Variant report

Variant	rs2027225
Chromosome Location	chr1:211792255-211792256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211769278..211770974-chr1:211790049..211792905,2	K562	blood:
2	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
3	chr1:211789857..211792626-chr1:211793343..211797405,3	MCF-7	breast:
4	chr1:211769278..211771749-chr1:211790049..211793183,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1123527	1.00[ASN][1000 genomes]
rs11799776	1.00[ASN][1000 genomes]
rs12742934	1.00[ASN][1000 genomes]
rs1867376	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34550869	1.00[ASN][1000 genomes]
rs4951538	0.91[AFR][1000 genomes]
rs55960543	1.00[ASN][1000 genomes]
rs56320548	1.00[ASN][1000 genomes]
rs6684175	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6694934	1.00[ASN][1000 genomes]
rs726986	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs745496	1.00[ASN][1000 genomes]
rs7536267	1.00[CHB][hapmap]
rs7548952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7550089	1.00[CHB][hapmap]
rs9429874	1.00[ASN][1000 genomes]
rs9429875	1.00[CHB][hapmap]
rs9430072	1.00[ASN][1000 genomes]
rs9430074	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9430077	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:211785600-211794800	Weak transcription	Brain Anterior Caudate	brain
2	chr1:211787000-211796800	Weak transcription	Gastric	stomach
3	chr1:211787400-211793400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211788200-211794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:211788400-211793400	Weak transcription	Spleen	Spleen
6	chr1:211788800-211792600	Enhancers	HepG2	liver
7	chr1:211789200-211792600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:211790200-211794800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:211790200-211794800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:211790400-211794400	Weak transcription	Esophagus	oesophagus
11	chr1:211790400-211794600	Weak transcription	Right Atrium	heart
12	chr1:211790400-211794800	Weak transcription	Right Ventricle	heart
13	chr1:211790400-211795200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:211790400-211796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:211790400-211798400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:211790400-211803600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:211790600-211794800	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:211790600-211795000	Weak transcription	Adipose Nuclei	Adipose
19	chr1:211790800-211792800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:211791400-211794800	Weak transcription	Left Ventricle	heart
21	chr1:211792200-211793000	Enhancers	Liver	Liver
22	chr1:211792200-211793400	Enhancers	Fetal Intestine Large	intestine
23	chr1:211792200-211793400	Enhancers	Fetal Intestine Small	intestine
24	chr1:211792200-211793800	Enhancers	K562	blood

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