Variant report

Variant	rs62119679
Chromosome Location	chr19:39838232-39838233
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr19:39838011-39838336	K562	blood:	n/a	chr19:39838180-39838192
2	HDAC2	chr19:39837943-39838287	K562	blood:	n/a	n/a
3	ARID3A	chr19:39838065-39838277	K562	blood:	n/a	n/a
4	MAZ	chr19:39838057-39838257	K562	blood:	n/a	n/a
5	CUX1	chr19:39838185-39838641	K562	blood:	n/a	n/a
6	RCOR1	chr19:39837982-39838856	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39837705..39840014-chr19:39891010..39893848,2	MCF-7	breast:
2	chr19:39837697..39838486-chr3:122102704..122103488,2	Hela-S3	cervix:
3	chr19:39836209..39838798-chr19:39898622..39900685,2	K562	blood:
4	chr19:39831061..39834961-chr19:39835519..39840001,9	MCF-7	breast:
5	chr19:39836588..39838326-chr19:39882072..39883751,2	K562	blood:
6	chr19:39835229..39838232-chr19:39847109..39849134,3	MCF-7	breast:
7	chr19:39830889..39835466-chr19:39836647..39841099,6	MCF-7	breast:
8	chr19:39838097..39840751-chr19:39908169..39910742,2	K562	blood:
9	chr19:39836712..39838528-chr19:39893059..39894655,2	K562	blood:
10	chr19:39690001..39692280-chr19:39837485..39839141,2	K562	blood:

No data

Variant related genes	Relation type
SAMD4B	TF binding region
ENSG00000114023	Chromatin interaction
ENSG00000269246	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000090924	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs40469	0.82[EUR][1000 genomes]
rs45591338	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45613331	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61736260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62122887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122891	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][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	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
4	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
5	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	esv10629	chr19:39811570-39886212	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv870133	chr19:39822160-39938468	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	233 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	chr19:39834000-39842400	Weak transcription	Gastric	stomach
2	chr19:39834200-39838400	Weak transcription	Ovary	ovary
3	chr19:39834200-39846600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:39834200-39859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:39834400-39838400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:39834400-39839800	Enhancers	Fetal Heart	heart
7	chr19:39834400-39840600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:39834400-39841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:39834400-39841800	Weak transcription	Lung	lung
10	chr19:39834400-39842000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:39834400-39842000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:39834400-39842000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:39834400-39842200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:39834400-39842200	Weak transcription	Esophagus	oesophagus
15	chr19:39834400-39842400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:39834400-39844600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:39834400-39845400	Weak transcription	Fetal Kidney	kidney
18	chr19:39834400-39849200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr19:39834600-39838600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:39834600-39838600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:39834600-39838600	Weak transcription	NHEK	skin
22	chr19:39834600-39838800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:39834600-39842400	Weak transcription	Colonic Mucosa	Colon
24	chr19:39834600-39842400	Weak transcription	HMEC	breast
25	chr19:39834800-39839000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:39834800-39839200	Genic enhancers	Brain Hippocampus Middle	brain
27	chr19:39834800-39842400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:39834800-39847400	Weak transcription	Small Intestine	intestine
29	chr19:39834800-39852800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:39834800-39852800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr19:39834800-39880000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:39835000-39844600	Weak transcription	Stomach Mucosa	stomach
33	chr19:39835000-39846000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:39835200-39839200	Genic enhancers	Dnd41	blood
35	chr19:39835400-39839200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:39835400-39839800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:39835600-39838600	Genic enhancers	NHLF	lung
38	chr19:39835600-39839200	Enhancers	Right Atrium	heart
39	chr19:39835600-39853600	Strong transcription	Placenta	Placenta
40	chr19:39835800-39841200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr19:39835800-39880200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:39835800-39880200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr19:39836000-39840200	Genic enhancers	NHDF-Ad	bronchial
44	chr19:39836000-39847600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:39836200-39838400	Genic enhancers	Brain Inferior Temporal Lobe	brain
46	chr19:39836200-39838800	Enhancers	Brain Angular Gyrus	brain
47	chr19:39836200-39839000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:39836200-39842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:39836200-39842800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:39836200-39880400	Strong transcription	Primary T cells from cord blood	blood

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