Variant report

Variant	rs73741743
Chromosome Location	chr6:27462940-27462941
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27438796..27440667-chr6:27460849..27463507,2	K562	blood:
2	chr6:27457933..27459954-chr6:27461795..27463382,2	K562	blood:
3	chr6:27444179..27448029-chr6:27462358..27468433,6	K562	blood:
4	chr6:27461978..27463563-chr6:27744301..27746788,2	K562	blood:
5	chr6:27462160..27465243-chr6:27483150..27486620,3	K562	blood:
6	chr6:27262330..27264270-chr6:27461597..27464387,2	K562	blood:
7	chr6:27447854..27450536-chr6:27461434..27464293,2	K562	blood:
8	chr6:27457396..27459337-chr6:27460675..27465171,4	K562	blood:
9	chr6:27461978..27464683-chr6:27744618..27746788,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096654	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16867813	1.00[AFR][1000 genomes]
rs58163963	0.84[AFR][1000 genomes]
rs58505304	0.84[AFR][1000 genomes]
rs60820603	0.84[AFR][1000 genomes]
rs73741744	1.00[AFR][1000 genomes]
rs73741745	1.00[AFR][1000 genomes]
rs73741749	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27462000-27463200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27462400-27463000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:27462400-27463200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:27462400-27463800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:27462400-27464200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr6:27462600-27463000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:27462600-27463000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr6:27462600-27463000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:27462600-27463000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:27462600-27463000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:27462600-27463000	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr6:27462600-27463000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
13	chr6:27462600-27463000	Flanking Active TSS	K562	blood
14	chr6:27462600-27463000	Flanking Active TSS	NHEK	skin
15	chr6:27462600-27463200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:27462600-27463200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:27462600-27463200	Active TSS	Ovary	ovary
18	chr6:27462600-27463400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:27462600-27463400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:27462600-27463400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:27462600-27463600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:27462600-27463600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:27462600-27463600	Active TSS	GM12878-XiMat	blood
24	chr6:27462600-27463800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:27462600-27463800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:27462600-27463800	Active TSS	Right Atrium	heart
27	chr6:27462600-27463800	Active TSS	Hela-S3	cervix
28	chr6:27462600-27464000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr6:27462600-27464000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:27462600-27464000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:27462600-27464000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:27462600-27464000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:27462600-27464000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:27462600-27464000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:27462600-27464000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:27462600-27464000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:27462600-27464000	Active TSS	NHDF-Ad	bronchial
38	chr6:27462600-27464000	Active TSS	NHLF	lung
39	chr6:27462600-27464000	Active TSS	Osteobl	bone
40	chr6:27462600-27464200	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr6:27462600-27464200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr6:27462600-27464200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:27462600-27464200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:27462800-27463000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr6:27462800-27463000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
46	chr6:27462800-27463000	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:27462800-27463000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:27462800-27463000	Bivalent Enhancer	Fetal Brain Male	brain
49	chr6:27462800-27463000	Bivalent Enhancer	Fetal Lung	lung
50	chr6:27462800-27463000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

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