Variant report

Variant	rs7754132
Chromosome Location	chr6:163955719-163955720
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:163955712-163955860	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163832850..163838270-chr6:163950827..163956360,5	K562	blood:

Variant related genes	Relation type
QKI	TF binding region
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11964059	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56098044	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57325238	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59777232	1.00[EUR][1000 genomes]
rs73013596	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73017335	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73021403	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73021406	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73021501	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7739152	1.00[EUR][1000 genomes]
rs7752293	1.00[EUR][1000 genomes]
rs7755889	1.00[EUR][1000 genomes]
rs7756950	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7760526	0.94[AMR][1000 genomes];1.00[EUR][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	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027863	chr6:163934616-163965216	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
2	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
3	chr6:163935200-163958800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:163935200-163959400	Weak transcription	Lung	lung
5	chr6:163936800-163957400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:163939800-163956200	Enhancers	Brain Anterior Caudate	brain
7	chr6:163940200-163983000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:163944200-163957400	Enhancers	Brain Substantia Nigra	brain
9	chr6:163945000-163957400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:163945800-163955800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:163946200-163955800	Enhancers	Liver	Liver
12	chr6:163948400-163958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:163948600-163959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:163948600-163964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:163949000-163958000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:163949200-163955800	Enhancers	Brain Germinal Matrix	brain
17	chr6:163949400-163959200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:163949600-163975200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:163949600-163992000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:163949600-163995400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:163950800-163956200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:163951000-163978800	Weak transcription	Fetal Kidney	kidney
23	chr6:163951200-163956000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:163951200-163956000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:163951200-163956000	Enhancers	NHLF	lung
26	chr6:163951200-163993200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:163951400-163956200	Enhancers	HSMM	muscle
28	chr6:163951600-163985800	Weak transcription	Hela-S3	cervix
29	chr6:163951800-163956200	Enhancers	NHDF-Ad	bronchial
30	chr6:163951800-163973400	Weak transcription	Fetal Stomach	stomach
31	chr6:163952000-163956000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:163952000-163956200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:163952000-163958600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:163952200-163955800	Enhancers	NH-A	brain
35	chr6:163952200-163957000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:163952400-163956200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:163952400-163984400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:163952600-163956000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr6:163952600-163958000	Weak transcription	Ovary	ovary
40	chr6:163952600-163958400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:163952600-163959200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:163952600-163959400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:163952600-163960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:163952600-163960400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:163952600-163960800	Enhancers	Brain Cingulate Gyrus	brain
46	chr6:163952600-163961400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:163952600-163972000	Weak transcription	Primary T cells from cord blood	blood
48	chr6:163952600-163979600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:163952600-163981400	Weak transcription	Pancreas	Pancrea
50	chr6:163952600-163982800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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