Variant report

Variant	rs74118314
Chromosome Location	chr1:153596410-153596411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153541191..153544684-chr1:153594586..153597033,3	MCF-7	breast:
2	chr1:153539227..153541131-chr1:153594881..153597093,2	MCF-7	breast:
3	chr1:153527411..153530387-chr1:153595127..153597966,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196754	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11486185	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28444667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57058331	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59005288	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61083533	0.95[AFR][1000 genomes]
rs61296485	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115501	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118303	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118305	0.95[AFR][1000 genomes]
rs74118306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118307	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118316	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9700870	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153585600-153597600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:153585600-153598800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:153585600-153599000	Weak transcription	Aorta	Aorta
4	chr1:153585800-153599200	Weak transcription	Fetal Brain Male	brain
5	chr1:153586000-153598800	Weak transcription	Psoas Muscle	Psoas
6	chr1:153588600-153598800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:153589200-153599400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:153589400-153598600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:153589600-153597800	Weak transcription	HepG2	liver
10	chr1:153590000-153598600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:153590400-153597800	Weak transcription	Right Atrium	heart
12	chr1:153590400-153598200	Weak transcription	Colonic Mucosa	Colon
13	chr1:153590400-153598200	Weak transcription	Pancreas	Pancrea
14	chr1:153590400-153598600	Weak transcription	Brain Anterior Caudate	brain
15	chr1:153590400-153598600	Weak transcription	Esophagus	oesophagus
16	chr1:153590400-153598600	Weak transcription	Gastric	stomach
17	chr1:153590400-153598600	Weak transcription	K562	blood
18	chr1:153590600-153596600	Weak transcription	Fetal Heart	heart
19	chr1:153590600-153598000	Weak transcription	Small Intestine	intestine
20	chr1:153590600-153598600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:153590600-153599400	Weak transcription	Primary B cells from cord blood	blood
22	chr1:153590800-153598800	Weak transcription	Stomach Mucosa	stomach
23	chr1:153591000-153598800	Strong transcription	Fetal Intestine Small	intestine
24	chr1:153591200-153596800	Strong transcription	HMEC	breast
25	chr1:153591200-153598000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:153592200-153597200	Weak transcription	Lung	lung
27	chr1:153592400-153598000	Weak transcription	Ovary	ovary
28	chr1:153592400-153598000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:153592400-153598200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:153592800-153596800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:153593200-153596600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:153593400-153596800	Weak transcription	NHEK	skin
33	chr1:153593400-153598600	Weak transcription	Fetal Lung	lung
34	chr1:153594200-153596600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:153594400-153596600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:153594800-153597000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:153594800-153597800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:153594800-153598000	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:153594800-153598200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:153595000-153596800	Strong transcription	HUVEC	blood vessel
41	chr1:153595000-153597000	Genic enhancers	Rectal Smooth Muscle	rectum
42	chr1:153595000-153597200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:153595000-153598200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:153595000-153598400	Genic enhancers	Adipose Nuclei	Adipose
45	chr1:153595000-153598400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:153595200-153596600	Strong transcription	Left Ventricle	heart
47	chr1:153595200-153596800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:153595200-153597600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:153595200-153598000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:153595400-153596600	Enhancers	H1 Cell Line	embryonic stem cell

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