Variant report

Variant	rs4572536
Chromosome Location	chr2:145352025-145352026
allele	A/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
ENSG00000238057	Chromatin interaction
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1365901	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427496	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4356607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4662230	1.00[AMR][1000 genomes]
rs73962016	1.00[AMR][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145341200-145352800	Weak transcription	Right Atrium	heart
2	chr2:145344400-145353200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:145349200-145355000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:145349600-145352800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:145349600-145353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:145349600-145353200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:145349800-145353200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:145350000-145353600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:145350200-145352600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:145350200-145352600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:145350200-145352800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:145350400-145352600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:145350400-145353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:145350600-145353400	Weak transcription	Brain Angular Gyrus	brain
15	chr2:145350600-145353600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:145350600-145353600	Weak transcription	A549	lung
17	chr2:145350800-145352200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:145350800-145352600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:145350800-145352600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:145350800-145353600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:145351000-145353200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:145351200-145352600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:145351200-145352800	Weak transcription	Primary B cells from cord blood	blood
24	chr2:145351400-145352600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:145351400-145353400	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:145351400-145354200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:145351600-145352200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:145351600-145352200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:145351600-145352800	Enhancers	K562	blood
30	chr2:145351600-145354400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:145351800-145352600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:145351800-145353000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:145351800-145353400	Weak transcription	Brain Anterior Caudate	brain
34	chr2:145351800-145353600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:145351800-145354400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:145352000-145352200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr2:145352000-145352600	Weak transcription	Brain Substantia Nigra	brain
38	chr2:145352000-145353600	Enhancers	HUVEC	blood vessel
39	chr2:145352000-145353800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:145352000-145354200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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