Variant report

Variant	rs72841505
Chromosome Location	chr6:26366428-26366429
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	FOS	chr6:26366270-26366480	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:26366195-26366515	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr6:26364117-26367241	SK-N-SH	brain:	n/a	chr6:26365782-26365791
4	RFX5	chr6:26362983-26367827	IMR90	lung:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
5	RFX5	chr6:26362934-26367943	SK-N-SH	brain:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375

No.	Distal block	Cell Line	Cell type
1	chr6:26364672..26366648-chr6:26519902..26522691,2	K562	blood:
2	chr6:26365788..26367808-chr6:26370738..26372498,2	K562	blood:
3	chr6:26363140..26366680-chr6:26382117..26385194,3	MCF-7	breast:
4	chr6:26365183..26366783-chr6:26383299..26386049,2	K562	blood:
5	chr6:26360935..26366570-chr6:26520779..26523276,5	K562	blood:

Variant related genes	Relation type
ENSG00000215979	TF binding region
BTN3A2	TF binding region
ENSG00000124508	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000186470	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72836476	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72841516	1.00[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26364600-26366800	Active TSS	Right Atrium	heart
2	chr6:26364600-26366800	Active TSS	Right Ventricle	heart
3	chr6:26364800-26366800	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr6:26364800-26366800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:26364800-26366800	Weak transcription	Spleen	Spleen
6	chr6:26364800-26367600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:26365000-26366600	Active TSS	Hela-S3	cervix
8	chr6:26365000-26366800	Active TSS	Primary T cells fromperipheralblood	blood
9	chr6:26365000-26366800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr6:26365000-26366800	Active TSS	Duodenum Mucosa	Duodenum
11	chr6:26365000-26366800	Active TSS	Fetal Thymus	thymus
12	chr6:26365000-26366800	Active TSS	Thymus	Thymus
13	chr6:26365000-26367000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:26365000-26367200	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr6:26365000-26367200	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:26365000-26367800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr6:26365200-26366600	Active TSS	Primary hematopoietic stem cells	blood
18	chr6:26365200-26366600	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:26365200-26366800	Active TSS	GM12878-XiMat	blood
20	chr6:26365600-26367600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr6:26365600-26367800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:26365800-26366800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:26365800-26366800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:26365800-26367600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr6:26365800-26367600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:26365800-26375200	Weak transcription	Aorta	Aorta
27	chr6:26366000-26366800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:26366000-26366800	Weak transcription	Left Ventricle	heart
29	chr6:26366000-26366800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:26366000-26366800	Weak transcription	Stomach Mucosa	stomach
31	chr6:26366000-26367000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr6:26366000-26367000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr6:26366000-26367000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr6:26366000-26367000	Enhancers	Fetal Kidney	kidney
35	chr6:26366000-26367200	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:26366000-26367200	Weak transcription	Small Intestine	intestine
37	chr6:26366000-26367800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:26366000-26368800	Weak transcription	Fetal Stomach	stomach
39	chr6:26366000-26369400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:26366000-26369400	Weak transcription	Fetal Lung	lung
41	chr6:26366000-26369400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:26366000-26369400	Weak transcription	Lung	lung
43	chr6:26366000-26369400	Weak transcription	Ovary	ovary
44	chr6:26366000-26369800	Weak transcription	Brain Angular Gyrus	brain
45	chr6:26366000-26369800	Weak transcription	Brain Substantia Nigra	brain
46	chr6:26366000-26373200	Weak transcription	Colonic Mucosa	Colon
47	chr6:26366000-26373800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:26366000-26374800	Weak transcription	Esophagus	oesophagus
49	chr6:26366000-26375000	Weak transcription	Brain Anterior Caudate	brain
50	chr6:26366000-26375600	Weak transcription	Gastric	stomach

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