Variant report

Variant	rs531571445
Chromosome Location	chr4:106393986-106393987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106393178..106395974-chr4:106403458..106406397,4	K562	blood:
2	chr4:106066586..106070319-chr4:106392729..106397085,7	MCF-7	breast:
3	chr4:105817842..105820618-chr4:106392954..106394791,2	MCF-7	breast:
4	chr4:106393672..106395391-chr4:106404396..106406000,2	MCF-7	breast:
5	chr4:106393678..106396634-chr4:106628055..106631625,3	K562	blood:
6	chr4:105893495..105895146-chr4:106393920..106395691,2	MCF-7	breast:
7	chr4:105848795..105851289-chr4:106392054..106394222,2	MCF-7	breast:
8	chr4:106393662..106395828-chr4:106816451..106818779,3	MCF-7	breast:
9	chr4:106066539..106069010-chr4:106392150..106395317,5	MCF-7	breast:
10	chr4:106393199..106396342-chr4:106628328..106631625,4	K562	blood:
11	chr4:106373864..106376614-chr4:106391989..106394662,2	MCF-7	breast:
12	chr4:106066580..106068131-chr4:106393738..106396130,2	K562	blood:
13	chr4:106046108..106050165-chr4:106391446..106394724,4	MCF-7	breast:
14	chr4:106064984..106068563-chr4:106391196..106395238,6	K562	blood:
15	chr4:106368037..106370559-chr4:106393297..106395424,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248373	Chromatin interaction
ENSG00000168743	Chromatin interaction
ENSG00000168769	Chromatin interaction
ENSG00000138780	Chromatin interaction
ENSG00000138777	Chromatin interaction
ENSG00000138785	Chromatin interaction
ENSG00000249264	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002228	chr4:106346206-106433381	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3421073	chr4:106393528-106396476	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 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	chr4:106377000-106394000	Weak transcription	Gastric	stomach
2	chr4:106381200-106394000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:106385000-106394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:106386400-106394200	Weak transcription	Spleen	Spleen
5	chr4:106388400-106394000	Weak transcription	Lung	lung
6	chr4:106388600-106394000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:106392200-106394200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr4:106392200-106394600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:106392400-106394000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:106392400-106394000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:106392400-106394000	Flanking Active TSS	NHEK	skin
12	chr4:106392600-106394000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:106392600-106394000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:106392600-106394000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr4:106392600-106394000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr4:106392600-106394000	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr4:106392600-106394000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr4:106392600-106394200	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr4:106392600-106394200	Flanking Active TSS	HUVEC	blood vessel
20	chr4:106392600-106394400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:106392600-106394400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:106392600-106394400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr4:106392600-106394400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:106392600-106394400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:106392600-106394400	Flanking Active TSS	Liver	Liver
26	chr4:106392600-106394400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:106392600-106394400	Flanking Active TSS	NHLF	lung
28	chr4:106392600-106394600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:106392600-106394600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr4:106392800-106394000	Enhancers	Primary B cells from peripheral blood	blood
31	chr4:106392800-106394000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr4:106392800-106394000	Flanking Active TSS	Hela-S3	cervix
33	chr4:106392800-106394000	Flanking Active TSS	NH-A	brain
34	chr4:106392800-106394200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:106392800-106394200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr4:106392800-106395600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:106393000-106394000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr4:106393000-106394000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr4:106393000-106394000	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr4:106393000-106394000	Flanking Active TSS	Fetal Heart	heart
41	chr4:106393000-106394000	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr4:106393000-106394000	Flanking Active TSS	Fetal Kidney	kidney
43	chr4:106393000-106394000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr4:106393000-106394000	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr4:106393000-106394200	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr4:106393000-106394200	Weak transcription	Small Intestine	intestine
47	chr4:106393000-106394200	Flanking Active TSS	Osteobl	bone
48	chr4:106393000-106394400	Flanking Active TSS	Fetal Lung	lung
49	chr4:106393000-106394600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr4:106393000-106395400	Active TSS	Fetal Muscle Trunk	muscle

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