Variant report

Variant	rs60569686
Chromosome Location	chr13:49744296-49744297
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	chr13:49738507..49740067-chr13:49743815..49746234,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2987533	0.84[AMR][1000 genomes]
rs736222	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49706000-49748200	Weak transcription	K562	blood
3	chr13:49721800-49751400	Weak transcription	NH-A	brain
4	chr13:49722800-49752800	Weak transcription	Psoas Muscle	Psoas
5	chr13:49724400-49765000	Weak transcription	A549	lung
6	chr13:49736400-49760000	Weak transcription	NHLF	lung
7	chr13:49737600-49744400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:49737600-49747000	Strong transcription	HepG2	liver
9	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
11	chr13:49738200-49746000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr13:49738400-49745000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr13:49738400-49746200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:49738400-49746600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:49738400-49750800	Weak transcription	Brain Angular Gyrus	brain
16	chr13:49738400-49754600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:49738400-49758000	Weak transcription	Fetal Heart	heart
18	chr13:49738400-49762000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr13:49738400-49785200	Strong transcription	Liver	Liver
20	chr13:49738600-49748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr13:49738600-49757200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:49738600-49761400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr13:49738600-49785000	Strong transcription	Dnd41	blood
24	chr13:49738800-49761800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:49739000-49744400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr13:49739000-49750800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr13:49739000-49752200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr13:49739000-49761800	Weak transcription	Brain Hippocampus Middle	brain
29	chr13:49739000-49768200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:49739000-49774200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:49739200-49745400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr13:49739200-49746400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr13:49739200-49748000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr13:49739200-49749400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr13:49739200-49751000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:49739200-49752400	Weak transcription	Colon Smooth Muscle	Colon
37	chr13:49739200-49755600	Strong transcription	Primary T cells from cord blood	blood
38	chr13:49739600-49745200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr13:49739600-49747000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:49739800-49744400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:49739800-49744400	Strong transcription	Fetal Intestine Large	intestine
43	chr13:49739800-49747600	Weak transcription	Fetal Kidney	kidney
44	chr13:49739800-49755400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:49740000-49750400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr13:49740000-49752200	Weak transcription	Fetal Brain Male	brain
47	chr13:49740000-49752200	Weak transcription	Right Ventricle	heart
48	chr13:49740000-49757200	Weak transcription	HMEC	breast
49	chr13:49740000-49761600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr13:49740200-49745600	Weak transcription	Fetal Lung	lung

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