Variant report

Variant	rs1869427
Chromosome Location	chr2:30874553-30874554
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30869127..30871765-chr2:30871926..30874749,3	K562	blood:
2	chr2:30873034..30877433-chr2:30878993..30882629,5	MCF-7	breast:
3	chr2:30872918..30875377-chr2:30876249..30879009,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10153933	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10189926	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10195537	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10201957	0.82[AMR][1000 genomes]
rs10207451	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10208152	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1026066	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1031236	0.86[ASN][1000 genomes]
rs11127283	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127284	0.81[EUR][1000 genomes]
rs12185696	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12994945	0.83[ASN][1000 genomes]
rs12997116	1.00[ASN][1000 genomes]
rs13013282	1.00[ASN][1000 genomes]
rs13429099	0.87[AFR][1000 genomes]
rs17323641	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1901910	1.00[ASN][1000 genomes]
rs2363078	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2885931	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34585086	0.83[ASN][1000 genomes]
rs34658981	0.83[ASN][1000 genomes]
rs35148876	0.83[ASN][1000 genomes]
rs4372952	0.83[ASN][1000 genomes]
rs59076230	0.81[EUR][1000 genomes]
rs62139626	0.80[AMR][1000 genomes]
rs62139651	0.91[AFR][1000 genomes]
rs62142162	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62142164	1.00[ASN][1000 genomes]
rs6713112	1.00[ASN][1000 genomes]
rs6743856	1.00[ASN][1000 genomes]
rs71444466	0.83[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:30860400-30878200	Weak transcription	NHLF	lung
6	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
7	chr2:30863600-30882200	Weak transcription	Ovary	ovary
8	chr2:30864000-30874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:30864800-30875200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:30864800-30876600	Weak transcription	Osteobl	bone
11	chr2:30865000-30875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:30865200-30878200	Weak transcription	A549	lung
14	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas
15	chr2:30872200-30876600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:30872400-30878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:30872400-30878200	Weak transcription	Left Ventricle	heart
18	chr2:30872600-30876400	Weak transcription	NHDF-Ad	bronchial
19	chr2:30872600-30876600	Weak transcription	Right Ventricle	heart
20	chr2:30872600-30877600	Weak transcription	HSMMtube	muscle
21	chr2:30873000-30876400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:30873000-30876800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:30873600-30875200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:30873600-30875200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:30873600-30876200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:30874200-30875000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:30874200-30875000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:30874400-30874600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:30874400-30874600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:30874400-30875000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:30874400-30875800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:30874400-30876000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:30874400-30876400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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