Variant report

Variant	rs1222146
Chromosome Location	chr1:223961339-223961340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223941213..223943613-chr1:223960905..223963587,2	K562	blood:
2	chr1:223958981..223961667-chr1:224244026..224246906,2	K562	blood:
3	chr1:223959045..223962573-chr1:223982602..223986038,3	K562	blood:
4	chr1:223936854..223938919-chr1:223960180..223962303,2	K562	blood:
5	chr1:223947284..223949321-chr1:223959438..223962794,3	K562	blood:
6	chr1:223960037..223962346-chr1:224369329..224372784,3	K562	blood:
7	chr1:223947284..223949299-chr1:223960702..223962794,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143753	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1003061	0.83[ASN][1000 genomes]
rs1153927	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153929	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153930	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153933	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153934	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153936	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1153937	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1153938	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1153943	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1153947	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153949	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153971	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153973	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222120	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1222121	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1222124	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222128	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222156	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1621129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1629850	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16842270	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16842294	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16842321	0.87[ASN][1000 genomes]
rs1981171	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1982610	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1982612	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1982613	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242188	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28370163	0.92[EUR][1000 genomes]
rs28370164	0.92[EUR][1000 genomes]
rs28370167	0.92[EUR][1000 genomes]
rs28370172	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738370	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3767709	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3820475	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4653457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329085	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56918361	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59104475	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59196624	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60131749	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60164080	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60739082	0.82[ASN][1000 genomes]
rs6661816	0.84[ASN][1000 genomes]
rs6675712	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687003	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6694214	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749554	0.87[EUR][1000 genomes]
rs72749569	0.90[EUR][1000 genomes]
rs72749588	0.85[ASN][1000 genomes]
rs737066	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs750873	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7536779	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs898878	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223941200-223961600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:223954400-223961800	Weak transcription	HepG2	liver
3	chr1:223954800-223964000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:223956600-223962800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:223956600-223963400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:223956600-223963600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:223956600-223963600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:223956600-223963800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:223956600-223967000	Strong transcription	Lung	lung
10	chr1:223956600-223967200	Strong transcription	Colonic Mucosa	Colon
11	chr1:223956600-223968400	Strong transcription	Fetal Brain Female	brain
12	chr1:223956600-223969000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:223956600-223969000	Strong transcription	Fetal Stomach	stomach
14	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:223956800-223963000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:223956800-223963200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:223956800-223969000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:223956800-223969200	Strong transcription	Placenta	Placenta
20	chr1:223956800-223974200	Strong transcription	Primary T cells from cord blood	blood
21	chr1:223956800-223974200	Strong transcription	Liver	Liver
22	chr1:223957000-223962400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:223957000-223964000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:223957000-223983400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:223957200-223965000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:223957200-223968000	Strong transcription	Brain Germinal Matrix	brain
27	chr1:223957200-223968800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:223957200-223972800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:223957400-223962200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:223958200-223961400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:223958200-223962000	Strong transcription	Pancreas	Pancrea
32	chr1:223958400-223962000	Genic enhancers	Left Ventricle	heart
33	chr1:223958400-223963000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:223958400-223963800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:223958800-223962000	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr1:223958800-223965200	Genic enhancers	Fetal Muscle Leg	muscle
37	chr1:223959000-223961400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:223959200-223961400	Weak transcription	Right Ventricle	heart
39	chr1:223959200-223961800	Weak transcription	Dnd41	blood
40	chr1:223959200-223964200	Strong transcription	Colon Smooth Muscle	Colon
41	chr1:223959400-223961600	Weak transcription	Small Intestine	intestine
42	chr1:223959400-223962400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:223959600-223962000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:223959600-223962000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:223959600-223966600	Weak transcription	Fetal Brain Male	brain
46	chr1:223959600-223969000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:223959800-223962800	Weak transcription	Primary B cells from cord blood	blood
48	chr1:223959800-223977600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:223960000-223961800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:223960000-223961800	Weak transcription	Rectal Smooth Muscle	rectum

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