Variant report

Variant	rs16832965
Chromosome Location	chr1:151029515-151029516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151027735-151029650	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:151019747-151029675	K562	blood:	n/a	n/a
3	POLR2A	chr1:151029021-151029672	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:151023510-151029710	K562	blood:	n/a	n/a
5	POLR2A	chr1:151027701-151029673	GM12892	blood:	n/a	n/a
6	POLR2A	chr1:151028996-151029610	GM12891	blood:	n/a	n/a
7	GATA3	chr1:151028531-151029549	MCF-7	breast:	n/a	chr1:151028903-151028914
8	WRNIP1	chr1:151029027-151029627	GM12878	blood:	n/a	n/a
9	MAX	chr1:151028826-151029672	MCF-7	breast:	n/a	n/a
10	HEY1	chr1:151029044-151029516	K562	blood:	n/a	n/a
11	MYC	chr1:151028519-151029539	K562	blood:	n/a	chr1:151028701-151028711
12	POLR2A	chr1:151021903-151029745	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:151028987-151029529	GM12892	blood:	n/a	n/a
14	POLR2A	chr1:151027220-151029690	K562	blood:	n/a	n/a
15	NR2F2	chr1:151029209-151029942	K562	blood:	n/a	n/a
16	POLR2A	chr1:151028399-151029645	K562	blood:	n/a	n/a
17	POLR2A	chr1:151028571-151029733	K562	blood:	n/a	n/a
18	POLR2A	chr1:151028371-151029658	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:151028179-151029534	GM12878	blood:	n/a	n/a
20	MAX	chr1:151028974-151029550	K562	blood:	n/a	n/a
21	POLR2A	chr1:151028548-151029567	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:151027138-151029730	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:151005028..151012583-chr1:151026392..151034442,13	K562	blood:
2	chr1:150549378..150552816-chr1:151028901..151032004,3	K562	blood:
3	chr1:150950574..150954547-chr1:151027400..151032185,6	MCF-7	breast:
4	chr1:150980774..150986118-chr1:151028117..151032528,6	MCF-7	breast:
5	chr1:151029387..151032698-chr1:151136625..151139017,3	K562	blood:
6	chr1:150976723..150987587-chr1:151024685..151036322,24	MCF-7	breast:
7	chr1:150995254..150996854-chr1:151029340..151030988,2	MCF-7	breast:
8	chr1:151029301..151033715-chr1:151136820..151141213,5	MCF-7	breast:
9	chr1:151027474..151029846-chr1:151254006..151256082,2	MCF-7	breast:
10	chr1:150976003..150979092-chr1:151029150..151032179,4	K562	blood:

No data

Variant related genes	Relation type
MLLT11	TF binding region
ENSG00000163156	Chromatin interaction
ENSG00000200759	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143412	Chromatin interaction
ENSG00000163141	Chromatin interaction
ENSG00000232671	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11800088	1.00[AMR][1000 genomes]
rs11800715	1.00[AMR][1000 genomes]
rs11804061	1.00[AMR][1000 genomes]
rs11804474	1.00[AMR][1000 genomes]
rs11806302	1.00[AMR][1000 genomes]
rs11809569	1.00[AMR][1000 genomes]
rs11809979	1.00[AMR][1000 genomes]
rs11811310	1.00[AMR][1000 genomes]
rs16832968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832988	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833008	1.00[AMR][1000 genomes]
rs16833052	1.00[AMR][1000 genomes]
rs16833054	1.00[AMR][1000 genomes]
rs16833100	1.00[AMR][1000 genomes]
rs16833109	1.00[AMR][1000 genomes]
rs34570433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41445244	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151021200-151030400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:151021400-151030000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:151022000-151030000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:151022800-151029600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:151022800-151029600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:151023200-151029600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:151024200-151030000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:151024200-151030200	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr1:151026200-151031000	Weak transcription	Ovary	ovary
10	chr1:151026600-151029800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:151026800-151030800	Transcr. at gene 5' and 3'	K562	blood
12	chr1:151027200-151029800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
13	chr1:151027200-151032000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
14	chr1:151027400-151029600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
15	chr1:151027400-151030000	Genic enhancers	Placenta	Placenta
16	chr1:151027400-151030200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
17	chr1:151027600-151030400	Genic enhancers	Fetal Intestine Small	intestine
18	chr1:151027600-151030400	Genic enhancers	HepG2	liver
19	chr1:151027800-151029600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:151027800-151029600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
21	chr1:151027800-151029800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:151027800-151029800	Genic enhancers	Right Ventricle	heart
23	chr1:151027800-151030000	Genic enhancers	Colon Smooth Muscle	Colon
24	chr1:151027800-151030000	Enhancers	Right Atrium	heart
25	chr1:151027800-151030000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
26	chr1:151027800-151030200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
27	chr1:151028000-151029600	Genic enhancers	Lung	lung
28	chr1:151028000-151029600	Genic enhancers	Placenta Amnion	Placenta Amnion
29	chr1:151028000-151029600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
30	chr1:151028000-151030000	Genic enhancers	Fetal Muscle Leg	muscle
31	chr1:151028000-151030000	Genic enhancers	Osteobl	bone
32	chr1:151028000-151030400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:151028000-151030400	Genic enhancers	Pancreas	Pancrea
34	chr1:151028200-151029600	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
35	chr1:151028200-151030000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:151028200-151030000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:151028200-151030000	Genic enhancers	A549	lung
38	chr1:151028200-151030200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:151028200-151031200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:151028200-151031400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:151028400-151029600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr1:151028400-151029600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr1:151028400-151029600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:151028400-151030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:151028400-151030400	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
46	chr1:151028400-151031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:151028400-151031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:151028600-151029600	Transcr. at gene 5' and 3'	Dnd41	blood
49	chr1:151028600-151029600	Transcr. at gene 5' and 3'	Hela-S3	cervix
50	chr1:151028600-151029600	Genic enhancers	HSMMtube	muscle

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