Variant report

Variant	rs5030565
Chromosome Location	chr4:110617303-110617304
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	chr4:110614175..110617352-chr4:110621711..110624911,3	K562	blood:

Variant related genes	Relation type
ENSG00000138794	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs5030522	0.83[AMR][1000 genomes]
rs5030525	0.83[AMR][1000 genomes]
rs5030527	0.83[AMR][1000 genomes]
rs5030561	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5030567	1.00[YRI][hapmap];1.00[AFR][1000 genomes];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	chr4:110601800-110622800	Weak transcription	Right Atrium	heart
6	chr4:110602600-110620000	Weak transcription	Small Intestine	intestine
7	chr4:110605000-110622800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:110605200-110619800	Strong transcription	Dnd41	blood
9	chr4:110605600-110619800	Strong transcription	Fetal Thymus	thymus
10	chr4:110605600-110622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:110605800-110619400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:110605800-110622800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:110606400-110622800	Weak transcription	Hela-S3	cervix
14	chr4:110607200-110622800	Weak transcription	Fetal Brain Male	brain
15	chr4:110607400-110618600	Strong transcription	Fetal Intestine Small	intestine
16	chr4:110607600-110619000	Strong transcription	Fetal Intestine Large	intestine
17	chr4:110607800-110623200	Weak transcription	Brain Angular Gyrus	brain
18	chr4:110608200-110617800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:110608400-110618800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr4:110608600-110619400	Strong transcription	Liver	Liver
21	chr4:110608800-110619200	Strong transcription	Adipose Nuclei	Adipose
22	chr4:110609000-110622800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:110609600-110623000	Weak transcription	A549	lung
24	chr4:110609800-110619600	Weak transcription	HepG2	liver
25	chr4:110609800-110623200	Weak transcription	Psoas Muscle	Psoas
26	chr4:110610000-110619400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:110610200-110617400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:110610200-110619400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:110610200-110619400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr4:110610200-110619400	Strong transcription	Fetal Muscle Leg	muscle
31	chr4:110610400-110618800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr4:110611000-110619600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr4:110611000-110623200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:110611200-110621600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:110611200-110623800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:110611400-110619400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr4:110611400-110619400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:110611400-110619800	Strong transcription	Fetal Lung	lung
39	chr4:110611600-110622600	Weak transcription	Fetal Heart	heart
40	chr4:110611600-110623200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:110611800-110619600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:110612200-110622800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:110612200-110623000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:110612400-110622800	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:110612800-110617400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:110613000-110619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:110613000-110623200	Weak transcription	Brain Anterior Caudate	brain
48	chr4:110613200-110619000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:110613200-110619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:110613200-110619800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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