Variant report

Variant	rs4766224
Chromosome Location	chr12:4355148-4355149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4352357..4356194-chr12:4379938..4384126,3	K562	blood:

Variant related genes	Relation type
ENSG00000118971	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2241286	1.00[YRI][hapmap]
rs4766231	1.00[AFR][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	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541360	chr12:4338851-4389238	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4349200-4356000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:4349200-4356000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:4349800-4361600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:4350800-4356200	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:4351600-4357600	Enhancers	Fetal Muscle Leg	muscle
6	chr12:4352200-4359400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:4352400-4356000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:4352600-4355200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:4352600-4356400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:4352600-4361800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:4352800-4356400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:4352800-4356400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:4352800-4356400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:4353000-4355600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:4353200-4359600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:4353600-4355400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:4353800-4356000	Enhancers	Fetal Thymus	thymus
18	chr12:4354000-4356200	Enhancers	Fetal Lung	lung
19	chr12:4354200-4355600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:4354200-4356000	Enhancers	Fetal Stomach	stomach
21	chr12:4354200-4356200	Enhancers	GM12878-XiMat	blood
22	chr12:4354400-4356000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:4354600-4355200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:4354800-4355600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:4354800-4355800	Enhancers	Thymus	Thymus
26	chr12:4354800-4356000	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:4354800-4356000	Enhancers	Brain Germinal Matrix	brain
28	chr12:4354800-4356000	Enhancers	Fetal Intestine Large	intestine
29	chr12:4354800-4356000	Enhancers	Fetal Intestine Small	intestine
30	chr12:4354800-4356200	Enhancers	Primary B cells from cord blood	blood
31	chr12:4354800-4356400	Enhancers	Placenta	Placenta
32	chr12:4355000-4355400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:4355000-4355400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:4355000-4356000	Enhancers	Fetal Muscle Trunk	muscle

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