Variant report

Variant	rs59726717
Chromosome Location	chr4:48518723-48518724
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	chr4:48510100..48513571-chr4:48516214..48518861,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs60469006	1.00[AFR][1000 genomes]
rs6810558	1.00[AFR][1000 genomes]
rs73814760	1.00[AFR][1000 genomes]
rs73814777	1.00[AFR][1000 genomes]
rs73814778	1.00[AFR][1000 genomes]
rs73814779	1.00[AFR][1000 genomes]
rs73814780	1.00[AFR][1000 genomes]
rs73814783	1.00[AFR][1000 genomes]
rs7677979	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr4:48493600-48523000	Weak transcription	Right Ventricle	heart
2	chr4:48495400-48523000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:48497000-48521600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:48498200-48539600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:48499400-48527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:48499600-48581400	Strong transcription	Dnd41	blood
13	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:48501000-48538800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:48501600-48523000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:48503400-48520400	Weak transcription	NHLF	lung
20	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:48504600-48534400	Strong transcription	Liver	Liver
22	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:48505400-48538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:48505400-48540000	Strong transcription	HSMM	muscle
25	chr4:48506000-48538800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
27	chr4:48507400-48536200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:48507600-48519200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr4:48507600-48568600	Strong transcription	Primary T cells from cord blood	blood
30	chr4:48507800-48539400	Strong transcription	Primary B cells from cord blood	blood
31	chr4:48508800-48538800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr4:48509000-48519000	Strong transcription	Colonic Mucosa	Colon
33	chr4:48509400-48540000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:48510600-48525000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:48510600-48538800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:48512200-48523000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:48512200-48523200	Weak transcription	Fetal Heart	heart
38	chr4:48512200-48525600	Strong transcription	Brain Anterior Caudate	brain
39	chr4:48512200-48542400	Weak transcription	Stomach Mucosa	stomach
40	chr4:48512200-48545000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:48512400-48520400	Weak transcription	Fetal Intestine Small	intestine
42	chr4:48512400-48520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:48512400-48520600	Weak transcription	Spleen	Spleen
44	chr4:48512400-48523000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:48512400-48533400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:48512600-48520400	Weak transcription	Fetal Stomach	stomach
47	chr4:48513000-48520400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:48513000-48520400	Weak transcription	Pancreas	Pancrea
49	chr4:48513000-48522000	Weak transcription	Small Intestine	intestine
50	chr4:48513400-48520400	Weak transcription	Aorta	Aorta

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