Variant report

Variant	rs72970622
Chromosome Location	chr2:100856103-100856104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10166685	1.00[ASN][1000 genomes]
rs4851275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851276	1.00[ASN][1000 genomes]
rs4851277	1.00[ASN][1000 genomes]
rs4851280	1.00[ASN][1000 genomes]
rs60773046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732839	1.00[ASN][1000 genomes]
rs72954112	0.88[AFR][1000 genomes]
rs72970619	0.94[AFR][1000 genomes]

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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100851800-100859200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:100852000-100857000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:100852000-100859000	Weak transcription	Lung	lung
4	chr2:100852400-100859000	Weak transcription	Spleen	Spleen
5	chr2:100853400-100856600	Enhancers	Fetal Brain Male	brain
6	chr2:100853600-100856200	Enhancers	Brain Germinal Matrix	brain
7	chr2:100853800-100859200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:100854000-100858600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:100854400-100856200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:100854400-100856400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:100854600-100858800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100854600-100859000	Weak transcription	Fetal Thymus	thymus
13	chr2:100854800-100856400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:100855000-100856600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:100855200-100856400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:100855200-100856600	Enhancers	Fetal Muscle Leg	muscle
17	chr2:100855200-100865600	Weak transcription	Thymus	Thymus
18	chr2:100855400-100856600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:100855400-100859200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:100855600-100856400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:100856000-100856400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr2:100856000-100856600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:100856000-100856600	Enhancers	Fetal Lung	lung
24	chr2:100856000-100858000	Weak transcription	Primary B cells from peripheral blood	blood

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