Variant report

Variant	rs9930631
Chromosome Location	chr16:70838998-70838999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr16:70838782-70839191	K562	blood:	n/a	n/a
2	PML	chr16:70838460-70839160	K562	blood:	n/a	n/a
3	GTF2B	chr16:70838805-70839204	K562	blood:	n/a	n/a
4	POLR2A	chr16:70838586-70839106	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr16:70838838-70839152	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr16:70838463-70839098	K562	blood:	n/a	n/a
7	TBP	chr16:70838899-70839144	GM12878	blood:	n/a	n/a
8	TAF7	chr16:70838659-70839212	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr16:70838529-70839062	K562	blood:	n/a	n/a
10	POLR2A	chr16:70838714-70839010	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:70838552-70839064	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr16:70838489-70839124	K562	blood:	n/a	n/a
13	EP300	chr16:70838888-70839152	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:70837991-70839164	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr16:70837373-70839166	IMR90	lung:	n/a	n/a
16	BCLAF1	chr16:70838550-70839049	K562	blood:	n/a	n/a
17	POLR2A	chr16:70838635-70839148	H1-hESC	embryonic stem cell:	n/a	n/a
18	HEY1	chr16:70838534-70839079	K562	blood:	n/a	n/a
19	POLR2A	chr16:70838509-70839287	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:70838457-70839116	K562	blood:	n/a	n/a
21	TAF7	chr16:70838653-70839134	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr16:70837940-70839483	U87	brain:	n/a	n/a
23	PML	chr16:70838633-70839086	K562	blood:	n/a	n/a
24	POLR2A	chr16:70837948-70839455	U87	brain:	n/a	n/a
25	POLR2A	chr16:70838688-70839017	GM12891	blood:	n/a	n/a
26	POLR2A	chr16:70838535-70839117	HCT-116	colon:	n/a	n/a
27	POLR2A	chr16:70838423-70839145	GM12892	blood:	n/a	n/a
28	GTF2F1	chr16:70838888-70839119	K562	blood:	n/a	n/a
29	POLR2A	chr16:70838689-70839025	Raji	blood:	n/a	n/a
30	HEY1	chr16:70838389-70839159	K562	blood:	n/a	n/a
31	TAF7	chr16:70838515-70839114	K562	blood:	n/a	n/a
32	POLR2A	chr16:70838486-70839080	K562	blood:	n/a	n/a
33	POLR2A	chr16:70838431-70839062	GM12892	blood:	n/a	n/a
34	POLR2A	chr16:70838539-70839067	K562	blood:	n/a	n/a
35	ZMIZ1	chr16:70838761-70839024	K562	blood:	n/a	n/a
36	POLR2A	chr16:70838117-70839058	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr16:70837998-70839393	U87	brain:	n/a	n/a
38	POLR2A	chr16:70838018-70839524	U87	brain:	n/a	n/a
39	GTF2F1	chr16:70838881-70839070	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr16:70838472-70839043	K562	blood:	n/a	n/a
41	POLR2A	chr16:70838492-70839088	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr16:70838533-70839155	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr16:70838381-70839147	HUVEC	blood vessel:	n/a	n/a
44	TAF7	chr16:70838703-70839037	K562	blood:	n/a	n/a
45	TBP	chr16:70838819-70839189	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:70837606..70840340-chr16:70840352..70843516,3	K562	blood:
2	chr16:70825135..70827215-chr16:70837537..70839567,2	K562	blood:
3	chr16:70834111..70836791-chr16:70838673..70840669,3	MCF-7	breast:
4	chr16:70838203..70840751-chr16:70840809..70843253,2	MCF-7	breast:
5	chr16:70838196..70839919-chr16:71532691..71534833,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL34-3	chr16:70838337-70840039	ENSG00000251103
2	lnc-VAC14-1	chr16:70838536-70840039	NONHSAT143450

No data

Variant related genes	Relation type
ENSG00000262890	TF binding region
VAC14	TF binding region
ENSG00000103043	Chromatin interaction
ENSG00000262890	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13332036	0.98[AFR][1000 genomes]
rs13332988	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338727	0.93[AFR][1000 genomes]
rs1774530	1.00[AMR][1000 genomes]
rs1774533	1.00[AMR][1000 genomes]
rs28431907	0.93[AFR][1000 genomes]
rs28588204	1.00[AFR][1000 genomes]
rs28700881	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3897885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57723102	0.94[AFR][1000 genomes]
rs58608855	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59236367	0.90[AFR][1000 genomes]
rs59924713	0.86[AFR][1000 genomes]
rs60401477	0.98[AFR][1000 genomes]
rs60505367	0.98[AFR][1000 genomes]
rs9302616	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922335	0.93[AFR][1000 genomes]
rs9934901	1.00[AMR][1000 genomes]
rs9938861	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70835600-70842800	Weak transcription	Brain Anterior Caudate	brain
2	chr16:70835800-70839200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:70837600-70839200	Enhancers	Placenta	Placenta
4	chr16:70837600-70839600	Enhancers	HSMMtube	muscle
5	chr16:70837600-70840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:70837600-70841000	Enhancers	HMEC	breast
7	chr16:70837800-70840400	Enhancers	NHLF	lung
8	chr16:70838000-70839400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:70838000-70839400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr16:70838000-70839400	Flanking Active TSS	Osteobl	bone
11	chr16:70838000-70839800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:70838000-70840400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:70838000-70840400	Enhancers	NHDF-Ad	bronchial
14	chr16:70838000-70840600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:70838400-70840400	Enhancers	NHEK	skin
16	chr16:70838600-70839200	Flanking Active TSS	NH-A	brain
17	chr16:70838600-70839400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr16:70838600-70840600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:70838600-70840600	Enhancers	HSMM	muscle
20	chr16:70838600-70840600	Enhancers	HUVEC	blood vessel
21	chr16:70838800-70839000	Flanking Active TSS	Hela-S3	cervix
22	chr16:70838800-70840400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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