Variant report

Variant	rs66700013
Chromosome Location	chr1:174921365-174921366
allele	A/C
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	FOXA2	chr1:174921117-174921444	HepG2	liver:	n/a	n/a
2	FOXA1	chr1:174921131-174921443	HepG2	liver:	n/a	n/a
3	FOXA1	chr1:174921200-174921451	HepG2	liver:	n/a	n/a
4	FOXA1	chr1:174921160-174921419	HepG2	liver:	n/a	n/a
5	FOXA1	chr1:174921044-174921495	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000229531	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10436863	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1046439	0.82[ASN][1000 genomes]
rs12083837	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1754349	0.83[EUR][1000 genomes]
rs1801791	0.82[ASN][1000 genomes]
rs1984418	0.82[ASN][1000 genomes]
rs2187562	0.82[EUR][1000 genomes]
rs2187939	0.82[ASN][1000 genomes]
rs2285208	0.82[ASN][1000 genomes]
rs2285210	0.82[ASN][1000 genomes]
rs2981894	0.81[EUR][1000 genomes]
rs3018410	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3753563	0.81[ASN][1000 genomes]
rs4651238	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741955	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828140	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828142	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6425305	0.88[EUR][1000 genomes]
rs6425309	0.81[ASN][1000 genomes]
rs6656665	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6665216	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7538588	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9804056	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1794782	chr1:174900761-174925112	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
3	chr1:174901000-174922200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:174908000-174926600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:174908000-174932400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:174908200-174924200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:174908600-174927400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:174908800-174932200	Weak transcription	Primary T cells from cord blood	blood
9	chr1:174910400-174922400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:174910400-174932400	Weak transcription	HSMMtube	muscle
11	chr1:174910800-174925800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:174912200-174925400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:174912400-174922400	Weak transcription	Right Atrium	heart
15	chr1:174912400-174922600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:174912400-174923800	Weak transcription	Gastric	stomach
17	chr1:174912600-174921800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:174912600-174922600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:174912600-174923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:174912600-174934800	Weak transcription	Left Ventricle	heart
21	chr1:174913800-174922800	Weak transcription	Pancreas	Pancrea
22	chr1:174914800-174932800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:174915000-174922400	Weak transcription	Primary B cells from cord blood	blood
24	chr1:174915400-174922400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:174915400-174922400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:174915600-174921800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:174915600-174921800	Weak transcription	Small Intestine	intestine
28	chr1:174915600-174922200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:174915600-174922400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:174915800-174921600	Weak transcription	Stomach Mucosa	stomach
31	chr1:174918600-174923800	Weak transcription	HUVEC	blood vessel
32	chr1:174919200-174926600	Enhancers	Fetal Intestine Large	intestine
33	chr1:174919800-174922600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:174920800-174926200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:174921000-174921600	Weak transcription	GM12878-XiMat	blood
36	chr1:174921000-174922400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:174921200-174921400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr1:174921200-174922600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:174921200-174924400	Enhancers	HepG2	liver
40	chr1:174921200-174924600	Enhancers	Liver	Liver
41	chr1:174921200-174925200	Enhancers	Fetal Intestine Small	intestine

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