Variant report

Variant	rs2214408
Chromosome Location	chr4:106079334-106079335
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	chr4:105886771..105889434-chr4:106077955..106080368,2	MCF-7	breast:
2	chr4:106077302..106081599-chr4:106085488..106089334,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248242	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12499227	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12506248	1.00[AFR][1000 genomes]
rs12507519	1.00[AFR][1000 genomes]
rs12508009	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12511847	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1490581	1.00[AFR][1000 genomes]
rs17319679	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17430132	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17430146	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17430167	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17508289	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2214407	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2866773	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4698933	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4699158	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4699161	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4699166	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59444136	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7441095	1.00[AMR][1000 genomes];0.96[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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106069400-106083200	Weak transcription	Pancreas	Pancrea
2	chr4:106069400-106087600	Weak transcription	Lung	lung
3	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
4	chr4:106069600-106102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:106069800-106080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:106069800-106080200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:106069800-106101000	Weak transcription	HSMM	muscle
8	chr4:106069800-106101800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:106070200-106080600	Weak transcription	Fetal Stomach	stomach
10	chr4:106070400-106107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
12	chr4:106070600-106080000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:106071000-106080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:106071000-106100800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:106071200-106079400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:106071200-106083400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:106071800-106080000	Weak transcription	Fetal Intestine Small	intestine
18	chr4:106071800-106082400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:106071800-106084400	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:106072000-106079400	Weak transcription	Primary B cells from cord blood	blood
21	chr4:106072000-106080200	Weak transcription	Fetal Intestine Large	intestine
22	chr4:106072000-106082600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:106072000-106083200	Weak transcription	Brain Substantia Nigra	brain
24	chr4:106072000-106083200	Weak transcription	Fetal Brain Female	brain
25	chr4:106072000-106083400	Weak transcription	HSMMtube	muscle
26	chr4:106072400-106080200	Weak transcription	Fetal Brain Male	brain
27	chr4:106072600-106083000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:106072600-106100600	Weak transcription	Adipose Nuclei	Adipose
29	chr4:106073200-106080000	Weak transcription	Ovary	ovary
30	chr4:106075400-106080000	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:106076000-106084400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:106076200-106080000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:106076200-106080000	Weak transcription	Left Ventricle	heart
34	chr4:106076200-106082000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:106076200-106083200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:106076200-106089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:106076200-106092800	Weak transcription	Psoas Muscle	Psoas
38	chr4:106076200-106093000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:106076600-106079600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:106076800-106080200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:106076800-106082800	Weak transcription	Primary T cells from cord blood	blood
42	chr4:106076800-106083200	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:106077000-106079400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:106077000-106080000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:106077000-106100800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:106077000-106112000	Weak transcription	Aorta	Aorta
47	chr4:106077200-106082800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:106077200-106083000	Weak transcription	Fetal Heart	heart
49	chr4:106077600-106083200	Weak transcription	Brain Germinal Matrix	brain
50	chr4:106078000-106080200	Weak transcription	NHEK	skin

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