Variant report

Variant	rs17183633
Chromosome Location	chr12:4551779-4551780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4550824..4553664-chr12:4554520..4557456,3	K562	blood:

Variant related genes	Relation type
ENSG00000111241	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11610220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610225	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611403	1.00[ASN][1000 genomes]
rs11613495	1.00[ASN][1000 genomes]
rs17177165	1.00[ASN][1000 genomes]
rs17177242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970822	0.90[ASN][1000 genomes]
rs2970823	0.90[ASN][1000 genomes]
rs2970828	1.00[ASN][1000 genomes]
rs2970829	1.00[ASN][1000 genomes]
rs2970830	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4548200-4552400	Enhancers	Fetal Muscle Leg	muscle
2	chr12:4548400-4553400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:4548400-4553600	Enhancers	Fetal Thymus	thymus
4	chr12:4548600-4552400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:4548600-4554800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:4549000-4552000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:4549200-4552000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:4549400-4551800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:4549400-4551800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:4549600-4558800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:4549800-4551800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr12:4550000-4553800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:4550600-4552000	Flanking Active TSS	Dnd41	blood
14	chr12:4550800-4552200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr12:4551000-4559000	Weak transcription	Right Atrium	heart
16	chr12:4551200-4551800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:4551200-4553000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:4551200-4554200	Weak transcription	Psoas Muscle	Psoas
19	chr12:4551400-4551800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:4551400-4551800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:4551400-4552000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:4551400-4552400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:4551600-4552000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:4551600-4552400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:4551600-4553000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:4551600-4553400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:4551600-4553600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr12:4551600-4556400	Weak transcription	Fetal Brain Male	brain

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