Variant report

Variant	rs72815620
Chromosome Location	chr6:5295185-5295186
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:5294825-5295204	K562	blood:	n/a	n/a
2	NR2F2	chr6:5294372-5295558	K562	blood:	n/a	n/a
3	HCFC1	chr6:5294650-5295436	K562	blood:	n/a	n/a
4	MAX	chr6:5295063-5295473	K562	blood:	n/a	n/a
5	MAFF	chr6:5294856-5295279	K562	blood:	n/a	n/a
6	NR2F2	chr6:5294578-5295453	K562	blood:	n/a	n/a
7	RCOR1	chr6:5294623-5295443	K562	blood:	n/a	n/a
8	MAX	chr6:5295147-5295415	K562	blood:	n/a	n/a
9	TBP	chr6:5294654-5295245	K562	blood:	n/a	n/a
10	BHLHE40	chr6:5294594-5295481	K562	blood:	n/a	n/a
11	MAX	chr6:5294764-5295430	K562	blood:	n/a	n/a
12	ELF1	chr6:5294635-5295257	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5259190..5262495-chr6:5294603..5298881,4	K562	blood:
2	chr6:5284244..5290564-chr6:5292142..5296092,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000220446	TF binding region
ENSG00000214113	Chromatin interaction
ENSG00000145982	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11757927	1.00[ASN][1000 genomes]
rs17140068	1.00[ASN][1000 genomes]
rs17140102	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17736496	1.00[ASN][1000 genomes]
rs17736611	1.00[ASN][1000 genomes]
rs17736905	1.00[ASN][1000 genomes]
rs59548069	1.00[ASN][1000 genomes]
rs67285271	1.00[ASN][1000 genomes]
rs72813693	1.00[ASN][1000 genomes]
rs72813697	1.00[ASN][1000 genomes]
rs72813700	1.00[ASN][1000 genomes]
rs72815603	1.00[ASN][1000 genomes]
rs72815610	1.00[ASN][1000 genomes]
rs72815613	1.00[ASN][1000 genomes]
rs72815615	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815618	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815643	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1035080	chr6:5206533-5396019	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv538116	chr6:5206533-5396019	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1016456	chr6:5216835-5315913	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv538117	chr6:5216835-5315913	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1028185	chr6:5247624-5340163	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1022911	chr6:5286297-5322133	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv538119	chr6:5286297-5322133	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5262400-5302400	Weak transcription	Aorta	Aorta
2	chr6:5263000-5301000	Weak transcription	Fetal Brain Male	brain
3	chr6:5279400-5298200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:5280800-5308200	Weak transcription	Primary T cells from cord blood	blood
5	chr6:5287400-5296200	Weak transcription	Thymus	Thymus
6	chr6:5287800-5313600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:5288000-5298200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:5288000-5303000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:5288000-5316200	Weak transcription	Fetal Stomach	stomach
10	chr6:5288400-5295200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:5288400-5302800	Weak transcription	Esophagus	oesophagus
12	chr6:5288400-5324000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:5288400-5331000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:5288600-5298200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:5288600-5302800	Weak transcription	HMEC	breast
16	chr6:5288600-5303000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:5288600-5303200	Weak transcription	NHEK	skin
18	chr6:5291200-5298000	Weak transcription	HepG2	liver
19	chr6:5292200-5303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:5292800-5334400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:5293200-5295400	Enhancers	Pancreas	Pancrea
22	chr6:5293400-5295200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:5293400-5295400	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:5293400-5295400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:5293400-5295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:5293400-5295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:5293600-5301400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:5293600-5302200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr6:5293600-5302400	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:5293800-5298400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:5293800-5306200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:5294000-5295200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr6:5294000-5295400	Enhancers	Primary B cells from peripheral blood	blood
34	chr6:5294000-5295400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:5294000-5295400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr6:5294000-5295400	Enhancers	Fetal Intestine Large	intestine
37	chr6:5294400-5295200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr6:5294400-5295200	Enhancers	Small Intestine	intestine
39	chr6:5294400-5295400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:5294400-5295400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:5294400-5295400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:5294400-5295400	Enhancers	Spleen	Spleen
43	chr6:5294400-5295400	Enhancers	GM12878-XiMat	blood
44	chr6:5294400-5295600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:5294400-5296200	Enhancers	Gastric	stomach
46	chr6:5294600-5295200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:5294600-5295200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:5294600-5295200	Enhancers	Fetal Muscle Leg	muscle
49	chr6:5294600-5295200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:5294600-5295400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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