16843726	0.97[ASN][1000 genomes]
rs2286852	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58461898	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6713928	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6727260	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6727370	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6735695	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6742553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7581661	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288412	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv3142	chr2:210660150-210705006	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210680000-210706800	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:210682000-210769600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:210683000-210696000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:210683600-210704000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:210683800-210704200	Weak transcription	Brain Germinal Matrix	brain
6	chr2:210685800-210708400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:210686000-210697600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:210686000-210698400	Weak transcription	Brain Anterior Caudate	brain
9	chr2:210686000-210720400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:210686200-210704000	Weak transcription	Fetal Brain Female	brain
11	chr2:210686400-210695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:210686400-210703800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:210686400-210705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:210695400-210695600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:210695400-210695600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:210695400-210695800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:210695400-210696200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:210695400-210696400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:210695400-210696400	Strong transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:210695400-210696600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:210695400-210696800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:210695400-210696800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:210695400-210697000	Enhancers	HUES64 Cell Line	embryonic stem cell

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