Variant report

Variant	rs73090952
Chromosome Location	chr1:227729215-227729216
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227727749..227729472-chr1:227739111..227740675,2	K562	blood:
2	chr1:227721537..227724263-chr1:227727527..227730135,2	MCF-7	breast:
3	chr1:227725139..227726773-chr1:227727190..227729662,2	K562	blood:
4	chr1:227725436..227728346-chr1:227728933..227731230,4	MCF-7	breast:
5	chr1:227728970..227731707-chr1:227751101..227754291,3	MCF-7	breast:
6	chr1:227726703..227728573-chr1:227729012..227731358,2	K562	blood:
7	chr1:227729010..227735281-chr1:227748522..227752811,6	MCF-7	breast:
8	chr1:227727960..227729815-chr1:228131832..228133962,2	MCF-7	breast:
9	chr1:227728158..227729940-chr1:227914897..227917653,2	MCF-7	breast:
10	chr1:227728577..227730296-chr1:227730401..227732480,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction
ENSG00000202264	Chromatin interaction
ENSG00000181450	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs12563117	1.00[EUR][1000 genomes]
rs12563564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564736	1.00[EUR][1000 genomes]
rs12564917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565099	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567934	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1323021	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13373816	1.00[EUR][1000 genomes]
rs16841323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847822	1.00[AMR][1000 genomes]
rs16847912	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847929	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848026	1.00[EUR][1000 genomes]
rs16848044	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16859962	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492440	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2313220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34984248	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35703429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462138	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57165550	1.00[AMR][1000 genomes]
rs58322371	1.00[AMR][1000 genomes]
rs58961542	0.94[ASN][1000 genomes]
rs59404931	1.00[AMR][1000 genomes]
rs59461077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59772630	1.00[AMR][1000 genomes]
rs60835672	1.00[AMR][1000 genomes]
rs61283390	1.00[AMR][1000 genomes]
rs6665512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675470	1.00[AMR][1000 genomes]
rs73088936	1.00[AMR][1000 genomes]
rs73090912	1.00[AMR][1000 genomes]
rs73090935	1.00[AMR][1000 genomes]
rs73090936	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090938	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090942	1.00[AMR][1000 genomes]
rs73090947	1.00[AMR][1000 genomes]
rs73090948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090954	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73090959	1.00[AMR][1000 genomes]
rs73090985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090995	1.00[AMR][1000 genomes]
rs73091000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092604	1.00[AMR][1000 genomes]
rs73092607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092646	1.00[AMR][1000 genomes]
rs73092653	1.00[AMR][1000 genomes]
rs73092661	1.00[AMR][1000 genomes]
rs73092665	1.00[AMR][1000 genomes]
rs73093304	1.00[AMR][1000 genomes]
rs73093319	1.00[AMR][1000 genomes]
rs73093328	1.00[AMR][1000 genomes]
rs73094528	1.00[AMR][1000 genomes]
rs73094536	1.00[AMR][1000 genomes]
rs73094538	1.00[AMR][1000 genomes]
rs73094556	1.00[AMR][1000 genomes]
rs73094558	1.00[AMR][1000 genomes]
rs73094561	1.00[AMR][1000 genomes]
rs73094571	1.00[AMR][1000 genomes]
rs73099300	1.00[AMR][1000 genomes]
rs73099302	1.00[AMR][1000 genomes]
rs73101625	1.00[AMR][1000 genomes]
rs73101653	1.00[AMR][1000 genomes]
rs73102372	1.00[AMR][1000 genomes]
rs73102384	1.00[AMR][1000 genomes]
rs73102391	1.00[AMR][1000 genomes]
rs73104364	1.00[AMR][1000 genomes]
rs7526436	1.00[AMR][1000 genomes]
rs7533013	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7546845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7554851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554870	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs996226	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv873247	chr1:227697381-227736363	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv947520	chr1:227724042-227750192	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv947560	chr1:227726600-227750192	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227726200-227729600	Weak transcription	Aorta	Aorta
2	chr1:227728400-227729600	Enhancers	Spleen	Spleen
3	chr1:227728600-227729400	Enhancers	Pancreas	Pancrea
4	chr1:227728800-227730400	Active TSS	Brain Anterior Caudate	brain
5	chr1:227729000-227729400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:227729000-227729400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:227729000-227729800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr1:227729000-227729800	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr1:227729200-227729400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:227729200-227729400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:227729200-227729400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:227729200-227729400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:227729200-227729400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:227729200-227729400	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:227729200-227729400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:227729200-227729400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:227729200-227729400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:227729200-227729400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:227729200-227729400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:227729200-227729400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:227729200-227729400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:227729200-227729400	Active TSS	Liver	Liver
23	chr1:227729200-227729400	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr1:227729200-227729400	Enhancers	Fetal Heart	heart
25	chr1:227729200-227729400	Enhancers	Fetal Intestine Small	intestine
26	chr1:227729200-227729400	Enhancers	Fetal Muscle Leg	muscle
27	chr1:227729200-227729400	Enhancers	Placenta	Placenta
28	chr1:227729200-227729400	Enhancers	Gastric	stomach
29	chr1:227729200-227729400	Enhancers	Right Ventricle	heart
30	chr1:227729200-227729400	Enhancers	NH-A	brain
31	chr1:227729200-227729400	Flanking Active TSS	Osteobl	bone
32	chr1:227729200-227729600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr1:227729200-227729600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr1:227729200-227729600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:227729200-227729600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:227729200-227729600	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr1:227729200-227729600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr1:227729200-227729600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr1:227729200-227729600	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr1:227729200-227729600	Flanking Active TSS	Lung	lung
41	chr1:227729200-227729800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:227729200-227729800	Enhancers	Fetal Lung	lung
43	chr1:227729200-227729800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr1:227729200-227730000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr1:227729200-227730000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:227729200-227730200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:227729200-227730400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:227729200-227730400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:227729200-227730400	Active TSS	Colon Smooth Muscle	Colon
50	chr1:227729200-227730400	Active TSS	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links