Variant report

Variant	rs74130791
Chromosome Location	chr1:190448787-190448788
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:190448611-190449134	HCT-116	colon:	n/a	chr1:190448835-190448844
2	KAP1	chr1:190447510-190448985	HEK293	kidney:	n/a	n/a
3	CTCF	chr1:190448780-190448930	BE2_C	brain:	n/a	n/a
4	CTCF	chr1:190448763-190448974	Medullo	brain:	n/a	n/a
5	RAD21	chr1:190448681-190449024	H1-hESC	embryonic stem cell:	n/a	chr1:190448835-190448844
6	RAD21	chr1:190448738-190448955	H1-hESC	embryonic stem cell:	n/a	chr1:190448835-190448844
7	RAD21	chr1:190448693-190449035	H1-hESC	embryonic stem cell:	n/a	chr1:190448835-190448844
8	RAD21	chr1:190448728-190448928	SK-N-SH_RA	brain:	n/a	chr1:190448835-190448844
9	RAD21	chr1:190448759-190448968	SK-N-SH_RA	brain:	n/a	chr1:190448835-190448844
10	KAP1	chr1:190447723-190448915	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
BRINP3	TF binding region
ENSG00000241505	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs58160115	0.87[AFR][1000 genomes]
rs59070107	0.87[AFR][1000 genomes]
rs60548274	1.00[AFR][1000 genomes]
rs61426124	1.00[AFR][1000 genomes]
rs74130760	0.87[AFR][1000 genomes]
rs74130764	0.87[AFR][1000 genomes]
rs74130765	0.87[AFR][1000 genomes]
rs74130768	0.87[AFR][1000 genomes]
rs74130769	0.87[AFR][1000 genomes]
rs74130770	1.00[AFR][1000 genomes]
rs74130771	0.87[AFR][1000 genomes]
rs74130773	0.87[AFR][1000 genomes]
rs74130774	1.00[AFR][1000 genomes]
rs74130786	0.87[AFR][1000 genomes]
rs74130788	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv872758	chr1:190351677-190510003	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872760	chr1:190377988-190577336	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872761	chr1:190389741-190485034	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv872762	chr1:190389741-190510003	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv872763	chr1:190389741-190531642	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv872764	chr1:190399946-190531642	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv872765	chr1:190418653-190464647	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466750	chr1:190433413-190496007	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv548551	chr1:190433413-190496007	Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv466761	chr1:190433413-190545283	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv548552	chr1:190433413-190545283	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv466772	chr1:190446253-190492280	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv548553	chr1:190446253-190492280	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190440000-190448800	Active TSS	Duodenum Mucosa	Duodenum
2	chr1:190440200-190448800	Active TSS	Fetal Intestine Large	intestine
3	chr1:190440800-190448800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:190443000-190449600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:190445200-190449000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:190446200-190448800	Active TSS	Brain Germinal Matrix	brain
7	chr1:190446200-190449600	Active TSS	Brain Anterior Caudate	brain
8	chr1:190446200-190450000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:190447000-190449400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:190447200-190449000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:190447200-190449000	Active TSS	Brain Cingulate Gyrus	brain
12	chr1:190447200-190449000	Active TSS	Fetal Brain Female	brain
13	chr1:190447200-190449200	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:190447400-190448800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr1:190447400-190448800	Active TSS	Fetal Brain Male	brain
16	chr1:190447400-190449000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr1:190447400-190449000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:190447600-190448800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:190447800-190448800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:190447800-190448800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
21	chr1:190448000-190449000	Active TSS	Brain Substantia Nigra	brain
22	chr1:190448400-190448800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
23	chr1:190448400-190448800	Flanking Active TSS	Fetal Heart	heart
24	chr1:190448400-190449000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:190448400-190449000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:190448400-190449000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:190448400-190449000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:190448600-190448800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:190448600-190448800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr1:190448600-190448800	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr1:190448600-190448800	Enhancers	Fetal Lung	lung
32	chr1:190448600-190448800	Enhancers	Fetal Stomach	stomach
33	chr1:190448600-190449000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:190448600-190449000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:190448600-190449000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:190448600-190450200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:190448600-190452200	Weak transcription	Right Atrium	heart

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