Variant report

Variant	rs4767443
Chromosome Location	chr12:117183357-117183358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10774885	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10850707	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068169	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1532395	0.88[AFR][1000 genomes]
rs1969017	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134604	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7138403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7301614	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7312638	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1048004	chr12:117170738-117219076	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117176600-117197600	Weak transcription	Aorta	Aorta
2	chr12:117176600-117197800	Weak transcription	Right Atrium	heart
3	chr12:117176800-117197600	Weak transcription	Thymus	Thymus
4	chr12:117176800-117217400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:117177000-117187800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:117177000-117209400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:117177000-117217400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:117177200-117197600	Weak transcription	A549	lung
10	chr12:117177200-117216800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:117177200-117221000	Weak transcription	Fetal Brain Male	brain
12	chr12:117177400-117225800	Weak transcription	HepG2	liver
13	chr12:117177600-117217000	Weak transcription	GM12878-XiMat	blood
14	chr12:117178000-117185600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:117178000-117194400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:117178200-117188000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:117178400-117184000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr12:117179000-117191600	Weak transcription	Primary B cells from cord blood	blood
19	chr12:117179000-117197200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:117179000-117197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:117179000-117217200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:117179400-117187400	Weak transcription	Brain Anterior Caudate	brain
23	chr12:117179400-117187600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:117179400-117188000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:117179400-117191400	Weak transcription	Dnd41	blood
26	chr12:117179600-117198800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:117179800-117191800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:117180000-117184000	Weak transcription	Brain Germinal Matrix	brain
29	chr12:117180400-117188000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:117180800-117183400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:117180800-117197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:117181600-117184000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:117181600-117186600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:117181600-117194200	Strong transcription	Fetal Brain Female	brain
35	chr12:117181800-117188200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:117182200-117183400	Enhancers	Fetal Muscle Trunk	muscle
37	chr12:117182200-117185400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:117182200-117190000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:117182400-117185400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:117182600-117187800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:117182600-117187800	Weak transcription	Fetal Thymus	thymus
42	chr12:117182800-117197800	Weak transcription	Fetal Stomach	stomach
43	chr12:117182800-117198000	Weak transcription	Fetal Muscle Leg	muscle

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