Variant report

Variant	rs12567425
Chromosome Location	chr1:212262166-212262167
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	chr1:212260403..212263243-chr1:212265417..212267031,2	K562	blood:
2	chr1:212260044..212262870-chr1:212458652..212460803,2	K562	blood:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11119825	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11119826	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11119827	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11119844	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120122	0.89[ASN][1000 genomes]
rs12120150	0.89[ASN][1000 genomes]
rs12122247	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12122488	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12124877	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12125159	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126761	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12127488	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12130548	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131060	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12131750	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12132233	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12132812	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12144471	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12145020	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146085	0.86[ASN][1000 genomes]
rs12723988	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12744135	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747761	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12749452	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12750872	0.85[ASN][1000 genomes]
rs12755278	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759730	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17018334	0.81[ASN][1000 genomes]
rs17018421	0.97[ASN][1000 genomes]
rs17018532	0.94[ASN][1000 genomes]
rs1965955	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2200944	0.97[ASN][1000 genomes]
rs34192465	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34841259	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35325760	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3762453	0.91[ASN][1000 genomes]
rs3795836	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71646137	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72748568	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72750369	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212214400-212278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:212229600-212266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:212229800-212263000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:212229800-212266400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:212230000-212265200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:212233000-212266400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:212234000-212265400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:212234000-212265800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:212234200-212267400	Strong transcription	Dnd41	blood
10	chr1:212236000-212265200	Strong transcription	K562	blood
11	chr1:212237000-212266200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:212237200-212267000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:212237600-212266800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:212241600-212264200	Weak transcription	Fetal Brain Female	brain
15	chr1:212241600-212284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:212244600-212267200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:212249400-212266000	Strong transcription	A549	lung
18	chr1:212253000-212270800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:212254800-212278000	Weak transcription	NHDF-Ad	bronchial
20	chr1:212256000-212266600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:212256000-212266800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:212256000-212271000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:212256400-212264800	Weak transcription	HepG2	liver
24	chr1:212256400-212265800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:212256400-212271200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:212256400-212278600	Weak transcription	NHLF	lung
27	chr1:212257200-212262800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:212259400-212264600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:212259600-212262400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:212261000-212262200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:212261000-212262200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:212261000-212262200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:212261000-212262200	Enhancers	Lung	lung
34	chr1:212261000-212262200	Strong transcription	Thymus	Thymus
35	chr1:212261000-212262400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:212261000-212263400	Genic enhancers	Fetal Thymus	thymus
37	chr1:212261000-212263400	Enhancers	Right Atrium	heart
38	chr1:212261000-212264800	Enhancers	Fetal Heart	heart
39	chr1:212261000-212265200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:212261200-212262200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:212261200-212262200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:212261200-212262200	Enhancers	Fetal Lung	lung
43	chr1:212261200-212262200	Enhancers	Gastric	stomach
44	chr1:212261200-212262400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:212261200-212262400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:212261200-212263000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:212261200-212263400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:212261200-212263600	Enhancers	Primary T cells from cord blood	blood
49	chr1:212261200-212264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:212261400-212262200	Enhancers	Fetal Kidney	kidney

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