Variant report

Variant	rs41287670
Chromosome Location	chr1:59365820-59365821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr1:59364568-59365962	K562	blood:	n/a	n/a
2	EP300	chr1:59365813-59366008	K562	blood:	n/a	n/a
3	SPI1	chr1:59365355-59365987	HL-60	blood:	n/a	n/a
4	GATA1	chr1:59364322-59366703	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59335945..59337936-chr1:59364743..59367099,2	K562	blood:
2	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
3	chr1:59363087..59366662-chr1:59367277..59371776,8	K562	blood:
4	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
5	chr1:59365659..59367179-chr1:59378330..59379846,2	K562	blood:
6	chr1:59364854..59367542-chr1:59372083..59374801,2	K562	blood:
7	chr1:59316456..59319340-chr1:59363706..59366262,2	K562	blood:
8	chr1:59248088..59252183-chr1:59365231..59372787,10	MCF-7	breast:
9	chr1:59285707..59288503-chr1:59364904..59368288,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGGY-5	chr1:59365391-59366668	ENSG00000234807
2	lnc-FGGY-5	chr1:59365392-59366668	NONHSAT003525

No data

Variant related genes	Relation type
ENSG00000232453	TF binding region
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction
ENSG00000231740	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10158986	0.81[EUR][1000 genomes]
rs10159430	0.81[EUR][1000 genomes]
rs10889123	0.81[EUR][1000 genomes]
rs11207320	0.95[ASN][1000 genomes]
rs11207324	0.95[ASN][1000 genomes]
rs11207340	0.81[EUR][1000 genomes]
rs11207344	0.81[EUR][1000 genomes]
rs11802596	0.81[EUR][1000 genomes]
rs11803507	0.81[EUR][1000 genomes]
rs12079982	0.90[ASN][1000 genomes]
rs12239208	0.95[ASN][1000 genomes]
rs13375549	0.81[EUR][1000 genomes]
rs1886742	0.81[EUR][1000 genomes]
rs57136299	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57438070	0.81[EUR][1000 genomes]
rs58237960	0.81[EUR][1000 genomes]
rs58289858	0.81[EUR][1000 genomes]
rs58692001	0.95[ASN][1000 genomes]
rs58865277	0.81[EUR][1000 genomes]
rs59816047	0.95[ASN][1000 genomes]
rs60043252	0.81[EUR][1000 genomes]
rs61474703	0.89[ASN][1000 genomes]
rs6667591	0.81[EUR][1000 genomes]
rs6678724	0.81[EUR][1000 genomes]
rs6693265	0.81[EUR][1000 genomes]
rs72921508	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72921540	0.81[EUR][1000 genomes]
rs72921542	0.81[EUR][1000 genomes]
rs72921578	0.81[EUR][1000 genomes]
rs744171	0.87[EUR][1000 genomes];1.00[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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59356200-59368600	Weak transcription	Esophagus	oesophagus
2	chr1:59358200-59367200	Enhancers	HUVEC	blood vessel
3	chr1:59358400-59368600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:59358600-59367000	Enhancers	Adipose Nuclei	Adipose
5	chr1:59358800-59367000	Enhancers	Fetal Muscle Leg	muscle
6	chr1:59359000-59366400	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:59359000-59367000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:59359000-59367200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:59359000-59368600	Enhancers	Fetal Intestine Small	intestine
10	chr1:59359000-59368800	Enhancers	Fetal Intestine Large	intestine
11	chr1:59359200-59366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:59360000-59367000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:59360600-59366600	Enhancers	Colonic Mucosa	Colon
14	chr1:59361000-59366600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:59361200-59367000	Enhancers	Ovary	ovary
16	chr1:59361200-59368800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:59361600-59367000	Enhancers	Fetal Lung	lung
18	chr1:59361600-59368400	Weak transcription	GM12878-XiMat	blood
19	chr1:59361800-59368800	Weak transcription	HMEC	breast
20	chr1:59362000-59366000	Weak transcription	Osteobl	bone
21	chr1:59362200-59366600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:59362400-59368600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:59362400-59368600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:59362400-59368800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:59362400-59369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:59362600-59368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:59362600-59368800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:59362600-59368800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:59362800-59367800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:59362800-59367800	Weak transcription	Fetal Thymus	thymus
31	chr1:59362800-59368600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:59362800-59368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:59362800-59368800	Weak transcription	NH-A	brain
34	chr1:59362800-59368800	Weak transcription	NHEK	skin
35	chr1:59362800-59369000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:59362800-59369000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:59363000-59366000	Weak transcription	NHDF-Ad	bronchial
38	chr1:59363000-59366200	Weak transcription	NHLF	lung
39	chr1:59363200-59366800	Weak transcription	Hela-S3	cervix
40	chr1:59363200-59368400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:59363200-59368600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:59363200-59369000	Weak transcription	Brain Angular Gyrus	brain
43	chr1:59364200-59366400	Enhancers	Brain Hippocampus Middle	brain
44	chr1:59364200-59366600	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:59364200-59367000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:59364400-59366200	Enhancers	Brain Anterior Caudate	brain
47	chr1:59364400-59366400	Enhancers	Small Intestine	intestine
48	chr1:59364400-59366400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr1:59364400-59366600	Enhancers	Colon Smooth Muscle	Colon
50	chr1:59364400-59366600	Enhancers	Fetal Stomach	stomach

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