Variant report

Variant	rs2214407
Chromosome Location	chr4:106093548-106093549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106067365..106069843-chr4:106092811..106094718,3	MCF-7	breast:
2	chr4:106088148..106089757-chr4:106092188..106093768,2	MCF-7	breast:
3	chr4:106048208..106050465-chr4:106092982..106095215,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168769	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12499227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12505746	0.86[EUR][1000 genomes]
rs12508009	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12511847	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17319679	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17430132	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17430146	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17430167	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17508289	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2214408	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2866773	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4235413	0.84[EUR][1000 genomes]
rs4698933	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4699158	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4699161	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4699164	1.00[CEU][hapmap]
rs4699166	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59444136	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7441095	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7698522	1.00[CEU][hapmap];0.84[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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
2	chr4:106069600-106102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:106069800-106101000	Weak transcription	HSMM	muscle
4	chr4:106069800-106101800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:106070400-106107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
7	chr4:106071000-106100800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:106072600-106100600	Weak transcription	Adipose Nuclei	Adipose
9	chr4:106077000-106100800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:106077000-106112000	Weak transcription	Aorta	Aorta
11	chr4:106078000-106112800	Weak transcription	Fetal Kidney	kidney
12	chr4:106080600-106101800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:106080600-106102800	Weak transcription	NHEK	skin
14	chr4:106080600-106105800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:106080600-106107800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:106080800-106095200	Weak transcription	Fetal Intestine Large	intestine
17	chr4:106083600-106097200	ZNF genes & repeats	GM12878-XiMat	blood
18	chr4:106083600-106100800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:106083600-106100800	Weak transcription	Right Ventricle	heart
20	chr4:106083600-106109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:106083800-106095600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:106083800-106095800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:106083800-106100400	Weak transcription	Stomach Mucosa	stomach
24	chr4:106083800-106104800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:106083800-106111400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:106084000-106105000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:106084800-106127400	Weak transcription	Brain Germinal Matrix	brain
28	chr4:106085200-106093600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:106085600-106112800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:106086000-106105600	Weak transcription	Fetal Lung	lung
31	chr4:106089600-106100800	Weak transcription	Small Intestine	intestine
32	chr4:106090000-106095400	Weak transcription	Fetal Intestine Small	intestine
33	chr4:106090400-106105600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:106090600-106094000	Enhancers	HepG2	liver
35	chr4:106090600-106107000	Weak transcription	NH-A	brain
36	chr4:106091400-106094400	Strong transcription	Primary T cells from cord blood	blood
37	chr4:106091400-106100600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:106091600-106100800	Weak transcription	Ovary	ovary
39	chr4:106091800-106094800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:106092000-106105800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:106092000-106110600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:106092400-106095400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:106092600-106093800	Enhancers	Liver	Liver
44	chr4:106092600-106095800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:106092800-106093600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:106092800-106094000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr4:106093000-106096600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:106093200-106093600	Weak transcription	Primary B cells from cord blood	blood
49	chr4:106093200-106093800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:106093200-106094000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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