Variant report

Variant	rs72956029
Chromosome Location	chr1:93219469-93219470
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	MAX	chr1:93219427-93219919	SK-N-SH	brain:	n/a	chr1:93219717-93219726 chr1:93219718-93219727
2	JUND	chr1:93219387-93220403	SK-N-SH	brain:	n/a	chr1:93219718-93219726 chr1:93219718-93219725 chr1:93219717-93219726
3	NFIC	chr1:93219379-93220020	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr1:93219323-93220255	SK-N-SH	brain:	n/a	n/a
5	MAX	chr1:93219427-93219789	SK-N-SH	brain:	n/a	chr1:93219717-93219726 chr1:93219718-93219727
6	MXI1	chr1:93219358-93220543	IMR90	lung:	n/a	n/a
7	JUND	chr1:93219451-93219905	Hela-S3	cervix:	n/a	chr1:93219718-93219726 chr1:93219718-93219725 chr1:93219717-93219726
8	GATA3	chr1:93219328-93220135	SK-N-SH	brain:	n/a	n/a
9	JUND	chr1:93219382-93220039	SK-N-SH	brain:	n/a	chr1:93219718-93219726 chr1:93219718-93219725 chr1:93219717-93219726
10	FOSL2	chr1:93219446-93220076	SK-N-SH	brain:	n/a	chr1:93219718-93219726 chr1:93219718-93219725 chr1:93219717-93219726
11	GATA3	chr1:93219298-93220197	SK-N-SH	brain:	n/a	n/a
12	JUND	chr1:93219406-93220075	SK-N-SH	brain:	n/a	chr1:93219718-93219726 chr1:93219718-93219725 chr1:93219717-93219726

No.	Distal block	Cell Line	Cell type
1	chr1:93218168..93220841-chr1:93296877..93299515,3	K562	blood:
2	chr1:93217706..93221127-chr1:93297522..93299381,3	K562	blood:
3	chr1:93219197..93221453-chr1:93249271..93251757,2	K562	blood:

Variant related genes	Relation type
ENSG00000234202	TF binding region
CCNJP2	TF binding region
ENSG00000067208	Chromatin interaction
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2391176	1.00[AMR][1000 genomes]
rs59590952	1.00[AMR][1000 genomes]
rs60815312	1.00[AMR][1000 genomes]
rs72956041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964704	1.00[AMR][1000 genomes]
rs72964707	1.00[AMR][1000 genomes]
rs72964727	1.00[AMR][1000 genomes]
rs72966172	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966196	1.00[AMR][1000 genomes]
rs72966719	1.00[AMR][1000 genomes]
rs72966728	1.00[AMR][1000 genomes]
rs72966760	1.00[AMR][1000 genomes]
rs72966784	1.00[AMR][1000 genomes]
rs72966791	1.00[AMR][1000 genomes]
rs72968037	1.00[AMR][1000 genomes]
rs72968083	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968088	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968836	1.00[AMR][1000 genomes]
rs72970627	1.00[AMR][1000 genomes]
rs72970638	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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	51 gene(s)	inside rSNPs	diseases
4	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93190000-93221800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:93190200-93220000	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:93191200-93221600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:93192400-93221200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:93192400-93226400	Weak transcription	Esophagus	oesophagus
6	chr1:93193000-93223800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:93200200-93224000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:93201000-93220000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:93209200-93222400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:93209200-93227800	Weak transcription	Primary B cells from cord blood	blood
11	chr1:93210000-93221200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
13	chr1:93212400-93220000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:93213800-93221200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:93213800-93221200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:93213800-93221200	Weak transcription	Gastric	stomach
17	chr1:93214000-93221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:93214000-93221200	Weak transcription	Placenta	Placenta
19	chr1:93214000-93224200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:93214000-93224600	Weak transcription	Psoas Muscle	Psoas
21	chr1:93214000-93231200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:93214000-93240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:93214000-93248400	Weak transcription	Lung	lung
24	chr1:93214200-93221200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:93217600-93219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:93218000-93219600	Enhancers	Osteobl	bone
27	chr1:93218000-93220000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:93218000-93220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:93218000-93220000	Enhancers	HMEC	breast
30	chr1:93218000-93220000	Enhancers	NHEK	skin
31	chr1:93218000-93220200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:93218000-93220600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:93218000-93220600	Enhancers	NHLF	lung
34	chr1:93218200-93219800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:93218200-93220000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:93218200-93220000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:93218200-93221800	Enhancers	NH-A	brain
38	chr1:93218400-93219600	Enhancers	HSMM	muscle
39	chr1:93218400-93219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:93218400-93220000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:93218400-93220000	Enhancers	Hela-S3	cervix
42	chr1:93218400-93220400	Enhancers	HUVEC	blood vessel
43	chr1:93218400-93220600	Enhancers	NHDF-Ad	bronchial
44	chr1:93218600-93219600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:93218600-93220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:93218600-93221000	Weak transcription	Brain Angular Gyrus	brain
47	chr1:93218600-93223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:93218800-93220000	Weak transcription	K562	blood
49	chr1:93218800-93220800	Weak transcription	Brain Anterior Caudate	brain
50	chr1:93218800-93220800	Weak transcription	Brain Hippocampus Middle	brain

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