Variant report

Variant	rs1427506
Chromosome Location	chr2:145351120-145351121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145273713..145277335-chr2:145350647..145355580,8	K562	blood:
2	chr2:145338348..145347477-chr2:145350435..145356314,14	K562	blood:
3	chr2:145280446..145282014-chr2:145350666..145353467,2	K562	blood:
4	chr2:145280408..145282014-chr2:145350666..145354133,3	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10187896	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10201960	0.94[ASN][1000 genomes]
rs1035837	0.92[ASN][1000 genomes]
rs10496964	0.94[ASN][1000 genomes]
rs10496965	0.93[ASN][1000 genomes]
rs10803510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12691695	0.94[ASN][1000 genomes]
rs12691696	0.89[ASN][1000 genomes]
rs13020210	0.92[ASN][1000 genomes]
rs1346343	0.96[ASN][1000 genomes]
rs1346344	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs1427499	0.91[ASN][1000 genomes]
rs1427500	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs1427507	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs1427508	0.96[ASN][1000 genomes]
rs1559964	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16823886	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17690892	0.94[ASN][1000 genomes]
rs17741930	0.94[ASN][1000 genomes]
rs1834787	0.89[ASN][1000 genomes]
rs2162571	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs2381649	0.92[ASN][1000 genomes]
rs4143008	0.90[CHB][hapmap]
rs4143011	0.89[ASN][1000 genomes]
rs4662385	0.94[ASN][1000 genomes]
rs4662386	0.94[ASN][1000 genomes]
rs4662388	0.92[ASN][1000 genomes]
rs6727224	0.96[ASN][1000 genomes]
rs6731249	0.89[ASN][1000 genomes]
rs7565134	0.92[ASN][1000 genomes]
rs767381	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv531662	chr2:145219415-145422833	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145340000-145352000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:145341200-145352800	Weak transcription	Right Atrium	heart
3	chr2:145344400-145353200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:145349200-145355000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:145349600-145351600	Weak transcription	K562	blood
6	chr2:145349600-145352800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:145349600-145353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:145349600-145353200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:145349800-145351200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:145349800-145351600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:145349800-145353200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:145350000-145351400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:145350000-145351400	Enhancers	HUVEC	blood vessel
14	chr2:145350000-145351400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:145350000-145351600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:145350000-145353600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:145350200-145351200	Enhancers	Primary B cells from cord blood	blood
18	chr2:145350200-145351600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:145350200-145351800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:145350200-145352600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:145350200-145352600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:145350200-145352800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:145350400-145352600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:145350400-145353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:145350600-145351400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:145350600-145353400	Weak transcription	Brain Angular Gyrus	brain
27	chr2:145350600-145353600	Weak transcription	Adipose Nuclei	Adipose
28	chr2:145350600-145353600	Weak transcription	A549	lung
29	chr2:145350800-145351200	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:145350800-145352200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:145350800-145352600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:145350800-145352600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:145350800-145353600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:145351000-145351600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:145351000-145351800	Enhancers	Brain Anterior Caudate	brain
36	chr2:145351000-145353200	Weak transcription	Primary B cells from peripheral blood	blood

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