Variant report

Variant	rs17183682
Chromosome Location	chr12:4548362-4548363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11063065	1.00[EUR][1000 genomes]
rs11063066	1.00[EUR][1000 genomes]
rs11832225	1.00[EUR][1000 genomes]
rs11835600	1.00[EUR][1000 genomes]
rs12298350	1.00[EUR][1000 genomes]
rs12310230	1.00[EUR][1000 genomes]
rs12310388	1.00[EUR][1000 genomes]
rs12317697	1.00[EUR][1000 genomes]
rs12318331	1.00[EUR][1000 genomes]
rs16931423	1.00[EUR][1000 genomes]
rs17177340	1.00[EUR][1000 genomes]
rs17177360	1.00[EUR][1000 genomes]
rs17183536	1.00[EUR][1000 genomes]
rs17183710	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17183723	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17183737	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17183792	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56182400	1.00[EUR][1000 genomes]
rs56196412	1.00[EUR][1000 genomes]
rs57806527	1.00[EUR][1000 genomes]
rs58880130	1.00[EUR][1000 genomes]
rs73253459	1.00[EUR][1000 genomes]
rs73257423	1.00[EUR][1000 genomes]
rs74060036	1.00[EUR][1000 genomes]
rs7974906	1.00[EUR][1000 genomes]
rs7978924	1.00[EUR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4533400-4549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:4542600-4550400	Weak transcription	Right Atrium	heart
3	chr12:4542800-4549000	Weak transcription	Left Ventricle	heart
4	chr12:4543200-4549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:4544400-4549000	Weak transcription	Psoas Muscle	Psoas
6	chr12:4544400-4549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:4544600-4548400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:4544600-4548600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:4544600-4549000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:4545000-4548600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:4545000-4549600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:4545400-4548400	Weak transcription	Fetal Thymus	thymus
13	chr12:4545600-4549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:4546600-4548400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:4546800-4548600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:4546800-4548600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:4546800-4548600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:4547000-4548600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:4547400-4549600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:4547400-4550000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:4547600-4548400	Enhancers	Fetal Brain Male	brain
22	chr12:4548000-4549200	Enhancers	GM12878-XiMat	blood
23	chr12:4548000-4549400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:4548000-4549600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:4548000-4549800	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:4548000-4550000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:4548000-4550600	Enhancers	Dnd41	blood
28	chr12:4548000-4551600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:4548200-4548800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr12:4548200-4549000	Enhancers	HSMMtube	muscle
31	chr12:4548200-4550400	Enhancers	Primary B cells from cord blood	blood
32	chr12:4548200-4552400	Enhancers	Fetal Muscle Leg	muscle

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