Variant report

Variant	rs8062024
Chromosome Location	chr16:75499357-75499358
allele	A/G
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:11)
LncRNA
region (count:1)
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	CTCF	chr16:75497940-75499705	A549	lung:	n/a	chr16:75498126-75498139

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75497125..75499382-chr16:75564750..75566395,2	MCF-7	breast:
2	chr16:75495533..75500726-chr16:75509549..75515784,9	MCF-7	breast:
3	chr16:75465991..75469604-chr16:75494524..75499996,12	MCF-7	breast:
4	chr16:75497166..75499836-chr16:75598619..75601609,5	MCF-7	breast:
5	chr16:75492483..75495341-chr16:75495841..75499470,4	K562	blood:
6	chr16:75497738..75499769-chr16:75549161..75551267,4	MCF-7	breast:
7	chr16:75495991..75500241-chr16:75679416..75683319,6	MCF-7	breast:
8	chr16:75496858..75499850-chr16:75589381..75591063,2	K562	blood:
9	chr16:75496672..75499382-chr16:75549463..75551344,4	MCF-7	breast:
10	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:
11	chr16:75181464..75183944-chr16:75497097..75499788,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-77K12.1.1-1	chr16:75499272-75499391	XLOC_012010

No data

Variant related genes	Relation type
TMEM170A	TF binding region
ENSG00000261717	TF binding region
ENSG00000034713	Chromatin interaction
ENSG00000184517	Chromatin interaction
ENSG00000203472	Chromatin interaction
ENSG00000261476	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000135702	Chromatin interaction
ENSG00000205084	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs247453	1.00[EUR][1000 genomes]
rs37591	1.00[EUR][1000 genomes]
rs72787197	1.00[EUR][1000 genomes]
rs72789430	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS 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	57 gene(s)	inside rSNPs	diseases
10	esv3437619	chr16:75496876-75499424	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
11	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75497800-75499400	Active TSS	Fetal Brain Female	brain
2	chr16:75498600-75506800	Weak transcription	Brain Substantia Nigra	brain
3	chr16:75498600-75511800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:75498800-75499400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr16:75498800-75500000	Weak transcription	Right Atrium	heart
6	chr16:75498800-75501600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr16:75498800-75502200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr16:75498800-75504000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:75498800-75505200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:75498800-75505600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:75498800-75505600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr16:75498800-75507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:75498800-75518600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:75499000-75499400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr16:75499000-75499400	Enhancers	Brain Cingulate Gyrus	brain
16	chr16:75499000-75499600	Enhancers	GM12878-XiMat	blood
17	chr16:75499000-75511000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:75499000-75511200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:75499000-75511200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:75499200-75499400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr16:75499200-75499400	Enhancers	Fetal Brain Male	brain
22	chr16:75499200-75499400	Enhancers	Hela-S3	cervix
23	chr16:75499200-75499600	Enhancers	HepG2	liver
24	chr16:75499200-75502400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr16:75499200-75505800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:75499200-75505800	Weak transcription	Fetal Heart	heart
27	chr16:75499200-75506000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:75499200-75506200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr16:75499200-75511400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:75499200-75511400	Weak transcription	Brain Anterior Caudate	brain
31	chr16:75499200-75519600	Weak transcription	Fetal Intestine Small	intestine

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