Variant report

Variant	rs61745953
Chromosome Location	chr5:70872986-70872987
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	chr5:70860377..70862378-chr5:70872480..70874492,2	K562	blood:
2	chr5:70870301..70875589-chr5:70883224..70887581,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34529158	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35131626	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35169009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41393950	0.86[ASN][1000 genomes]
rs71624246	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71624261	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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
2	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3422117	chr5:70868025-70874173	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3328796	chr5:70868067-70873948	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70850000-70882200	Weak transcription	Psoas Muscle	Psoas
2	chr5:70856800-70882400	Weak transcription	NHEK	skin
3	chr5:70857000-70882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:70857800-70882200	Weak transcription	Brain Angular Gyrus	brain
5	chr5:70858600-70873800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:70858800-70882200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:70858800-70882200	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:70859200-70882400	Weak transcription	Right Ventricle	heart
9	chr5:70859400-70882200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:70861400-70882200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:70861400-70882400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:70861600-70882200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:70861600-70882200	Weak transcription	GM12878-XiMat	blood
14	chr5:70861600-70882400	Weak transcription	Primary B cells from cord blood	blood
15	chr5:70863200-70882400	Weak transcription	HUVEC	blood vessel
16	chr5:70864200-70882400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:70864200-70882400	Weak transcription	HSMM	muscle
18	chr5:70864400-70873800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:70864400-70881800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:70864400-70882000	Weak transcription	Liver	Liver
21	chr5:70864400-70882200	Weak transcription	Left Ventricle	heart
22	chr5:70864400-70882200	Weak transcription	Pancreas	Pancrea
23	chr5:70864400-70882400	Weak transcription	HSMMtube	muscle
24	chr5:70864600-70873000	Weak transcription	Adipose Nuclei	Adipose
25	chr5:70864600-70873800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:70864600-70873800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:70864600-70873800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:70864600-70873800	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:70864600-70873800	Weak transcription	Lung	lung
30	chr5:70864600-70877600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:70864600-70881800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:70864600-70882200	Weak transcription	Brain Anterior Caudate	brain
33	chr5:70864600-70882200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:70864600-70882200	Weak transcription	Brain Substantia Nigra	brain
35	chr5:70864600-70882200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:70864600-70882200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:70864600-70882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:70864600-70882400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:70864600-70882400	Weak transcription	Esophagus	oesophagus
40	chr5:70864600-70882400	Weak transcription	Fetal Intestine Large	intestine
41	chr5:70864600-70882400	Weak transcription	Thymus	Thymus
42	chr5:70864600-70882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:70864800-70873600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:70864800-70878200	Weak transcription	Brain Germinal Matrix	brain
45	chr5:70864800-70882000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:70864800-70882200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:70864800-70882200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:70864800-70882400	Weak transcription	A549	lung
49	chr5:70865000-70882000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:70865000-70882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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