Variant report

Variant	rs72500818
Chromosome Location	chr6:26463778-26463779
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	STAT3	chr6:26463751-26463800	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26462941..26465022-chr6:26475685..26477185,2	K562	blood:

Variant related genes	Relation type
BTN2A1	TF binding region

Extended variants
information (count: 28 )
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]
rs72500817	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:20 , 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	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
16	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
17	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
18	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
19	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
20	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	chr6:26459200-26463800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:26459200-26463800	Genic enhancers	Spleen	Spleen
3	chr6:26459600-26464000	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr6:26459600-26469600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:26459600-26469600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:26459600-26469600	Strong transcription	A549	lung
7	chr6:26459600-26469800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:26459600-26470000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:26459600-26470200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:26459600-26470400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:26459800-26469800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:26460000-26469600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:26460000-26469600	Strong transcription	HSMM	muscle
14	chr6:26460000-26469600	Strong transcription	NHEK	skin
15	chr6:26460000-26470400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:26460000-26471400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:26460200-26469400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:26460200-26469600	Strong transcription	Placenta	Placenta
19	chr6:26460400-26464400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:26460400-26469600	Strong transcription	NHLF	lung
21	chr6:26460600-26470200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:26461400-26467400	Strong transcription	Fetal Kidney	kidney
23	chr6:26461400-26469600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:26461400-26469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:26461400-26469600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:26461400-26470200	Strong transcription	Fetal Thymus	thymus
27	chr6:26461600-26464400	Weak transcription	Fetal Heart	heart
28	chr6:26461600-26464600	Weak transcription	Stomach Mucosa	stomach
29	chr6:26461600-26469000	Strong transcription	Hela-S3	cervix
30	chr6:26461600-26469200	Strong transcription	Colonic Mucosa	Colon
31	chr6:26461600-26469600	Strong transcription	Fetal Lung	lung
32	chr6:26461600-26469600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr6:26461600-26469600	Strong transcription	HepG2	liver
34	chr6:26461600-26469800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:26461600-26469800	Strong transcription	Fetal Muscle Leg	muscle
36	chr6:26461600-26470000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr6:26461600-26470000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:26461600-26470200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:26461600-26470200	Strong transcription	Liver	Liver
40	chr6:26461600-26470400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:26461600-26470400	Strong transcription	Left Ventricle	heart
42	chr6:26461600-26471000	Strong transcription	Thymus	Thymus
43	chr6:26461600-26471200	Strong transcription	Fetal Intestine Small	intestine
44	chr6:26461600-26471600	Strong transcription	Fetal Stomach	stomach
45	chr6:26461600-26471600	Weak transcription	Right Atrium	heart
46	chr6:26461800-26469600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:26461800-26469600	Strong transcription	K562	blood
48	chr6:26462000-26465000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:26462000-26465200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr6:26462000-26469600	Strong transcription	Adipose Nuclei	Adipose

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