Variant report

Variant	rs72683468
Chromosome Location	chr1:113564178-113564179
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113495044..113497639-chr1:113562401..113565157,2	K562	blood:
2	chr1:113496138..113497721-chr1:113563292..113564960,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1216774	0.86[ASN][1000 genomes]
rs1216776	0.86[ASN][1000 genomes]
rs1216778	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440299	0.84[AMR][1000 genomes]
rs17494145	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17494180	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2149036	0.84[AMR][1000 genomes]
rs4839270	0.84[AMR][1000 genomes]
rs4839272	0.87[AMR][1000 genomes]
rs4839276	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4839277	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55768060	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55982206	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55992320	0.87[AMR][1000 genomes]
rs56019044	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6669006	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683442	0.84[AMR][1000 genomes]
rs72683453	0.87[AMR][1000 genomes]
rs72683454	0.80[EUR][1000 genomes]
rs72683459	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72683463	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
10	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113526600-113564200	Weak transcription	Placenta	Placenta
2	chr1:113535800-113564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:113535800-113568800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:113539600-113564200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:113541000-113573800	Weak transcription	Right Ventricle	heart
6	chr1:113541600-113564200	Weak transcription	Osteobl	bone
7	chr1:113543200-113574400	Weak transcription	HSMM	muscle
8	chr1:113551200-113564200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:113551200-113564400	Weak transcription	Adipose Nuclei	Adipose
10	chr1:113551200-113569800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:113551200-113569800	Weak transcription	Left Ventricle	heart
12	chr1:113552800-113570200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:113553000-113572200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:113555600-113572200	Weak transcription	Primary T cells from cord blood	blood
15	chr1:113555600-113584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:113556800-113564200	Weak transcription	Fetal Intestine Large	intestine
17	chr1:113556800-113564200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:113562400-113574000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:113563000-113564200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:113563400-113564200	Enhancers	NHEK	skin
21	chr1:113563400-113564600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:113563400-113564800	Enhancers	Stomach Mucosa	stomach
23	chr1:113563800-113564800	Enhancers	Fetal Heart	heart
24	chr1:113564000-113564200	Enhancers	Colonic Mucosa	Colon
25	chr1:113564000-113564200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:113564000-113564200	Enhancers	Hela-S3	cervix
27	chr1:113564000-113564200	Enhancers	HMEC	breast
28	chr1:113564000-113564400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:113564000-113564400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:113564000-113564400	Enhancers	Colon Smooth Muscle	Colon
31	chr1:113564000-113564600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:113564000-113564600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:113564000-113564600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:113564000-113564600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:113564000-113564600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:113564000-113564600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:113564000-113564600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:113564000-113564600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:113564000-113564600	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:113564000-113564600	Flanking Active TSS	HepG2	liver
41	chr1:113564000-113564800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:113564000-113564800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:113564000-113564800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:113564000-113564800	Enhancers	K562	blood
45	chr1:113564000-113565000	Enhancers	Liver	Liver
46	chr1:113564000-113569600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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