Variant report

Variant	rs59419813
Chromosome Location	chr7:138518399-138518400
allele	-/TAGA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138516402..138518442-chr7:138524817..138526738,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58568101	1.00[AMR][1000 genomes]
rs6948560	1.00[AMR][1000 genomes]
rs6956401	1.00[AMR][1000 genomes]
rs6956608	1.00[AMR][1000 genomes]
rs6976485	1.00[AMR][1000 genomes]
rs6978202	1.00[AMR][1000 genomes]
rs73730423	1.00[AMR][1000 genomes]
rs73730424	1.00[AMR][1000 genomes]
rs73730425	1.00[AMR][1000 genomes]
rs73730427	1.00[AMR][1000 genomes]
rs7790139	1.00[AMR][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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2357277	chr7:138518398-138518402	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138507200-138538200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:138512200-138518800	Weak transcription	Brain Germinal Matrix	brain
3	chr7:138512400-138522000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:138514200-138527000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:138514400-138519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:138514800-138518400	Weak transcription	Placenta	Placenta
7	chr7:138515600-138520400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:138515800-138554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:138516000-138522400	Weak transcription	Fetal Brain Male	brain
10	chr7:138516200-138519200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:138516400-138519200	Weak transcription	Fetal Stomach	stomach
12	chr7:138516600-138519200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:138516600-138519800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:138516600-138522400	Weak transcription	Fetal Intestine Small	intestine
15	chr7:138516600-138537400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:138516600-138541400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:138516800-138519200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:138517000-138519200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:138517000-138519200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:138517000-138519200	Weak transcription	Pancreas	Pancrea
21	chr7:138517000-138521000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:138517000-138522200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:138517000-138522400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:138517400-138521400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:138517400-138522400	Strong transcription	Fetal Brain Female	brain
26	chr7:138517400-138554200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:138517600-138519200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:138517800-138519400	Weak transcription	HSMM	muscle
29	chr7:138518000-138519600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:138518000-138521000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:138518000-138521000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:138518000-138521200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:138518000-138521200	Weak transcription	Fetal Kidney	kidney
34	chr7:138518000-138521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:138518000-138522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:138518000-138522400	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:138518000-138525000	Weak transcription	Hela-S3	cervix
38	chr7:138518000-138525600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:138518200-138519000	Weak transcription	HSMMtube	muscle
40	chr7:138518200-138534600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:138518200-138565800	Weak transcription	Duodenum Mucosa	Duodenum

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