Variant report

Variant	rs61162940
Chromosome Location	chr5:147130763-147130764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10064237	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11948325	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1549911	0.86[EUR][1000 genomes]
rs2116740	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7713108	0.86[EUR][1000 genomes]
rs7719181	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9688059	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs994025	0.88[AMR][1000 genomes];0.89[EUR][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	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147078600-147146000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:147113000-147131000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:147117400-147155800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:147122800-147133200	Enhancers	Brain Angular Gyrus	brain
5	chr5:147124400-147131200	Weak transcription	Fetal Lung	lung
6	chr5:147125800-147131600	Weak transcription	Brain Germinal Matrix	brain
7	chr5:147126600-147132200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:147126600-147132400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:147126800-147133000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:147127000-147132000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:147127200-147132000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:147127400-147131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:147127400-147131200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:147128000-147132200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:147128200-147132200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:147128200-147132400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:147128200-147133400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr5:147128200-147134200	Enhancers	Brain Anterior Caudate	brain
19	chr5:147129000-147132000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:147129000-147132600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:147129000-147134000	Enhancers	Brain Substantia Nigra	brain
22	chr5:147129000-147136000	Weak transcription	Thymus	Thymus
23	chr5:147129600-147132600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:147129600-147134600	Enhancers	Brain Hippocampus Middle	brain
25	chr5:147129800-147132800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:147130000-147130800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:147130200-147131400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:147130200-147132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:147130200-147132200	Enhancers	Colon Smooth Muscle	Colon
30	chr5:147130400-147131200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:147130400-147131400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:147130400-147132000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:147130400-147132000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:147130400-147132000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:147130600-147131000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:147130600-147131000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:147130600-147131000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:147130600-147131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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