Variant report

Variant	rs9988624
Chromosome Location	chr1:45196541-45196542
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:131)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:131 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:45196086..45196947-chr14:35590878..35591536,2	Hela-S3	cervix:
2	chr1:45196056..45196639-chr12:52540153..52541120,2	Hela-S3	cervix:
3	chr1:45196086..45196665-chr12:6445460..6446354,2	Hela-S3	cervix:
4	chr1:45196080..45196748-chr11:47290943..47291514,2	Hela-S3	cervix:
5	chr1:11967939..11971240-chr1:45194928..45197844,3	K562	blood:
6	chr1:45194515..45198714-chr1:45239955..45244261,13	MCF-7	breast:
7	chr1:45196336..45197048-chr5:176873576..176874340,2	HCT-116	colon:
8	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
9	chr1:45196394..45197121-chr4:109541480..109542286,2	HCT-116	colon:
10	chr1:45195497..45197976-chr1:46711781..46715025,4	K562	blood:
11	chr1:45196394..45197102-chr4:75023670..75024212,2	Hela-S3	cervix:
12	chr1:45196245..45197123-chr14:54955160..54955765,2	Hela-S3	cervix:
13	chr1:45195509..45198075-chr1:45804039..45807111,4	K562	blood:
14	chr1:45096334..45100885-chr1:45195106..45197628,6	K562	blood:
15	chr1:45187216..45187887-chr1:45195575..45196869,4	MCF-7	breast:
16	chr1:45194189..45198394-chr1:45270401..45277394,13	MCF-7	breast:
17	chr1:44435855..44437705-chr1:45194660..45196622,2	K562	blood:
18	chr1:45196051..45196718-chr17:54673559..54674474,2	Hela-S3	cervix:
19	chr1:45196234..45197183-chr22:24951059..24951922,2	Hela-S3	cervix:
20	chr1:45193444..45198675-chr1:45475617..45480324,16	K562	blood:
21	chr1:45196265..45197015-chr12:72233488..72234280,2	Hela-S3	cervix:
22	chr1:45196249..45197212-chr13:111365516..111366107,2	Hela-S3	cervix:
23	chr1:45196303..45197166-chr1:59249336..59250143,2	Hela-S3	cervix:
24	chr1:28974970..28975684-chr1:45196463..45197173,2	HCT-116	colon:
25	chr1:45194988..45198272-chr1:45451491..45453905,3	K562	blood:
26	chr1:45194867..45196903-chr17:61522851..61524901,2	MCF-7	breast:
27	chr1:45195378..45196913-chr9:74979048..74981622,2	MCF-7	breast:
28	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
29	chr1:45196376..45197118-chrX:48815283..48816112,2	Hela-S3	cervix:
30	chr1:45196227..45197100-chr6:27860619..27861139,2	Hela-S3	cervix:
31	chr1:45195514..45197967-chr1:78468300..78470449,2	K562	blood:
32	chr1:45196191..45197074-chr17:62503488..62504453,2	Hela-S3	cervix:
33	chr1:43824063..43824829-chr1:45195821..45196655,2	Hela-S3	cervix:
34	chr1:45196384..45196925-chr9:136214388..136215199,2	Hela-S3	cervix:
35	chr1:935135..936219-chr1:45196260..45197083,3	Hela-S3	cervix:
36	chr1:45138378..45140523-chr1:45195153..45198091,3	MCF-7	breast:
37	chr1:45194369..45197773-chr1:46046767..46051199,5	K562	blood:
38	chr1:45193443..45200768-chr1:45280884..45289784,25	MCF-7	breast:
39	chr1:45195832..45196931-chr1:45805652..45806681,3	Hela-S3	cervix:
40	chr1:45195127..45198642-chr1:45986086..45989017,4	K562	blood:
41	chr1:45196398..45197093-chr10:70847289..70848231,2	NB4	blood:
42	chr1:45194597..45197062-chr16:30076613..30078245,2	K562	blood:
43	chr1:45193557..45198509-chr1:45202622..45207012,16	MCF-7	breast:
44	chr1:45194641..45196649-chr1:45215211..45217632,2	MCF-7	breast:
45	chr1:45194277..45197109-chr1:45476180..45479040,2	MCF-7	breast:
46	chr1:45195060..45196673-chr1:210546169..210549063,2	K562	blood:
47	chr1:45195836..45196605-chr17:36908724..36909237,2	Hela-S3	cervix:
48	chr1:45196376..45197160-chr9:131418990..131419490,2	Hela-S3	cervix:
49	chr1:45196372..45196898-chr4:75230821..75231749,2	HCT-116	colon:
50	chr1:45196201..45196883-chr10:75173083..75173956,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000162994	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000114779	Chromatin interaction
ENSG00000131188	Chromatin interaction
ENSG00000205913	Chromatin interaction
ENSG00000151929	Chromatin interaction
ENSG00000122862	Chromatin interaction
ENSG00000108294	Chromatin interaction
ENSG00000234492	Chromatin interaction
ENSG00000229815	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000135480	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000181904	Chromatin interaction
ENSG00000138867	Chromatin interaction
ENSG00000134717	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000243989	Chromatin interaction
ENSG00000136826	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000178999	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000177606	Chromatin interaction
ENSG00000207501	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000088888	Chromatin interaction
ENSG00000065621	Chromatin interaction
ENSG00000213516	Chromatin interaction
ENSG00000154079	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000117399	Chromatin interaction
ENSG00000068308	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000107372	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000140943	Chromatin interaction
ENSG00000261821	Chromatin interaction
ENSG00000139168	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000008283	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000107959	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000173451	Chromatin interaction
