Variant report

Variant	rs1986799
Chromosome Location	chr4:106072995-106072996
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	chr4:105812145..105831361-chr4:106062414..106073665,101	MCF-7	breast:
2	chr4:105981331..105982913-chr4:106070883..106073179,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248373	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17035323	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1986800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4698934	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4699160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67776122	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72665913	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72665914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72665916	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72665920	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72665924	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72665926	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72665928	0.89[EUR][1000 genomes]
rs72665931	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72665935	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7655049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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:72 , 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	chr4:106069600-106073200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:106069600-106102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:106069800-106075600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:106069800-106075800	Weak transcription	Aorta	Aorta
8	chr4:106069800-106080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:106069800-106080200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:106069800-106101000	Weak transcription	HSMM	muscle
11	chr4:106069800-106101800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:106070200-106076000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:106070200-106076400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:106070200-106076800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:106070200-106080600	Weak transcription	Fetal Stomach	stomach
16	chr4:106070400-106107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
18	chr4:106070600-106080000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:106070800-106073200	Enhancers	Ovary	ovary
20	chr4:106071000-106076400	Weak transcription	Primary T cells from cord blood	blood
21	chr4:106071000-106080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:106071000-106100800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:106071200-106073000	Enhancers	Psoas Muscle	Psoas
24	chr4:106071200-106074400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:106071200-106075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:106071200-106075800	Weak transcription	HMEC	breast
27	chr4:106071200-106076200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:106071200-106076200	Weak transcription	NHDF-Ad	bronchial
29	chr4:106071200-106077600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr4:106071200-106079400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr4:106071200-106083400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:106071400-106073800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:106071600-106077800	Weak transcription	Fetal Kidney	kidney
34	chr4:106071800-106074800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:106071800-106075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:106071800-106075200	Weak transcription	NHEK	skin
37	chr4:106071800-106075800	Weak transcription	Right Atrium	heart
38	chr4:106071800-106076400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:106071800-106079000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:106071800-106080000	Weak transcription	Fetal Intestine Small	intestine
41	chr4:106071800-106082400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:106071800-106084400	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:106072000-106074800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:106072000-106075600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:106072000-106075800	Weak transcription	Left Ventricle	heart
46	chr4:106072000-106076400	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:106072000-106076600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr4:106072000-106076600	Weak transcription	Small Intestine	intestine
49	chr4:106072000-106077400	Weak transcription	Brain Germinal Matrix	brain
50	chr4:106072000-106079400	Weak transcription	Primary B cells from cord blood	blood

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