Variant report

Variant	rs73738713
Chromosome Location	chr6:27248128-27248129
allele	A/G/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	chr6:27217218..27219309-chr6:27247377..27248897,2	K562	blood:
2	chr6:27113602..27116468-chr6:27244782..27248361,3	K562	blood:
3	chr6:27203220..27205939-chr6:27245296..27248944,5	K562	blood:
4	chr6:27245578..27248207-chr6:27858753..27860256,2	K562	blood:
5	chr6:27246057..27248417-chr6:27262936..27265446,2	MCF-7	breast:
6	chr6:27202802..27205636-chr6:27246312..27248576,2	K562	blood:
7	chr6:27246689..27248235-chr6:27471061..27472796,2	K562	blood:
8	chr6:27218331..27220878-chr6:27246243..27248921,3	MCF-7	breast:
9	chr6:27113602..27116403-chr6:27246388..27248361,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184825	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000265565	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10484392	1.00[AMR][1000 genomes]
rs10484394	1.00[AMR][1000 genomes]
rs1102566	1.00[AMR][1000 genomes]
rs1102568	1.00[AMR][1000 genomes]
rs11753245	1.00[AMR][1000 genomes]
rs11753378	1.00[AMR][1000 genomes]
rs11753580	1.00[AMR][1000 genomes]
rs11755519	1.00[AMR][1000 genomes]
rs11755651	1.00[AMR][1000 genomes]
rs11755813	1.00[AMR][1000 genomes]
rs11756304	1.00[AMR][1000 genomes]
rs11757963	1.00[AMR][1000 genomes]
rs11759167	1.00[AMR][1000 genomes]
rs11759771	1.00[AMR][1000 genomes]
rs16894241	1.00[AMR][1000 genomes]
rs16894520	1.00[AMR][1000 genomes]
rs16895602	1.00[AMR][1000 genomes]
rs16897417	1.00[AMR][1000 genomes]
rs2021278	1.00[AMR][1000 genomes]
rs2022271	1.00[AMR][1000 genomes]
rs2092113	1.00[AMR][1000 genomes]
rs55656206	1.00[AMR][1000 genomes]
rs55867104	1.00[AMR][1000 genomes]
rs55925824	1.00[AMR][1000 genomes]
rs56141916	1.00[AMR][1000 genomes]
rs56156722	1.00[AMR][1000 genomes]
rs57603020	1.00[AMR][1000 genomes]
rs58130043	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58265076	1.00[AMR][1000 genomes]
rs58900251	1.00[AMR][1000 genomes]
rs58977511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59757260	1.00[AMR][1000 genomes]
rs60259667	1.00[AMR][1000 genomes]
rs61185098	1.00[AMR][1000 genomes]
rs61392315	1.00[AMR][1000 genomes]
rs73738226	1.00[AMR][1000 genomes]
rs73738236	1.00[AMR][1000 genomes]
rs73738237	1.00[AMR][1000 genomes]
rs73738707	1.00[AMR][1000 genomes]
rs73738717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73738718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73738731	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73738732	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73738733	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73738734	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73738738	1.00[AMR][1000 genomes]
rs73738739	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73738741	1.00[AMR][1000 genomes]
rs73738749	1.00[AMR][1000 genomes]
rs73739521	1.00[AMR][1000 genomes]
rs73739522	1.00[AMR][1000 genomes]
rs73739531	1.00[AMR][1000 genomes]
rs73739534	1.00[AMR][1000 genomes]
rs73739545	1.00[AMR][1000 genomes]
rs73739557	1.00[AMR][1000 genomes]
rs73739578	1.00[AMR][1000 genomes]
rs73739581	1.00[AMR][1000 genomes]
rs73739582	1.00[AMR][1000 genomes]
rs73739586	1.00[AMR][1000 genomes]
rs73739587	1.00[AMR][1000 genomes]
rs73739589	1.00[AMR][1000 genomes]
rs73739591	1.00[AMR][1000 genomes]
rs73739594	1.00[AMR][1000 genomes]
rs73739595	1.00[AMR][1000 genomes]
rs73739598	1.00[AMR][1000 genomes]
rs73739600	1.00[AMR][1000 genomes]
rs73740278	1.00[AMR][1000 genomes]
rs73740404	1.00[AMR][1000 genomes]
rs73740405	1.00[AMR][1000 genomes]
rs73740406	1.00[AMR][1000 genomes]
rs73740409	1.00[AMR][1000 genomes]
rs73740414	1.00[AMR][1000 genomes]
rs73740432	1.00[AMR][1000 genomes]
rs7755679	1.00[AMR][1000 genomes]
rs858966	1.00[AMR][1000 genomes]
rs858971	1.00[AMR][1000 genomes]
rs996246	1.00[AMR][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27247000-27248400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:27247000-27249400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:27247000-27249400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:27247200-27248600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:27247200-27249000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:27247200-27249200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:27247200-27249200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:27247200-27249400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:27247200-27249400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:27247200-27249400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:27247200-27249400	Active TSS	A549	lung
12	chr6:27247200-27249400	Active TSS	Hela-S3	cervix
13	chr6:27247400-27248600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr6:27247400-27248600	Bivalent Enhancer	Brain Germinal Matrix	brain
15	chr6:27247400-27248600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr6:27247400-27248600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr6:27247400-27248800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:27247400-27248800	Active TSS	HSMMtube	muscle
19	chr6:27247400-27249200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:27247400-27249200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:27247400-27249400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:27247600-27248200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:27247600-27248200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr6:27247600-27248400	Bivalent/Poised TSS	Placenta	Placenta
25	chr6:27247600-27248600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:27247600-27248800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:27247600-27248800	Active TSS	NHEK	skin
28	chr6:27247600-27249000	Active TSS	NHDF-Ad	bronchial
29	chr6:27247600-27249000	Flanking Active TSS	Osteobl	bone
30	chr6:27247600-27249200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr6:27247600-27249200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:27247600-27249200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:27247600-27249200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:27247600-27249200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:27247600-27249400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:27247600-27249400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr6:27247600-27249400	Active TSS	GM12878-XiMat	blood
38	chr6:27247600-27249400	Active TSS	K562	blood
39	chr6:27247800-27248200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:27247800-27248200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:27247800-27248200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr6:27247800-27248400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:27247800-27248600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:27247800-27248600	Active TSS	HSMM	muscle
45	chr6:27247800-27248800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:27247800-27248800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:27247800-27249000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:27247800-27249400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr6:27248000-27248200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:27248000-27248200	Active TSS	HUVEC	blood vessel

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