Variant report

Variant	rs5030579
Chromosome Location	chr4:110614342-110614343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110614201..110615730-chr4:110619732..110621357,2	K562	blood:
2	chr4:110614175..110617352-chr4:110621711..110624911,3	K562	blood:

Variant related genes	Relation type
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]
rs5030544	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:126 , 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	chr4:110601200-110615800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:110601800-110622800	Weak transcription	Right Atrium	heart
7	chr4:110602600-110620000	Weak transcription	Small Intestine	intestine
8	chr4:110605000-110622800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:110605200-110619800	Strong transcription	Dnd41	blood
10	chr4:110605400-110616000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:110605600-110616000	Strong transcription	Primary hematopoietic stem cells	blood
12	chr4:110605600-110619800	Strong transcription	Fetal Thymus	thymus
13	chr4:110605600-110622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:110605800-110619400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:110605800-110622800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:110606000-110616000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:110606400-110622800	Weak transcription	Hela-S3	cervix
18	chr4:110607200-110622800	Weak transcription	Fetal Brain Male	brain
19	chr4:110607400-110618600	Strong transcription	Fetal Intestine Small	intestine
20	chr4:110607600-110619000	Strong transcription	Fetal Intestine Large	intestine
21	chr4:110607800-110623200	Weak transcription	Brain Angular Gyrus	brain
22	chr4:110608200-110617800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:110608400-110616000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:110608400-110618800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr4:110608600-110619400	Strong transcription	Liver	Liver
26	chr4:110608800-110619200	Strong transcription	Adipose Nuclei	Adipose
27	chr4:110609000-110615800	Strong transcription	HUVEC	blood vessel
28	chr4:110609000-110616200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:110609000-110622800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:110609200-110615200	Weak transcription	Stomach Mucosa	stomach
31	chr4:110609200-110616000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:110609600-110623000	Weak transcription	A549	lung
33	chr4:110609800-110619600	Weak transcription	HepG2	liver
34	chr4:110609800-110623200	Weak transcription	Psoas Muscle	Psoas
35	chr4:110610000-110619400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:110610200-110614400	Strong transcription	Left Ventricle	heart
37	chr4:110610200-110616200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:110610200-110617200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:110610200-110617200	Strong transcription	Fetal Stomach	stomach
40	chr4:110610200-110617400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:110610200-110619400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:110610200-110619400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr4:110610200-110619400	Strong transcription	Fetal Muscle Leg	muscle
44	chr4:110610400-110614800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:110610400-110616000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:110610400-110618800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr4:110610600-110614600	Strong transcription	Colon Smooth Muscle	Colon
48	chr4:110610600-110615600	Strong transcription	Thymus	Thymus
49	chr4:110611000-110619600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr4:110611000-110623200	Weak transcription	Brain Cingulate Gyrus	brain

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