Variant report

Variant	rs74115476
Chromosome Location	chr1:153525417-153525418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153522989-153525739	K562	blood:	n/a	n/a
2	POLR2A	chr1:153517452-153526571	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153524950..153526878-chr1:153963233..153964739,2	MCF-7	breast:
2	chr1:153520044..153522357-chr1:153524715..153527162,2	K562	blood:
3	chr1:153522864..153527279-chr1:153528529..153531164,4	K562	blood:
4	chr1:153522341..153524553-chr1:153525152..153528051,3	MCF-7	breast:
5	chr1:153524896..153526956-chr1:153582984..153585542,2	MCF-7	breast:
6	chr1:153514728..153519163-chr1:153523629..153528346,5	K562	blood:

No data

Variant related genes	Relation type
S100A4	TF binding region
S100A3	TF binding region
ENSG00000177954	Chromatin interaction
ENSG00000188015	Chromatin interaction
ENSG00000196154	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1047325	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1050923	0.91[EUR][1000 genomes]
rs11488669	0.94[EUR][1000 genomes]
rs16835437	0.87[EUR][1000 genomes]
rs16835455	0.87[EUR][1000 genomes]
rs28452456	0.91[EUR][1000 genomes]
rs28548347	0.91[EUR][1000 genomes]
rs28594230	0.94[EUR][1000 genomes]
rs28689606	0.94[EUR][1000 genomes]
rs28718953	0.91[EUR][1000 genomes]
rs36022742	0.91[EUR][1000 genomes]
rs3762268	0.97[EUR][1000 genomes]
rs41265162	0.91[EUR][1000 genomes]
rs41265164	0.91[EUR][1000 genomes]
rs4595398	0.91[EUR][1000 genomes]
rs55955983	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56043239	0.91[EUR][1000 genomes]
rs56057245	0.81[EUR][1000 genomes]
rs56089062	0.91[EUR][1000 genomes]
rs56350425	0.91[EUR][1000 genomes]
rs56838169	0.91[EUR][1000 genomes]
rs57024596	0.91[EUR][1000 genomes]
rs58056804	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58072118	0.91[EUR][1000 genomes]
rs59376279	0.91[EUR][1000 genomes]
rs60218214	0.97[EUR][1000 genomes]
rs60287468	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61265945	0.91[EUR][1000 genomes]
rs61558997	0.87[EUR][1000 genomes]
rs6427301	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671398	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6700310	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026350	0.91[EUR][1000 genomes]
rs74115473	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535476	0.81[EUR][1000 genomes]
rs8401	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:153519400-153526000	Weak transcription	Aorta	Aorta
3	chr1:153520000-153529400	Genic enhancers	HMEC	breast
4	chr1:153521800-153525600	Weak transcription	Fetal Heart	heart
5	chr1:153521800-153526400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:153522000-153525600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:153522200-153525600	Weak transcription	Ovary	ovary
8	chr1:153522400-153525800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:153522400-153526200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:153522400-153526200	Weak transcription	Stomach Mucosa	stomach
11	chr1:153522600-153525600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:153522600-153525800	Weak transcription	Osteobl	bone
13	chr1:153522600-153526000	Weak transcription	HUVEC	blood vessel
14	chr1:153522600-153526200	Weak transcription	NH-A	brain
15	chr1:153522600-153526400	Weak transcription	Fetal Stomach	stomach
16	chr1:153522600-153526400	Weak transcription	Pancreas	Pancrea
17	chr1:153522600-153538000	Weak transcription	Colonic Mucosa	Colon
18	chr1:153522800-153525600	Weak transcription	Spleen	Spleen
19	chr1:153522800-153525800	Enhancers	HepG2	liver
20	chr1:153522800-153526000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:153522800-153526000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:153522800-153526000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:153522800-153526000	Weak transcription	Right Ventricle	heart
24	chr1:153522800-153526000	Weak transcription	HSMM	muscle
25	chr1:153522800-153526000	Weak transcription	HSMMtube	muscle
26	chr1:153523000-153526200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:153523200-153525600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:153523200-153526000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:153523200-153526000	Weak transcription	Right Atrium	heart
30	chr1:153523200-153526200	Weak transcription	Left Ventricle	heart
31	chr1:153523400-153525600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:153523400-153525600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:153523600-153525600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:153523600-153525600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:153523600-153525800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:153523800-153526000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:153524000-153525600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:153524000-153525600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:153524000-153525800	Weak transcription	Placenta	Placenta
40	chr1:153524000-153526400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:153524000-153526800	Strong transcription	NHEK	skin
42	chr1:153524200-153525600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:153524200-153525600	Weak transcription	Esophagus	oesophagus
44	chr1:153524200-153525800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:153524200-153526000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:153524200-153526000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:153524200-153526000	Weak transcription	Adipose Nuclei	Adipose
48	chr1:153524200-153526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:153524200-153527400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr1:153524400-153525600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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