Variant report

Variant	rs62427129
Chromosome Location	chr6:144327211-144327212
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144274204..144276778-chr6:144326473..144328934,2	K562	blood:
2	chr6:143830342..143833743-chr6:144326901..144329456,3	K562	blood:
3	chr6:144318653..144320908-chr6:144327115..144329301,2	MCF-7	breast:
4	chr6:144162948..144166199-chr6:144325900..144330312,6	K562	blood:
5	chr6:144321371..144324041-chr6:144325680..144328312,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B5-2	chr6:144325474-144329867	NONHSAT115373

No data

Variant related genes	Relation type
ENSG00000135521	Chromatin interaction
ENSG00000001036	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2273323	1.00[AFR][1000 genomes]
rs34554103	0.86[AFR][1000 genomes]
rs35131977	0.86[AFR][1000 genomes]
rs35283947	0.86[AFR][1000 genomes]
rs62427124	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62427126	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62427127	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62427128	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs727612	0.86[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	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5516	chr6:144300321-144345812	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144305000-144327400	Weak transcription	Fetal Kidney	kidney
2	chr6:144305000-144327400	Weak transcription	Fetal Lung	lung
3	chr6:144306600-144327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:144309000-144327400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:144312800-144327400	Weak transcription	Left Ventricle	heart
6	chr6:144317600-144327400	Weak transcription	HMEC	breast
7	chr6:144321800-144327400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:144322000-144327400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:144322200-144327400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:144322800-144327600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:144323000-144327400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:144323200-144327400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:144323600-144327400	Weak transcription	Adipose Nuclei	Adipose
14	chr6:144324400-144327600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:144324600-144327400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:144324600-144327400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:144325200-144330000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:144325600-144327400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:144326000-144330000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:144326200-144329600	Active TSS	Fetal Muscle Leg	muscle
21	chr6:144326200-144330000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:144326600-144330200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:144326800-144327400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:144326800-144327400	Weak transcription	Fetal Brain Male	brain
25	chr6:144327200-144327400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:144327200-144327400	Enhancers	Fetal Intestine Small	intestine
27	chr6:144327200-144327400	Enhancers	Hela-S3	cervix
28	chr6:144327200-144327400	Enhancers	HUVEC	blood vessel
29	chr6:144327200-144327400	Active TSS	NH-A	brain
30	chr6:144327200-144327400	Active TSS	Osteobl	bone
31	chr6:144327200-144327800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:144327200-144328000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:144327200-144329800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:144327200-144329800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr6:144327200-144329800	Active TSS	Fetal Intestine Large	intestine
36	chr6:144327200-144329800	Active TSS	Fetal Muscle Trunk	muscle
37	chr6:144327200-144329800	Active TSS	Fetal Stomach	stomach
38	chr6:144327200-144329800	Active TSS	K562	blood
39	chr6:144327200-144329800	Active TSS	NHLF	lung
40	chr6:144327200-144330000	Active TSS	Stomach Smooth Muscle	stomach
41	chr6:144327200-144330000	Active TSS	NHDF-Ad	bronchial

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