Variant report

Variant	rs8053774
Chromosome Location	chr16:69755827-69755828
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69755811..69761889-chr16:69791851..69798633,14	K562	blood:
2	chr16:69753621..69757467-chr16:69795868..69798081,4	MCF-7	breast:
3	chr16:69744941..69747947-chr16:69754865..69757522,3	MCF-7	breast:
4	chr16:69751147..69753338-chr16:69753585..69756622,3	K562	blood:
5	chr16:69741680..69751385-chr16:69755023..69763559,18	MCF-7	breast:
6	chr16:69749611..69753867-chr16:69754025..69757950,6	MCF-7	breast:
7	chr16:69751147..69753902-chr16:69755122..69757880,2	K562	blood:

Variant related genes	Relation type
ENSG00000261602	Chromatin interaction
ENSG00000198373	Chromatin interaction
ENSG00000238683	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10500553	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16958978	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16958991	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16959043	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16959109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16959116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34906225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35936271	0.87[AFR][1000 genomes]
rs45538135	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185079	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045180	1.00[AMR][1000 genomes]
rs8053982	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9746351	0.87[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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv517207	chr16:69745145-69771914	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69726600-69759800	Weak transcription	Psoas Muscle	Psoas
2	chr16:69728200-69758600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:69728400-69759200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:69729400-69760000	Weak transcription	Brain Germinal Matrix	brain
5	chr16:69729400-69760000	Weak transcription	Ovary	ovary
6	chr16:69730000-69759000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:69730600-69759800	Weak transcription	Fetal Brain Female	brain
8	chr16:69730800-69759800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:69731800-69759600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr16:69731800-69759800	Weak transcription	Primary B cells from cord blood	blood
11	chr16:69731800-69759800	Weak transcription	Right Ventricle	heart
12	chr16:69733800-69759800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:69736000-69758600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr16:69737200-69758800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr16:69738800-69759800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:69739200-69759800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:69740800-69758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:69741000-69759200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:69741000-69759400	Weak transcription	Small Intestine	intestine
20	chr16:69741400-69756600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:69741600-69759800	Weak transcription	Primary T cells from cord blood	blood
22	chr16:69743800-69758800	Weak transcription	Dnd41	blood
23	chr16:69743800-69760000	Weak transcription	Fetal Kidney	kidney
24	chr16:69744000-69759800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:69745400-69759800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr16:69745600-69757800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:69745800-69758400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:69746400-69756800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:69746600-69758800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:69747000-69759000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr16:69747200-69759600	Weak transcription	Thymus	Thymus
32	chr16:69747400-69757600	Strong transcription	Osteobl	bone
33	chr16:69747400-69759200	Weak transcription	Spleen	Spleen
34	chr16:69747400-69759400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:69747400-69759800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:69747400-69759800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:69748000-69756600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr16:69748800-69757800	Strong transcription	HSMM	muscle
39	chr16:69749400-69759000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr16:69749400-69759200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:69749400-69759200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr16:69749400-69759800	Weak transcription	Brain Angular Gyrus	brain
43	chr16:69749400-69760000	Weak transcription	Fetal Lung	lung
44	chr16:69749600-69760000	Weak transcription	Pancreas	Pancrea
45	chr16:69749800-69758800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr16:69749800-69759800	Weak transcription	Colon Smooth Muscle	Colon
47	chr16:69750600-69756400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:69751400-69758600	Weak transcription	Brain Anterior Caudate	brain
49	chr16:69751400-69758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:69751400-69759400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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