Variant report

Variant	rs5030544
Chromosome Location	chr4:110620930-110620931
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:110620489-110621292	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:110619077..110621790-chr4:110741632..110744275,3	K562	blood:
2	chr4:110614201..110615730-chr4:110619732..110621357,2	K562	blood:
3	chr4:110620445..110623344-chr4:110627846..110630459,3	K562	blood:
4	chr4:110354439..110356440-chr4:110619131..110621286,2	K562	blood:
5	chr4:110609534..110611463-chr4:110619713..110622437,2	K562	blood:
6	chr4:110618563..110622220-chr4:110622548..110625878,6	K562	blood:
7	chr4:110611670..110613762-chr4:110619125..110621842,2	K562	blood:

No data

Variant related genes	Relation type
CASP6	TF binding region
ENSG00000138802	Chromatin interaction
ENSG00000247950	Chromatin interaction
ENSG00000273447	Chromatin interaction
ENSG00000138794	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17040619	1.00[AMR][1000 genomes]
rs17040755	1.00[AMR][1000 genomes]
rs36038539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5030579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5030585	1.00[AMR][1000 genomes]
rs7441380	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv595142	chr4:110609481-110656730	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr4:110572600-110623200	Weak transcription	Esophagus	oesophagus
2	chr4:110589600-110623200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:110598800-110622800	Weak transcription	NHEK	skin
4	chr4:110600800-110622600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:110601800-110622800	Weak transcription	Right Atrium	heart
6	chr4:110605000-110622800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:110605600-110622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:110605800-110622800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:110606400-110622800	Weak transcription	Hela-S3	cervix
10	chr4:110607200-110622800	Weak transcription	Fetal Brain Male	brain
11	chr4:110607800-110623200	Weak transcription	Brain Angular Gyrus	brain
12	chr4:110609000-110622800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:110609600-110623000	Weak transcription	A549	lung
14	chr4:110609800-110623200	Weak transcription	Psoas Muscle	Psoas
15	chr4:110611000-110623200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:110611200-110621600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:110611200-110623800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:110611600-110622600	Weak transcription	Fetal Heart	heart
19	chr4:110611600-110623200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:110612200-110622800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:110612200-110623000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:110612400-110622800	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:110613000-110623200	Weak transcription	Brain Anterior Caudate	brain
24	chr4:110613200-110622400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:110613600-110622800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:110613800-110622800	Weak transcription	NHDF-Ad	bronchial
27	chr4:110614200-110622600	Weak transcription	Brain Germinal Matrix	brain
28	chr4:110614200-110622800	Weak transcription	Right Ventricle	heart
29	chr4:110614200-110622800	Weak transcription	HMEC	breast
30	chr4:110614200-110623000	Weak transcription	NHLF	lung
31	chr4:110614200-110623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:110614400-110622800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:110614400-110622800	Weak transcription	Primary B cells from cord blood	blood
34	chr4:110614400-110622800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:110614400-110622800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:110614400-110622800	Weak transcription	Ovary	ovary
37	chr4:110614400-110622800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:110614400-110623000	Weak transcription	NH-A	brain
39	chr4:110614600-110622600	Weak transcription	Colon Smooth Muscle	Colon
40	chr4:110614600-110622800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr4:110615400-110622800	Weak transcription	Placenta	Placenta
42	chr4:110615400-110623200	Weak transcription	Aorta	Aorta
43	chr4:110615600-110622600	Weak transcription	Spleen	Spleen
44	chr4:110615600-110623000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:110615800-110621600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:110615800-110622600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:110615800-110622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:110615800-110622600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:110615800-110622800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:110615800-110623000	Weak transcription	Fetal Kidney	kidney

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