Variant report

Variant	rs59520729
Chromosome Location	chr4:82367440-82367441
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	chr4:82361014..82362993-chr4:82366245..82367851,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10010385	0.92[AFR][1000 genomes]
rs1444891	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1444893	0.90[ASN][1000 genomes]
rs1975508	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2019101	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28560455	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2868215	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56087183	0.90[ASN][1000 genomes]
rs59588994	1.00[ASN][1000 genomes]
rs62303600	0.90[ASN][1000 genomes]
rs6535250	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6535251	0.90[ASN][1000 genomes]
rs7670580	0.90[ASN][1000 genomes]
rs7687318	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82345600-82380600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:82345800-82367600	Strong transcription	Liver	Liver
3	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:82346200-82375800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr4:82346200-82381600	Strong transcription	Fetal Thymus	thymus
6	chr4:82346400-82368000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:82346600-82380800	Strong transcription	Adipose Nuclei	Adipose
8	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
9	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:82346800-82382400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:82347000-82375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:82347200-82378800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:82349000-82367800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:82349000-82368800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:82349000-82374800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:82349000-82385200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:82349200-82368000	Weak transcription	Brain Germinal Matrix	brain
18	chr4:82351000-82377600	Weak transcription	Right Ventricle	heart
19	chr4:82351800-82369200	Weak transcription	Esophagus	oesophagus
20	chr4:82351800-82375000	Weak transcription	Pancreas	Pancrea
21	chr4:82351800-82382800	Weak transcription	Spleen	Spleen
22	chr4:82352200-82369000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:82352400-82390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:82353800-82375200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:82354200-82390800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:82354600-82369000	Weak transcription	Fetal Heart	heart
27	chr4:82357400-82372800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:82357800-82375400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:82358600-82370000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:82358600-82372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:82358600-82374000	Strong transcription	Primary B cells from cord blood	blood
32	chr4:82358800-82367600	Strong transcription	Fetal Intestine Large	intestine
33	chr4:82358800-82380600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:82359000-82369600	Strong transcription	Placenta	Placenta
35	chr4:82359000-82370800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:82359000-82375200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:82359200-82369800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr4:82359200-82370600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:82359200-82375600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:82359200-82381000	Strong transcription	Primary T cells from cord blood	blood
41	chr4:82359800-82371200	Strong transcription	Brain Anterior Caudate	brain
42	chr4:82360000-82374400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr4:82360400-82370000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr4:82360400-82370800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr4:82360600-82369600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr4:82360800-82369200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:82361200-82371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:82361200-82376400	Weak transcription	Aorta	Aorta
49	chr4:82361200-82382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:82361400-82386600	Weak transcription	Fetal Kidney	kidney

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