Variant report

Variant	rs72984515
Chromosome Location	chr1:113193558-113193559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113187333..113190054-chr1:113191408..113193923,3	K562	blood:
2	chr1:113159954..113164373-chr1:113192711..113196451,4	K562	blood:
3	chr1:113192483..113194095-chr1:113217353..113219404,2	K562	blood:
4	chr1:113192182..113194200-chr1:113220715..113222774,2	K562	blood:

Variant related genes	Relation type
ENSG00000155363	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10399919	1.00[AMR][1000 genomes]
rs11102519	1.00[AMR][1000 genomes]
rs11102521	1.00[AMR][1000 genomes]
rs12060267	1.00[AMR][1000 genomes]
rs12069740	1.00[AMR][1000 genomes]
rs12073750	1.00[AMR][1000 genomes]
rs12074157	1.00[AMR][1000 genomes]
rs12077330	1.00[AMR][1000 genomes]
rs12087862	1.00[AMR][1000 genomes]
rs12095563	1.00[AMR][1000 genomes]
rs17030592	1.00[AMR][1000 genomes]
rs4424506	1.00[AMR][1000 genomes]
rs57354954	0.95[AFR][1000 genomes]
rs57573777	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58634778	1.00[AMR][1000 genomes]
rs59053530	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61203550	1.00[AMR][1000 genomes]
rs72982599	1.00[AMR][1000 genomes]
rs72984503	1.00[AMR][1000 genomes]
rs72984509	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72986505	1.00[AMR][1000 genomes]
rs72986535	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9919308	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113163600-113200000	Weak transcription	Fetal Kidney	kidney
2	chr1:113163800-113200200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:113163800-113200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:113164200-113204200	Weak transcription	Fetal Brain Male	brain
5	chr1:113168800-113199800	Weak transcription	Esophagus	oesophagus
6	chr1:113168800-113215800	Weak transcription	Fetal Heart	heart
7	chr1:113175200-113199800	Weak transcription	Psoas Muscle	Psoas
8	chr1:113175200-113200000	Weak transcription	Right Atrium	heart
9	chr1:113176000-113199200	Weak transcription	Fetal Brain Female	brain
10	chr1:113179000-113215600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:113179600-113197400	Weak transcription	Colonic Mucosa	Colon
12	chr1:113180000-113193800	Weak transcription	Stomach Mucosa	stomach
13	chr1:113180000-113216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:113180200-113199800	Weak transcription	Spleen	Spleen
15	chr1:113180200-113200800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:113180200-113203000	Weak transcription	Aorta	Aorta
17	chr1:113180800-113200000	Weak transcription	Brain Anterior Caudate	brain
18	chr1:113181200-113194000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:113181200-113201000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:113184200-113215600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:113184600-113214800	Strong transcription	Hela-S3	cervix
22	chr1:113184800-113199800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:113185000-113214800	Strong transcription	Dnd41	blood
24	chr1:113185400-113216200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:113186000-113210800	Strong transcription	GM12878-XiMat	blood
26	chr1:113186000-113214800	Strong transcription	Fetal Thymus	thymus
27	chr1:113186000-113215000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:113186200-113215400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:113187000-113213200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:113187000-113215200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:113187200-113215200	Strong transcription	HSMM	muscle
32	chr1:113187400-113215000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:113187800-113195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:113187800-113201400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:113187800-113202800	Weak transcription	Small Intestine	intestine
36	chr1:113187800-113204000	Weak transcription	Right Ventricle	heart
37	chr1:113187800-113216000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:113188000-113199200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:113188000-113200600	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:113188200-113200800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:113188400-113215000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:113188800-113195200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:113188800-113213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:113189000-113213800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:113189200-113194200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:113189200-113194800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:113189200-113203600	Weak transcription	Gastric	stomach
48	chr1:113189200-113203800	Weak transcription	Pancreas	Pancrea
49	chr1:113189200-113211000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:113189200-113214600	Strong transcription	NHEK	skin

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