Variant report

Variant	rs73031470
Chromosome Location	chr1:165874015-165874016
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	MYBL2	chr1:165873964-165874546	HepG2	liver:	n/a	n/a
2	NFIC	chr1:165874014-165874517	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:165873958-165874521	HepG2	liver:	n/a	n/a
4	EP300	chr1:165874003-165874541	HepG2	liver:	n/a	chr1:165874122-165874136 chr1:165874127-165874141 chr1:165874120-165874134
5	POLR2A	chr1:165873836-165874098	K562	blood:	n/a	n/a
6	POLR2A	chr1:165873938-165877462	K562	blood:	n/a	n/a
7	POLR2A	chr1:165873868-165874022	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:165872725-165874716	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000236364	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1061771	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061772	0.96[AFR][1000 genomes]
rs10918307	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084653	0.84[AFR][1000 genomes]
rs12090859	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1663840	1.00[EUR][1000 genomes]
rs16852574	0.84[AFR][1000 genomes]
rs2153261	1.00[EUR][1000 genomes]
rs2153262	1.00[EUR][1000 genomes]
rs2185267	1.00[EUR][1000 genomes]
rs2275432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2349108	1.00[ASN][1000 genomes]
rs2349109	1.00[ASN][1000 genomes]
rs3748701	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790657	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790658	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790660	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790662	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790663	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790667	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790673	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806331	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61057126	0.92[AFR][1000 genomes]
rs6666697	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681761	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693108	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73031410	0.99[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165854600-165883000	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:165856600-165878800	Weak transcription	Small Intestine	intestine
3	chr1:165858200-165881200	Strong transcription	Dnd41	blood
4	chr1:165858400-165881000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:165858600-165902400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:165859000-165881000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:165859200-165878000	Strong transcription	Hela-S3	cervix
8	chr1:165859200-165880400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:165859200-165881000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:165859400-165880200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:165859400-165880400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:165859400-165880600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:165859400-165880600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:165859600-165880600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:165860000-165880200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr1:165866400-165875000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:165867200-165876800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:165867800-165876600	Weak transcription	Psoas Muscle	Psoas
19	chr1:165868400-165880200	Strong transcription	A549	lung
20	chr1:165869000-165875200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:165869200-165875000	Weak transcription	GM12878-XiMat	blood
22	chr1:165869200-165875200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:165869200-165875400	Weak transcription	Brain Germinal Matrix	brain
24	chr1:165869800-165874600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:165870000-165875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:165870000-165875200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:165870000-165875200	Weak transcription	Gastric	stomach
28	chr1:165870200-165875000	Weak transcription	Fetal Lung	lung
29	chr1:165870200-165875000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:165870200-165882800	Weak transcription	Fetal Brain Male	brain
31	chr1:165870400-165875000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:165870400-165876600	Weak transcription	Spleen	Spleen
33	chr1:165870400-165879400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:165870800-165875000	Weak transcription	Brain Angular Gyrus	brain
35	chr1:165870800-165880800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:165871000-165876000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:165871000-165883200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:165871800-165874200	Genic enhancers	NHEK	skin
39	chr1:165871800-165877000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:165871800-165880000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:165871800-165880800	Strong transcription	Fetal Stomach	stomach
42	chr1:165871800-165882200	Strong transcription	Fetal Brain Female	brain
43	chr1:165872000-165877200	Genic enhancers	HepG2	liver
44	chr1:165872000-165879000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:165872000-165879200	Strong transcription	Fetal Intestine Small	intestine
46	chr1:165872000-165879600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:165872000-165879800	Strong transcription	K562	blood
48	chr1:165872200-165874400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:165872200-165876600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr1:165872200-165879200	Strong transcription	Fetal Intestine Large	intestine

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