Variant report

Variant	rs7595390
Chromosome Location	chr2:211039207-211039208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:211038387..211040398-chr2:211040705..211042803,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10173943	0.90[YRI][hapmap]
rs10197463	0.89[YRI][hapmap]
rs11889168	0.95[YRI][hapmap]
rs2080157	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2110315	0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs2539008	1.00[YRI][hapmap]
rs2539009	1.00[YRI][hapmap]
rs2539867	0.89[YRI][hapmap]
rs263669	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263670	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263672	0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263687	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435552	0.87[AMR][1000 genomes]
rs6761902	0.95[YRI][hapmap];0.87[AMR][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	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
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr2:211037000-211042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:211037000-211045000	Weak transcription	Gastric	stomach
3	chr2:211037000-211045000	Weak transcription	Pancreas	Pancrea
4	chr2:211037000-211046600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:211037200-211044800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:211037200-211046800	Weak transcription	Left Ventricle	heart
7	chr2:211037200-211049600	Weak transcription	Aorta	Aorta
8	chr2:211037400-211039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:211037400-211042400	Weak transcription	Psoas Muscle	Psoas
10	chr2:211037600-211044800	Weak transcription	Stomach Mucosa	stomach
11	chr2:211037800-211039400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:211037800-211042200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:211037800-211042400	Weak transcription	Thymus	Thymus
14	chr2:211037800-211044600	Weak transcription	Fetal Lung	lung
15	chr2:211038000-211042000	Weak transcription	Dnd41	blood
16	chr2:211038000-211042200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:211038000-211042400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:211038000-211042400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:211038000-211042600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:211038000-211044600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:211038000-211049200	Weak transcription	Liver	Liver
22	chr2:211038400-211042400	Weak transcription	Fetal Thymus	thymus
23	chr2:211039200-211046600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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