Variant report

Variant	rs74142618
Chromosome Location	chr1:228355650-228355651
allele	C/T
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	chr1:228352301..228356055-chr1:228400478..228402839,5	K562	blood:
2	chr1:228354901..228357377-chr1:228623648..228625524,2	K562	blood:
3	chr1:228350414..228357594-chr1:228359448..228365919,31	MCF-7	breast:
4	chr1:228353494..228355911-chr1:228462112..228465805,3	K562	blood:
5	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
6	chr1:228280178..228282214-chr1:228355468..228357999,2	K562	blood:
7	chr1:228268335..228271224-chr1:228352172..228356089,4	K562	blood:
8	chr1:228353049..228354978-chr1:228355027..228356903,2	MCF-7	breast:
9	chr1:228283995..228287162-chr1:228352238..228356052,3	K562	blood:
10	chr1:228350980..228355955-chr1:228356979..228359321,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269934	Chromatin interaction
ENSG00000264944	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000162913	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000203684	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11541554	1.00[AMR][1000 genomes]
rs15109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2231717	1.00[AMR][1000 genomes]
rs55662277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55686465	1.00[AMR][1000 genomes]
rs55904630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55923168	1.00[AMR][1000 genomes]
rs56003736	1.00[AMR][1000 genomes]
rs56029925	1.00[AMR][1000 genomes]
rs56080014	1.00[AMR][1000 genomes]
rs56137152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56280722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56285667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56377909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56386805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56410225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58045861	1.00[AMR][1000 genomes]
rs59460700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59478442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60628313	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61100243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61230585	1.00[AMR][1000 genomes]
rs61401568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140910	1.00[AMR][1000 genomes]
rs74140916	1.00[AMR][1000 genomes]
rs74140919	1.00[AMR][1000 genomes]
rs74140923	1.00[AMR][1000 genomes]
rs74140953	1.00[AMR][1000 genomes]
rs74140954	1.00[AMR][1000 genomes]
rs74140955	1.00[AMR][1000 genomes]
rs74140956	1.00[AMR][1000 genomes]
rs74140957	1.00[AMR][1000 genomes]
rs74140963	1.00[AMR][1000 genomes]
rs74140967	1.00[AMR][1000 genomes]
rs74140969	1.00[AMR][1000 genomes]
rs74140970	1.00[AMR][1000 genomes]
rs74140971	1.00[AMR][1000 genomes]
rs74140972	1.00[AMR][1000 genomes]
rs74140973	1.00[AMR][1000 genomes]
rs74140974	1.00[AMR][1000 genomes]
rs74140975	1.00[AMR][1000 genomes]
rs74140976	1.00[AMR][1000 genomes]
rs74140977	1.00[AMR][1000 genomes]
rs74140978	1.00[AMR][1000 genomes]
rs74140980	1.00[AMR][1000 genomes]
rs74140981	1.00[AMR][1000 genomes]
rs74140982	1.00[AMR][1000 genomes]
rs74140986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140999	1.00[AMR][1000 genomes]
rs74141000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142608	1.00[AFR][1000 genomes]
rs74142610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142616	1.00[AFR][1000 genomes]
rs74142619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142624	0.85[AFR][1000 genomes]
rs74142626	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142629	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142630	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142638	0.85[AFR][1000 genomes]
rs74142640	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
8	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
9	nsv873256	chr1:228322826-228359775	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
10	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
11	nsv549288	chr1:228327659-228363750	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv549289	chr1:228327999-228371098	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
13	nsv873258	chr1:228334088-228359775	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription 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	55 gene(s)	inside rSNPs	diseases
14	nsv873259	chr1:228334277-228359775	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
15	nsv873260	chr1:228334277-228371098	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
16	nsv873261	chr1:228338939-228359775	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
17	nsv873262	chr1:228340653-228371098	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
18	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
19	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228354400-228356400	Weak transcription	Ovary	ovary
2	chr1:228354400-228362600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:228354400-228384600	Weak transcription	Aorta	Aorta
4	chr1:228354600-228355800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:228354600-228356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:228354600-228357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:228354600-228359400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:228354600-228360400	Weak transcription	Gastric	stomach
9	chr1:228354600-228361200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:228354600-228362200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:228354600-228362200	Weak transcription	Fetal Thymus	thymus
12	chr1:228354600-228362400	Weak transcription	Psoas Muscle	Psoas
13	chr1:228354600-228363600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:228354600-228370400	Weak transcription	Right Atrium	heart
15	chr1:228354600-228382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:228354600-228385200	Weak transcription	Left Ventricle	heart
17	chr1:228354800-228355800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:228354800-228355800	Weak transcription	Thymus	Thymus
19	chr1:228354800-228356000	Weak transcription	Primary T cells from cord blood	blood
20	chr1:228354800-228356200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:228354800-228356200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:228354800-228356200	Weak transcription	Fetal Stomach	stomach
23	chr1:228354800-228356400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:228354800-228357000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:228354800-228357200	Weak transcription	Placenta	Placenta
26	chr1:228354800-228357400	Weak transcription	Small Intestine	intestine
27	chr1:228354800-228358000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:228354800-228358400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:228354800-228359000	Weak transcription	Fetal Kidney	kidney
30	chr1:228354800-228360000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:228354800-228360200	Weak transcription	Right Ventricle	heart
32	chr1:228354800-228360400	Weak transcription	Pancreas	Pancrea
33	chr1:228354800-228360400	Weak transcription	Spleen	Spleen
34	chr1:228354800-228360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:228354800-228361000	Weak transcription	Fetal Brain Female	brain
36	chr1:228354800-228361200	Weak transcription	Fetal Lung	lung
37	chr1:228354800-228361400	Weak transcription	Esophagus	oesophagus
38	chr1:228354800-228361400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:228354800-228361400	Weak transcription	A549	lung
40	chr1:228354800-228361600	Weak transcription	Colonic Mucosa	Colon
41	chr1:228354800-228362200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:228354800-228362200	Weak transcription	NHLF	lung
43	chr1:228354800-228362400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:228354800-228362400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:228354800-228362400	Weak transcription	Adipose Nuclei	Adipose
46	chr1:228354800-228362400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:228354800-228362400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:228354800-228362400	Weak transcription	Fetal Brain Male	brain
49	chr1:228354800-228362600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:228354800-228362600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links