Variant report

Variant	rs11963559
Chromosome Location	chr6:26525771-26525772
allele	C/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	chr6:26525756-26526098	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26522739..26526214-chr6:26594718..26597971,4	K562	blood:
2	chr6:26521728..26524870-chr6:26525559..26528465,3	MCF-7	breast:
3	chr6:26380688..26382359-chr6:26523846..26526048,2	K562	blood:
4	chr6:26525132..26526895-chr6:26528404..26530256,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261353	TF binding region
ENSG00000228223	Chromatin interaction
ENSG00000146109	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11962165	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs41267935	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41267937	0.92[EUR][1000 genomes]
rs45568331	0.92[EUR][1000 genomes]
rs45600933	0.92[EUR][1000 genomes]
rs57838818	0.90[EUR][1000 genomes]
rs61646623	0.92[EUR][1000 genomes]
rs73393299	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395204	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395235	0.88[EUR][1000 genomes]
rs7739936	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768682	0.90[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	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv965690	chr6:26522364-26528458	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26522600-26533200	Weak transcription	NHLF	lung
2	chr6:26522800-26526600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:26522800-26530200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr6:26522800-26533200	Weak transcription	Ovary	ovary
5	chr6:26523000-26525800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:26523400-26526000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:26523400-26526000	Weak transcription	HSMMtube	muscle
8	chr6:26523400-26526200	Weak transcription	Right Ventricle	heart
9	chr6:26523400-26527800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:26523400-26527800	Weak transcription	Psoas Muscle	Psoas
11	chr6:26523400-26528000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:26523400-26528400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:26523400-26532200	Weak transcription	Primary T cells from cord blood	blood
14	chr6:26523400-26532200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:26523400-26533000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:26523400-26533200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:26523600-26526400	Enhancers	HepG2	liver
18	chr6:26523600-26527000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:26523600-26533200	Weak transcription	NHDF-Ad	bronchial
20	chr6:26523800-26526000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:26523800-26526400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:26523800-26527800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:26523800-26528000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:26523800-26528000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:26523800-26528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:26523800-26532200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:26524000-26527800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:26524000-26527800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:26524000-26533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:26524200-26528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:26524200-26532400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:26524200-26533200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:26524400-26526000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:26524400-26526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:26524400-26532200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:26524400-26532400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:26524400-26532600	Weak transcription	A549	lung
38	chr6:26524400-26533000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:26524800-26525800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:26525200-26525800	Enhancers	Primary B cells from cord blood	blood
41	chr6:26525400-26525800	Enhancers	Primary hematopoietic stem cells	blood
42	chr6:26525400-26525800	Weak transcription	Hela-S3	cervix
43	chr6:26525400-26526400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:26525600-26526400	Enhancers	K562	blood

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