Variant report

Variant	rs55712195
Chromosome Location	chr4:119625806-119625807
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	chr4:119625262..119626792-chr4:119629864..119631534,2	K562	blood:
2	chr4:119606397..119608981-chr4:119623565..119625809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145388	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56683591	1.00[EUR][1000 genomes]
rs59168173	1.00[EUR][1000 genomes]
rs61393887	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905464	1.00[EUR][1000 genomes]
rs72907289	1.00[EUR][1000 genomes]
rs7681126	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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr4:119607000-119644800	Weak transcription	Small Intestine	intestine
2	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:119608600-119635200	Strong transcription	Fetal Thymus	thymus
6	chr4:119608600-119635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
8	chr4:119608800-119635000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:119609000-119628200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:119609000-119633200	Strong transcription	Placenta	Placenta
11	chr4:119609000-119633400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:119609000-119633400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:119609000-119633800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:119609000-119634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:119609000-119634800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:119609000-119635000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:119609000-119635000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr4:119609000-119636000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:119609000-119636200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:119609200-119633400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:119609200-119634400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr4:119609200-119634800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:119609200-119635600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:119609200-119635600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:119609200-119635800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:119609200-119636200	Strong transcription	Adipose Nuclei	Adipose
27	chr4:119609200-119648600	Weak transcription	Fetal Heart	heart
28	chr4:119609400-119633400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:119609400-119635600	Strong transcription	Dnd41	blood
30	chr4:119610200-119628000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:119610400-119628400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:119610400-119628600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:119612000-119628000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:119613000-119634400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:119614000-119627000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:119615400-119633200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:119615600-119628400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:119615600-119633200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:119616600-119626000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:119619600-119628400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:119620000-119660200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:119621000-119629000	Strong transcription	Fetal Lung	lung
43	chr4:119621600-119632600	Strong transcription	Fetal Muscle Leg	muscle
44	chr4:119621800-119628200	Strong transcription	NHDF-Ad	bronchial
45	chr4:119621800-119634800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:119622000-119635800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr4:119622200-119627800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr4:119622400-119629800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:119622400-119630200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:119622800-119627200	Weak transcription	GM12878-XiMat	blood

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