ENSG00000132128	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000269559	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000121274	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000112343	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000188290	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000124882	Chromatin interaction
ENSG00000167186	Chromatin interaction
ENSG00000133858	Chromatin interaction
ENSG00000109475	Chromatin interaction
ENSG00000117862	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000121749	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000119333	Chromatin interaction
ENSG00000085999	Chromatin interaction
ENSG00000229388	Chromatin interaction
ENSG00000234694	Chromatin interaction
ENSG00000167978	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000164237	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000261465	Chromatin interaction
ENSG00000132768	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000100227	Chromatin interaction
ENSG00000132002	Chromatin interaction
ENSG00000198668	Chromatin interaction
ENSG00000100028	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000138279	Chromatin interaction
ENSG00000117411	Chromatin interaction
ENSG00000120159	Chromatin interaction
ENSG00000197045	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000173660	Chromatin interaction
ENSG00000137944	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000163738	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000140459	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000121578	Chromatin interaction
ENSG00000148303	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000148297	Chromatin interaction
ENSG00000120656	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs41311199	1.00[EUR][1000 genomes]
rs74070590	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988437	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9988579	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
7	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
8	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45189800-45205000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:45191400-45196600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:45192800-45196800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:45192800-45197200	Weak transcription	HSMM	muscle
5	chr1:45192800-45197600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:45192800-45198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:45192800-45198800	Weak transcription	HMEC	breast
8	chr1:45193200-45197600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:45193400-45196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:45193400-45200400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:45194400-45196600	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:45194800-45196800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:45194800-45197600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:45195000-45196600	Weak transcription	GM12878-XiMat	blood
15	chr1:45195000-45196800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:45195000-45196800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:45195200-45196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:45195800-45196600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:45195800-45196600	Enhancers	HUVEC	blood vessel
20	chr1:45195800-45196600	Flanking Active TSS	K562	blood
21	chr1:45195800-45196600	Enhancers	NH-A	brain
22	chr1:45195800-45196800	Active TSS	Hela-S3	cervix
23	chr1:45195800-45197000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:45195800-45197200	Enhancers	Placenta	Placenta
25	chr1:45196000-45196800	Enhancers	HepG2	liver
26	chr1:45196000-45197000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:45196000-45197000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:45196000-45197200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr1:45196000-45197200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:45196000-45197200	Weak transcription	NHEK	skin
31	chr1:45196000-45197600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr1:45196200-45196600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr1:45196200-45196600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:45196200-45196600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:45196200-45196600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr1:45196200-45196600	Flanking Active TSS	Colonic Mucosa	Colon
37	chr1:45196200-45196600	Enhancers	Colon Smooth Muscle	Colon
38	chr1:45196200-45196600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr1:45196200-45196600	Enhancers	Fetal Heart	heart
40	chr1:45196200-45196600	Flanking Active TSS	Fetal Lung	lung
41	chr1:45196200-45196600	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr1:45196200-45196600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr1:45196200-45196800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:45196200-45196800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr1:45196200-45197000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:45196200-45197000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:45196200-45197000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr1:45196200-45197000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr1:45196200-45197000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:45196200-45197000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links