Variant report

Variant	rs10421241
Chromosome Location	chr19:38709152-38709153
allele	C/G
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	CBX3	chr19:38708865-38709163	K562	blood:	n/a	n/a
2	CBX3	chr19:38708849-38709176	K562	blood:	n/a	n/a
3	RCOR1	chr19:38708924-38709243	K562	blood:	n/a	n/a
4	ZNF143	chr19:38708922-38709195	K562	blood:	n/a	n/a
5	RCOR1	chr19:38708866-38709218	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38709001..38712807-chr19:38713403..38716348,3	K562	blood:
2	chr19:38704600..38706484-chr19:38706623..38709173,2	K562	blood:
3	chr19:38708386..38711062-chr19:38712686..38715377,3	K562	blood:

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000011332	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10401829	1.00[AMR][1000 genomes]
rs10401835	1.00[AMR][1000 genomes]
rs10402883	1.00[AMR][1000 genomes]
rs10403809	1.00[AMR][1000 genomes]
rs10405381	1.00[AMR][1000 genomes]
rs10406765	1.00[AMR][1000 genomes]
rs10407169	1.00[AMR][1000 genomes]
rs10407230	1.00[AMR][1000 genomes]
rs10408479	1.00[AMR][1000 genomes]
rs10408909	1.00[AMR][1000 genomes]
rs10412116	1.00[AMR][1000 genomes]
rs10413138	1.00[AMR][1000 genomes]
rs10413363	1.00[AMR][1000 genomes]
rs10413551	1.00[AMR][1000 genomes]
rs10413596	1.00[AMR][1000 genomes]
rs10414916	1.00[AMR][1000 genomes]
rs10414927	1.00[AMR][1000 genomes]
rs10415809	1.00[AMR][1000 genomes]
rs10423429	1.00[AMR][1000 genomes]
rs10424104	1.00[AMR][1000 genomes]
rs10424818	1.00[AMR][1000 genomes]
rs10425099	1.00[AMR][1000 genomes]
rs10425571	1.00[AMR][1000 genomes]
rs10426292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426458	1.00[AMR][1000 genomes]
rs28376501	1.00[AMR][1000 genomes]
rs28380555	1.00[AMR][1000 genomes]
rs28421402	1.00[AMR][1000 genomes]
rs28627637	1.00[AMR][1000 genomes]
rs28637743	1.00[AMR][1000 genomes]
rs28649033	1.00[AMR][1000 genomes]
rs28660098	1.00[AMR][1000 genomes]
rs28700884	1.00[AMR][1000 genomes]
rs56134404	1.00[AMR][1000 genomes]
rs56216562	1.00[AMR][1000 genomes]
rs58260561	1.00[AMR][1000 genomes]
rs59571293	1.00[AMR][1000 genomes]
rs61456950	1.00[AMR][1000 genomes]
rs71354969	1.00[AMR][1000 genomes]
rs73630898	1.00[AMR][1000 genomes]
rs73632925	1.00[AMR][1000 genomes]
rs73930357	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38685400-38713800	Weak transcription	HepG2	liver
2	chr19:38701400-38714600	Weak transcription	Right Atrium	heart
3	chr19:38701800-38713200	Weak transcription	NHEK	skin
4	chr19:38702600-38709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:38702600-38713600	Weak transcription	Fetal Lung	lung
6	chr19:38702600-38714200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:38702600-38714400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:38702800-38712800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:38702800-38714200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:38702800-38714400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:38705000-38714400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:38705000-38714400	Weak transcription	Brain Substantia Nigra	brain
13	chr19:38705200-38712800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:38705400-38713800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:38705400-38713800	Weak transcription	NHLF	lung
16	chr19:38705400-38714000	Weak transcription	NHDF-Ad	bronchial
17	chr19:38705400-38714200	Weak transcription	NH-A	brain
18	chr19:38706600-38713000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:38707000-38709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:38707000-38710400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:38707200-38710200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:38707200-38713200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:38707600-38714000	Weak transcription	Osteobl	bone
24	chr19:38707800-38713800	Weak transcription	Brain Angular Gyrus	brain
25	chr19:38707800-38713800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:38707800-38713800	Weak transcription	K562	blood
27	chr19:38707800-38714200	Weak transcription	HSMMtube	muscle
28	chr19:38708000-38710000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:38708000-38713000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:38708000-38713600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:38708000-38714000	Weak transcription	A549	lung
32	chr19:38708200-38713400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:38708400-38709600	Strong transcription	Fetal Muscle Leg	muscle
34	chr19:38708400-38709600	Strong transcription	Fetal Stomach	stomach
35	chr19:38708400-38711400	Weak transcription	Fetal Brain Male	brain
36	chr19:38708400-38713000	Strong transcription	Brain Germinal Matrix	brain
37	chr19:38708400-38713000	Strong transcription	Fetal Brain Female	brain
38	chr19:38708400-38713800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:38708400-38714000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:38708400-38714200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:38708600-38709800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:38708600-38710000	Strong transcription	Brain Anterior Caudate	brain
43	chr19:38708600-38710200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:38708600-38710200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr19:38708600-38711400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:38708800-38709200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:38708800-38710000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:38708800-38710000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:38709000-38709400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:38709000-38709400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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