Variant report

Variant	rs8103222
Chromosome Location	chr19:39685869-39685870
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr19:39685867-39686039	K562	blood:	n/a	n/a
2	ZNF143	chr19:39685650-39685912	K562	blood:	n/a	n/a
3	RCOR1	chr19:39685582-39685875	K562	blood:	n/a	n/a
4	GATA2	chr19:39685770-39686088	SH-SY5Y	brain:	n/a	n/a
5	MXI1	chr19:39685559-39686265	SK-N-SH	brain:	n/a	chr19:39686059-39686074 chr19:39686057-39686072
6	ELF1	chr19:39685827-39686173	K562	blood:	n/a	chr19:39685983-39685996
7	CEBPB	chr19:39685745-39686013	Hela-S3	cervix:	n/a	n/a
8	ESR1	chr19:39685713-39686040	ECC-1	luminal epithelium:	n/a	n/a
9	ZNF143	chr19:39685706-39685889	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39677174..39681975-chr19:39683439..39687085,6	MCF-7	breast:
2	chr19:39683585..39686543-chr19:39818875..39821716,2	MCF-7	breast:
3	chr19:39521369..39524252-chr19:39683910..39686549,2	MCF-7	breast:
4	chr19:39645920..39648679-chr19:39684558..39687537,2	MCF-7	breast:
5	chr19:39615742..39618240-chr19:39683167..39686406,3	MCF-7	breast:
6	chr19:39684528..39687372-chr19:39688107..39690948,3	MCF-7	breast:
7	chr19:39676778..39680967-chr19:39681960..39686095,4	K562	blood:

No data

Variant related genes	Relation type
NCCRP1	TF binding region
ENSG00000130669	Chromatin interaction
ENSG00000161243	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11083511	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083512	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083513	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668945	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11672471	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11672475	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11672479	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11672787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12462614	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12609028	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609203	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12610064	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12610093	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12610618	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974792	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12976040	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808652	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2013626	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2319154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319156	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2873914	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58016205	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58278424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7508321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104935	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8106521	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs892016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	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
3	esv1796470	chr19:39679379-39714631	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	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	chr19:39657800-39687600	Weak transcription	Right Atrium	heart
2	chr19:39678600-39687400	Weak transcription	Spleen	Spleen
3	chr19:39683800-39686600	Weak transcription	HMEC	breast
4	chr19:39684400-39686000	Enhancers	Hela-S3	cervix
5	chr19:39684800-39686000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:39684800-39686400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:39684800-39686600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:39685000-39686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:39685000-39690000	Enhancers	A549	lung
10	chr19:39685400-39686400	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr19:39685400-39686400	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr19:39685400-39687600	Enhancers	Pancreas	Pancrea
13	chr19:39685400-39688800	Bivalent Enhancer	Placenta	Placenta
14	chr19:39685600-39686200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr19:39685600-39686800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:39685600-39686800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr19:39685600-39688000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:39685600-39688200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
19	chr19:39685600-39688200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr19:39685600-39688200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr19:39685800-39686000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:39685800-39686000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
23	chr19:39685800-39686000	Active TSS	Esophagus	oesophagus
24	chr19:39685800-39686000	Bivalent Enhancer	NH-A	brain
25	chr19:39685800-39686200	Enhancers	K562	blood
26	chr19:39685800-39686400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr19:39685800-39686400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr19:39685800-39686600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:39685800-39686600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr19:39685800-39686600	Enhancers	NHEK	skin
31	chr19:39685800-39686800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:39685800-39687000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:39685800-39687000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr19:39685800-39687200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:39685800-39687400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr19:39685800-39687400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:39685800-39688200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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