Variant report

Variant	rs74115717
Chromosome Location	chr1:153916856-153916857
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr1:153916781-153917495	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:153916730-153920129	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:153916855-153919612	GM12878	blood:	n/a	n/a
4	CREB1	chr1:153916831-153917447	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:153916720-153920791	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:153916846-153918808	PFSK-1	brain:	n/a	n/a
7	CREB1	chr1:153916788-153918225	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:153916141-153921885	GM12878	blood:	n/a	n/a
9	CREB1	chr1:153916744-153918848	GM12878	blood:	n/a	n/a
10	CREB1	chr1:153916824-153917570	K562	blood:	n/a	n/a
11	POLR2A	chr1:153916284-153918714	K562	blood:	n/a	n/a
12	CREB1	chr1:153916806-153917798	K562	blood:	n/a	n/a
13	POLR2A	chr1:153916854-153921234	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:153916543-153920136	K562	blood:	n/a	n/a
15	POLR2A	chr1:153916725-153917172	K562	blood:	n/a	n/a
16	POLR2A	chr1:153916529-153917251	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:153916246-153917148	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:153915931..153921352-chr1:153944041..153951714,10	K562	blood:
2	chr1:153916668..153920266-chr1:154191885..154196472,6	MCF-7	breast:
3	chr1:153915763..153918216-chr1:154155038..154156841,2	MCF-7	breast:

No data

Variant related genes	Relation type
DENND4B	TF binding region
ENSG00000143612	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143543	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4845582	0.96[AFR][1000 genomes]
rs56190300	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673803	0.83[AFR][1000 genomes]
rs7528635	0.85[AFR][1000 genomes]
rs9427245	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv872450	chr1:153889042-153937513	Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv532552	chr1:153912047-153950752	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153896800-153917600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:153901400-153917200	Strong transcription	Fetal Intestine Small	intestine
3	chr1:153901600-153917000	Strong transcription	Fetal Brain Female	brain
4	chr1:153901800-153917000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:153902000-153917000	Strong transcription	NHLF	lung
6	chr1:153903000-153917000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:153904800-153917000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:153905000-153917400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:153908000-153917000	Strong transcription	K562	blood
10	chr1:153909200-153918000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:153910200-153917400	Weak transcription	HUVEC	blood vessel
12	chr1:153910400-153917000	Weak transcription	Stomach Mucosa	stomach
13	chr1:153910400-153917400	Weak transcription	NH-A	brain
14	chr1:153910400-153917400	Weak transcription	NHDF-Ad	bronchial
15	chr1:153910400-153917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:153910400-153918000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:153910600-153917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:153910600-153917400	Weak transcription	Fetal Kidney	kidney
19	chr1:153910600-153917400	Weak transcription	HSMM	muscle
20	chr1:153910600-153917600	Weak transcription	HSMMtube	muscle
21	chr1:153912200-153917400	Weak transcription	Osteobl	bone
22	chr1:153912600-153917200	Weak transcription	HMEC	breast
23	chr1:153913000-153917400	Weak transcription	Small Intestine	intestine
24	chr1:153913400-153917600	Weak transcription	Psoas Muscle	Psoas
25	chr1:153913800-153917000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:153913800-153917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:153913800-153917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:153915000-153917000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:153915000-153918000	Weak transcription	Aorta	Aorta
30	chr1:153915200-153917000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:153915400-153917000	Genic enhancers	Placenta	Placenta
32	chr1:153915400-153917000	Genic enhancers	HepG2	liver
33	chr1:153915600-153917000	Weak transcription	Brain Anterior Caudate	brain
34	chr1:153915600-153917400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:153915800-153917200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:153915800-153917200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:153915800-153917200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:153915800-153917200	Weak transcription	Hela-S3	cervix
39	chr1:153915800-153917400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:153915800-153917400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:153915800-153917400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:153915800-153917800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:153916000-153917200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:153916000-153917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:153916200-153917000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr1:153916400-153917000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:153916400-153917000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:153916400-153917000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:153916400-153917000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:153916400-153917000	Weak transcription	Brain Germinal Matrix	brain

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