Variant report

Variant	rs41266837
Chromosome Location	chr6:26409729-26409730
allele	A/G
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	CTCF	chr6:26409623-26409794	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:26409530-26409809	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr6:26409509-26409919	H1-hESC	embryonic stem cell:	n/a	chr6:26409575-26409582
4	ZNF143	chr6:26409597-26409841	H1-hESC	embryonic stem cell:	n/a	chr6:26409698-26409717
5	CTCF	chr6:26409640-26409790	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr6:26409511-26409859	H1-hESC	embryonic stem cell:	n/a	chr6:26409569-26409582 chr6:26409562-26409583
7	RAD21	chr6:26409566-26409890	H1-hESC	embryonic stem cell:	n/a	chr6:26409575-26409582
8	CTCF	chr6:26409486-26409804	H1-hESC	embryonic stem cell:	n/a	chr6:26409569-26409582 chr6:26409562-26409583
9	CTCF	chr6:26409519-26409733	K562	blood:	n/a	chr6:26409569-26409582 chr6:26409562-26409583
10	RAD21	chr6:26409414-26409962	H1-hESC	embryonic stem cell:	n/a	chr6:26409575-26409582

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26400774..26405587-chr6:26406042..26409897,8	K562	blood:
2	chr6:26408794..26411203-chr6:26449353..26451664,2	K562	blood:

Variant related genes	Relation type
BTN3A1	TF binding region
ENSG00000026950	Chromatin interaction
ENSG00000111801	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10456330	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10484440	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10946822	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199239	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12200782	0.93[ASN][1000 genomes]
rs12201802	0.93[ASN][1000 genomes]
rs12207181	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12208390	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3927423	0.88[ASN][1000 genomes]
rs41267923	0.95[ASN][1000 genomes]
rs59438701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912853	0.95[ASN][1000 genomes]
rs72843734	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv883491	chr6:26367689-26410800	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv883492	chr6:26367689-26436592	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv883493	chr6:26367689-26442786	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv883494	chr6:26367833-26442786	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv883495	chr6:26367833-26443853	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3334611	chr6:26367893-26443308	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	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
13	nsv883496	chr6:26369549-26413088	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv883497	chr6:26369549-26442786	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv883498	chr6:26369549-26443853	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv883499	chr6:26377591-26454454	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
17	esv3427999	chr6:26378373-26453532	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
18	nsv462664	chr6:26379537-26451553	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	nsv601184	chr6:26379537-26451553	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26394000-26412000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:26403000-26409800	Weak transcription	Aorta	Aorta
3	chr6:26403000-26410000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:26403000-26421200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:26403000-26421200	Weak transcription	Right Ventricle	heart
6	chr6:26403200-26412200	Weak transcription	Brain Angular Gyrus	brain
7	chr6:26403200-26415400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:26403200-26415600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:26403200-26420200	Weak transcription	HSMMtube	muscle
10	chr6:26403200-26421000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:26403200-26421000	Weak transcription	NHDF-Ad	bronchial
12	chr6:26403400-26409800	Weak transcription	Osteobl	bone
13	chr6:26403400-26411800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:26403400-26412200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:26403400-26414200	Weak transcription	K562	blood
16	chr6:26403400-26418200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:26403400-26418200	Weak transcription	Brain Germinal Matrix	brain
18	chr6:26403400-26421000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:26403400-26421000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:26403400-26421000	Weak transcription	Right Atrium	heart
21	chr6:26403600-26411600	Weak transcription	Fetal Brain Female	brain
22	chr6:26403600-26421200	Weak transcription	Psoas Muscle	Psoas
23	chr6:26404800-26414800	Strong transcription	Fetal Muscle Leg	muscle
24	chr6:26405000-26409800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:26405200-26412000	Strong transcription	Rectal Smooth Muscle	rectum
26	chr6:26405200-26414200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr6:26405200-26414600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr6:26405200-26414800	Strong transcription	Fetal Intestine Large	intestine
29	chr6:26405200-26421000	Weak transcription	Stomach Mucosa	stomach
30	chr6:26405400-26412400	Strong transcription	Fetal Lung	lung
31	chr6:26405400-26414000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:26405400-26414200	Strong transcription	Fetal Thymus	thymus
33	chr6:26405600-26412000	Strong transcription	GM12878-XiMat	blood
34	chr6:26405600-26412800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:26405600-26413800	Strong transcription	Primary B cells from cord blood	blood
36	chr6:26405600-26413800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr6:26405600-26414800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:26405600-26415800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:26405800-26410400	Strong transcription	Ovary	ovary
40	chr6:26405800-26413800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:26405800-26414600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr6:26405800-26414600	Strong transcription	Adipose Nuclei	Adipose
43	chr6:26405800-26414600	Strong transcription	Liver	Liver
44	chr6:26405800-26421200	Weak transcription	Small Intestine	intestine
45	chr6:26406000-26413600	Strong transcription	HepG2	liver
46	chr6:26406200-26410800	Strong transcription	Colon Smooth Muscle	Colon
47	chr6:26406200-26414600	Strong transcription	Dnd41	blood
48	chr6:26407000-26420400	Weak transcription	Fetal Brain Male	brain
49	chr6:26407400-26412200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:26407400-26413200	Strong transcription	Colonic Mucosa	Colon

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