Variant report

Variant	rs4235717
Chromosome Location	chr5:79509019-79509020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79508706..79511076-chr5:79549297..79550935,2	K562	blood:
2	chr5:79508737..79511174-chr5:79518884..79521695,2	K562	blood:
3	chr5:79508171..79510713-chr5:79510900..79513026,2	MCF-7	breast:
4	chr5:79507637..79510156-chr5:79513489..79515447,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10036776	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10055268	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061215	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16877612	0.99[ASN][1000 genomes]
rs4703805	0.92[ASN][1000 genomes]
rs60316437	0.92[ASN][1000 genomes]
rs6879270	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79490800-79513800	Weak transcription	Fetal Kidney	kidney
2	chr5:79497400-79515000	Weak transcription	Esophagus	oesophagus
3	chr5:79498600-79520800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:79498600-79521200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:79498800-79509800	Enhancers	Brain Hippocampus Middle	brain
6	chr5:79498800-79514000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:79499000-79509200	Weak transcription	Spleen	Spleen
8	chr5:79499000-79513200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:79499000-79517800	Weak transcription	Aorta	Aorta
10	chr5:79500000-79509200	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:79500000-79509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:79500000-79537600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:79500200-79512000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:79500400-79510400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:79501000-79509200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:79501000-79510600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr5:79501000-79512000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:79501000-79513200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:79501400-79509200	Weak transcription	Primary B cells from cord blood	blood
20	chr5:79501400-79509200	Weak transcription	Right Atrium	heart
21	chr5:79501400-79509400	Weak transcription	NHEK	skin
22	chr5:79501400-79515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:79501600-79513200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:79501600-79516800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:79502000-79516200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:79502400-79513200	Weak transcription	Fetal Lung	lung
27	chr5:79502600-79509200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:79502600-79515200	Weak transcription	HSMMtube	muscle
29	chr5:79502800-79509200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:79502800-79511400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:79502800-79513200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:79503200-79510800	Weak transcription	Placenta	Placenta
33	chr5:79503600-79513000	Weak transcription	Osteobl	bone
34	chr5:79504000-79513000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:79504200-79509200	Weak transcription	Ovary	ovary
36	chr5:79504200-79509400	Enhancers	Fetal Heart	heart
37	chr5:79504600-79512000	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:79505000-79509200	Weak transcription	Psoas Muscle	Psoas
39	chr5:79505200-79509600	Enhancers	Thymus	Thymus
40	chr5:79505200-79513000	Weak transcription	Fetal Brain Male	brain
41	chr5:79505800-79512200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:79505800-79513200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:79506400-79509200	Weak transcription	HMEC	breast
44	chr5:79506400-79509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:79506400-79513200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:79506400-79516400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:79506600-79509600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr5:79506600-79509800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:79506600-79513200	Weak transcription	Stomach Mucosa	stomach
50	chr5:79506600-79513400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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