Variant report

Variant	rs1211265
Chromosome Location	chr19:42820321-42820322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr19:42820198-42820370	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42818986..42821059-chr19:42827950..42829630,2	MCF-7	breast:
2	chr19:42819448..42823717-chr19:42824551..42827641,3	MCF-7	breast:
3	chr19:42818633..42820547-chr19:42829243..42831699,2	MCF-7	breast:
4	chr19:42820314..42823687-chr19:42826529..42830552,5	K562	blood:
5	chr19:42820314..42825247-chr19:42826529..42830814,5	K562	blood:

No data

Variant related genes	Relation type
TMEM145	TF binding region
ENSG00000105429	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10410185	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10410198	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10410698	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10412833	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426306	0.90[ASN][1000 genomes]
rs10426310	0.90[ASN][1000 genomes]
rs11557114	0.82[ASN][1000 genomes]
rs11878620	0.82[ASN][1000 genomes]
rs11882654	0.90[ASN][1000 genomes]
rs1206009	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206027	0.89[EUR][1000 genomes]
rs1206029	0.85[EUR][1000 genomes]
rs1206031	0.85[EUR][1000 genomes]
rs1206033	0.83[EUR][1000 genomes]
rs1206035	0.89[EUR][1000 genomes]
rs1206038	0.89[EUR][1000 genomes]
rs1206040	0.89[EUR][1000 genomes]
rs1206041	0.89[EUR][1000 genomes]
rs1206042	0.89[EUR][1000 genomes]
rs1206043	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1206044	0.89[EUR][1000 genomes]
rs1209280	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13346991	0.89[EUR][1000 genomes]
rs1613100	0.87[EUR][1000 genomes]
rs1654623	0.87[EUR][1000 genomes]
rs1676211	0.89[EUR][1000 genomes]
rs1676213	0.87[EUR][1000 genomes]
rs1676214	0.83[EUR][1000 genomes]
rs1676215	0.87[EUR][1000 genomes]
rs1676217	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676220	0.89[EUR][1000 genomes]
rs1676221	0.89[EUR][1000 genomes]
rs1685565	0.85[EUR][1000 genomes]
rs2302485	0.82[ASN][1000 genomes]
rs2537697	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615614	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537976	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28621009	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34922891	0.85[EUR][1000 genomes]
rs35493131	0.82[ASN][1000 genomes]
rs35557987	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3810148	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4141062	0.86[ASN][1000 genomes]
rs57938324	0.90[ASN][1000 genomes]
rs61995685	0.85[EUR][1000 genomes]
rs7255956	0.89[EUR][1000 genomes]
rs7258795	0.90[ASN][1000 genomes]
rs7260287	0.89[EUR][1000 genomes]
rs73552881	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73552895	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs741070	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs851292	0.85[EUR][1000 genomes]
rs851293	0.85[EUR][1000 genomes]
rs851296	0.87[EUR][1000 genomes]
rs851612	0.86[ASN][1000 genomes]
rs851615	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs862228	0.89[EUR][1000 genomes]
rs865436	0.89[EUR][1000 genomes]
rs9636121	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
6	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42814600-42821200	Enhancers	Fetal Brain Male	brain
2	chr19:42818000-42828600	Weak transcription	Right Atrium	heart
3	chr19:42818200-42828600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:42818200-42828800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:42818200-42829200	Weak transcription	Gastric	stomach
6	chr19:42818400-42820600	Weak transcription	K562	blood
7	chr19:42818400-42821000	Weak transcription	Brain Anterior Caudate	brain
8	chr19:42818400-42828800	Weak transcription	Brain Angular Gyrus	brain
9	chr19:42818800-42820600	Weak transcription	Spleen	Spleen
10	chr19:42818800-42828800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:42819000-42820600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:42819000-42820600	Weak transcription	Brain Germinal Matrix	brain
13	chr19:42819000-42827400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:42819000-42828400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:42819600-42820600	Enhancers	HepG2	liver
16	chr19:42819600-42821600	Weak transcription	Fetal Brain Female	brain

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