Variant report

Variant	rs72500817
Chromosome Location	chr6:26459791-26459792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26457960..26461047-chr6:26519488..26522400,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228223	Chromatin interaction
ENSG00000199289	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2451713	0.83[EUR][1000 genomes]
rs72500811	1.00[ASN][1000 genomes]
rs72500812	1.00[ASN][1000 genomes]
rs72500813	1.00[ASN][1000 genomes]
rs72500815	1.00[ASN][1000 genomes]
rs72500816	1.00[ASN][1000 genomes]
rs72500818	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72500819	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
7	esv2763996	chr6:26423901-26465384	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1017824	chr6:26425410-26465384	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1030289	chr6:26428314-26464017	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1033003	chr6:26428314-26465384	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1031229	chr6:26428314-26467182	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1031238	chr6:26428314-26471596	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1024483	chr6:26429262-26465384	Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv1034561	chr6:26429262-26467182	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv528172	chr6:26430981-26463660	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
16	nsv1029357	chr6:26432815-26464789	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
17	nsv1023581	chr6:26432815-26465384	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
18	nsv1024222	chr6:26432815-26467182	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
19	nsv1022309	chr6:26434914-26464789	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
20	nsv601185	chr6:26455811-26465384	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	nsv965689	chr6:26457033-26469487	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26457600-26460400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:26458600-26459800	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr6:26458800-26459800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr6:26458800-26459800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:26458800-26459800	Active TSS	Brain Germinal Matrix	brain
6	chr6:26459000-26459800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:26459000-26459800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:26459000-26459800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:26459000-26459800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:26459000-26463400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:26459200-26459800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:26459200-26459800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:26459200-26459800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
14	chr6:26459200-26459800	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr6:26459200-26459800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:26459200-26459800	Enhancers	Placenta	Placenta
17	chr6:26459200-26459800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
18	chr6:26459200-26460000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:26459200-26460200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:26459200-26461200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:26459200-26461600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:26459200-26461600	Genic enhancers	Fetal Muscle Leg	muscle
23	chr6:26459200-26462000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:26459200-26462800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:26459200-26463000	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr6:26459200-26463000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:26459200-26463800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:26459200-26463800	Genic enhancers	Spleen	Spleen
29	chr6:26459400-26459800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr6:26459400-26459800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
31	chr6:26459400-26459800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr6:26459400-26459800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:26459400-26459800	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr6:26459400-26459800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:26459400-26459800	Flanking Active TSS	Psoas Muscle	Psoas
36	chr6:26459400-26459800	Flanking Active TSS	Right Atrium	heart
37	chr6:26459400-26460000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:26459400-26460000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:26459400-26460000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:26459400-26460000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr6:26459400-26460000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:26459400-26460000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:26459400-26460000	Flanking Active TSS	Fetal Brain Female	brain
44	chr6:26459400-26460000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
45	chr6:26459400-26460000	Transcr. at gene 5' and 3'	HepG2	liver
46	chr6:26459400-26460200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:26459400-26460200	Flanking Active TSS	Fetal Brain Male	brain
48	chr6:26459400-26460200	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
49	chr6:26459400-26460200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
50	chr6:26459400-26460400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood

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