Variant report

Variant	rs72757016
Chromosome Location	chr1:226188551-226188552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr1:226187922-226188765	K562	blood:	n/a	n/a
2	MXI1	chr1:226188490-226188747	K562	blood:	n/a	chr1:226188591-226188606 chr1:226188593-226188608
3	BHLHE40	chr1:226188526-226188669	K562	blood:	n/a	n/a
4	HCFC1	chr1:226188532-226188653	K562	blood:	n/a	n/a
5	GATA1	chr1:226186736-226189037	PBDE	blood:	n/a	chr1:226187217-226187224 chr1:226187214-226187226 chr1:226187206-226187223 chr1:226187215-226187225 chr1:226187215-226187224
6	MXI1	chr1:226188527-226188778	GM12878	blood:	n/a	chr1:226188591-226188606 chr1:226188593-226188608
7	NR2F2	chr1:226185311-226189269	K562	blood:	n/a	n/a
8	HEY1	chr1:226188396-226188793	K562	blood:	n/a	n/a
9	POLR2A	chr1:226188462-226188758	K562	blood:	n/a	n/a
10	CEBPB	chr1:226188431-226189168	K562	blood:	n/a	n/a
11	POLR2A	chr1:226186710-226189172	K562	blood:	n/a	n/a
12	POLR2A	chr1:226186662-226188756	GM12878	blood:	n/a	n/a
13	TBP	chr1:226188505-226188843	K562	blood:	n/a	n/a
14	POLR2A	chr1:226186667-226188798	GM12878	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226148548..226150301-chr1:226188144..226190996,2	K562	blood:
2	chr1:226187222..226188772-chr1:226264191..226266686,2	K562	blood:
3	chr1:225614620..225617599-chr1:226187708..226190219,2	K562	blood:
4	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
5	chr1:226187874..226190820-chr1:226213394..226216312,2	K562	blood:
6	chr1:226110464..226115809-chr1:226185735..226190763,7	K562	blood:
7	chr1:226067837..226071624-chr1:226184531..226189088,6	K562	blood:
8	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
9	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
10	chr1:226119019..226120944-chr1:226187286..226188826,2	K562	blood:
11	chr1:226187349..226189522-chr1:226208605..226211580,2	K562	blood:
12	chr1:226188139..226192155-chr1:226228386..226234051,6	K562	blood:
13	chr1:226147735..226150048-chr1:226187163..226189644,2	K562	blood:
14	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:
15	chr1:226187840..226190663-chr1:226296821..226299236,2	MCF-7	breast:
16	chr1:226108702..226117785-chr1:226183554..226190529,14	K562	blood:
17	chr1:225614459..225616811-chr1:226187382..226190190,2	K562	blood:

No data

Variant related genes	Relation type
SDE2	TF binding region
ENSG00000196187	Chromatin interaction
ENSG00000143815	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11583736	1.00[ASN][1000 genomes]
rs11583805	1.00[ASN][1000 genomes]
rs11585469	1.00[ASN][1000 genomes]
rs11589277	1.00[ASN][1000 genomes]
rs1219670	1.00[ASN][1000 genomes]
rs1219672	1.00[ASN][1000 genomes]
rs1877159	1.00[ASN][1000 genomes]
rs41268727	1.00[ASN][1000 genomes]
rs4278344	1.00[ASN][1000 genomes]
rs55772908	1.00[ASN][1000 genomes]
rs56113429	1.00[ASN][1000 genomes]
rs56170974	1.00[ASN][1000 genomes]
rs72757014	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226187400-226188800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:226187400-226188800	Flanking Active TSS	Thymus	Thymus
3	chr1:226187400-226189000	Flanking Active TSS	GM12878-XiMat	blood
4	chr1:226187400-226189200	Flanking Active TSS	K562	blood
5	chr1:226187400-226191000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr1:226187600-226189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:226187600-226189800	Weak transcription	Gastric	stomach
8	chr1:226187600-226189800	Weak transcription	Spleen	Spleen
9	chr1:226187800-226188800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:226187800-226188800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:226187800-226189400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:226187800-226189600	Weak transcription	NHDF-Ad	bronchial
13	chr1:226187800-226189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:226187800-226189800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:226187800-226189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:226187800-226189800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:226187800-226189800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:226187800-226189800	Weak transcription	Esophagus	oesophagus
19	chr1:226187800-226189800	Weak transcription	Pancreas	Pancrea
20	chr1:226187800-226189800	Weak transcription	Right Ventricle	heart
21	chr1:226187800-226189800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:226187800-226189800	Weak transcription	HMEC	breast
23	chr1:226187800-226190000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:226187800-226190000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:226187800-226190000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:226187800-226190000	Weak transcription	Left Ventricle	heart
27	chr1:226187800-226190000	Weak transcription	NHLF	lung
28	chr1:226187800-226190200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:226187800-226190200	Weak transcription	Liver	Liver
30	chr1:226187800-226190400	Weak transcription	Fetal Intestine Large	intestine
31	chr1:226187800-226190400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:226187800-226191000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:226188000-226188800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr1:226188000-226188800	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:226188000-226189400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:226188000-226189600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:226188000-226189800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:226188000-226189800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:226188000-226189800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:226188000-226189800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:226188000-226189800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:226188000-226189800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:226188000-226189800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:226188000-226189800	Weak transcription	Brain Substantia Nigra	brain
45	chr1:226188000-226189800	Weak transcription	HSMM	muscle
46	chr1:226188000-226189800	Weak transcription	HSMMtube	muscle
47	chr1:226188000-226189800	Weak transcription	NHEK	skin
48	chr1:226188000-226190000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:226188000-226190000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:226188000-226190000	Enhancers	Brain Anterior Caudate	brain

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