Variant report

Variant	rs12186122
Chromosome Location	chr4:110419960-110419961
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	chr4:110418898..110420639-chr4:110427969..110430594,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10516556	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4698789	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72672696	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv525385	chr4:110395146-110466413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110393200-110422600	Weak transcription	Right Atrium	heart
2	chr4:110393800-110469200	Weak transcription	Stomach Mucosa	stomach
3	chr4:110400200-110455400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:110402000-110425000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:110408400-110423000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:110409400-110467800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:110411400-110464600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:110412200-110423600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:110412400-110421600	Strong transcription	HSMM	muscle
10	chr4:110412400-110424000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:110412400-110425400	Strong transcription	Primary T cells from cord blood	blood
12	chr4:110412400-110430200	Strong transcription	Liver	Liver
13	chr4:110412400-110443000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:110412400-110444600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr4:110412400-110465400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:110412400-110466200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:110412400-110470600	Strong transcription	Fetal Thymus	thymus
18	chr4:110412600-110423600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:110412600-110423800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:110412600-110424000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:110413200-110433800	Strong transcription	Dnd41	blood
22	chr4:110413400-110454800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:110413800-110421400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:110413800-110423800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr4:110414000-110423400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:110415000-110420000	Strong transcription	NH-A	brain
27	chr4:110415000-110422600	Strong transcription	GM12878-XiMat	blood
28	chr4:110415000-110422800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:110415000-110422800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:110415000-110424000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:110415200-110422800	Strong transcription	Placenta	Placenta
32	chr4:110415200-110423800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:110415400-110423000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:110415400-110423200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:110415400-110423600	Strong transcription	Fetal Intestine Large	intestine
36	chr4:110415400-110424000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:110415600-110420000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:110415600-110421200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:110415600-110421200	Strong transcription	NHDF-Ad	bronchial
40	chr4:110415600-110421400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:110415600-110422600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:110415600-110422800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:110415600-110423400	Strong transcription	Osteobl	bone
44	chr4:110415600-110423600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr4:110415600-110423600	Strong transcription	Fetal Lung	lung
46	chr4:110415600-110428600	Strong transcription	HUVEC	blood vessel
47	chr4:110415600-110429000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:110416200-110454800	Weak transcription	Fetal Heart	heart
49	chr4:110416400-110452200	Weak transcription	Fetal Brain Male	brain
50	chr4:110416800-110423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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