Variant report

Variant	rs72855716
Chromosome Location	chr1:9836556-9836557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:9836367-9836606	Hela-S3	cervix:	n/a	chr1:9836494-9836505
2	CEBPB	chr1:9836338-9836671	HepG2	liver:	n/a	chr1:9836494-9836505
3	CEBPB	chr1:9836320-9836639	K562	blood:	n/a	chr1:9836494-9836505
4	CEBPB	chr1:9836357-9836682	A549	lung:	n/a	chr1:9836494-9836505
5	TCF7L2	chr1:9836351-9836660	HEK293	kidney:	n/a	n/a
6	CEBPB	chr1:9836317-9836686	IMR90	lung:	n/a	chr1:9836494-9836505
7	CEBPB	chr1:9836193-9836726	ECC-1	luminal epithelium:	n/a	chr1:9836494-9836505
8	CEBPB	chr1:9836357-9836621	A549	lung:	n/a	chr1:9836494-9836505
9	CEBPB	chr1:9836428-9836607	A549	lung:	n/a	chr1:9836494-9836505
10	FOXA1	chr1:9836234-9836594	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr1:9836317-9836727	ECC-1	luminal epithelium:	n/a	chr1:9836494-9836505
12	POLR2A	chr1:9836203-9836614	SK-N-MC	brain:	n/a	n/a
13	CEBPB	chr1:9836324-9836686	K562	blood:	n/a	chr1:9836494-9836505
14	CEBPB	chr1:9836436-9836642	H1-hESC	embryonic stem cell:	n/a	chr1:9836494-9836505

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9834329..9836774-chr1:9865219..9869770,4	K562	blood:
2	chr1:9836345..9837855-chr1:9905780..9908681,2	K562	blood:

Variant related genes	Relation type
ENSG00000271264	TF binding region
ENSG00000223989	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10779730	0.94[ASN][1000 genomes]
rs10779731	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10864437	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10864438	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121489	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11121490	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11121492	0.82[EUR][1000 genomes]
rs11121493	0.89[EUR][1000 genomes]
rs11674	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11804356	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11806520	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12021914	0.96[ASN][1000 genomes]
rs12034239	0.86[EUR][1000 genomes]
rs12047054	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12064975	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12078414	0.93[EUR][1000 genomes]
rs12087051	0.89[EUR][1000 genomes]
rs12088273	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1220419	0.86[ASN][1000 genomes]
rs1228434	0.89[EUR][1000 genomes]
rs12568720	0.94[ASN][1000 genomes]
rs12569008	0.94[ASN][1000 genomes]
rs1615629	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1631962	0.88[EUR][1000 genomes]
rs1660741	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1660742	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17034335	0.82[EUR][1000 genomes]
rs17034340	0.82[EUR][1000 genomes]
rs1767277	0.93[EUR][1000 genomes]
rs2788605	0.84[EUR][1000 genomes]
rs4512653	0.96[ASN][1000 genomes]
rs4585981	0.84[EUR][1000 genomes]
rs4845975	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56109009	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57560942	0.89[EUR][1000 genomes]
rs59729812	0.89[EUR][1000 genomes]
rs6699320	0.84[EUR][1000 genomes]
rs72855733	0.82[EUR][1000 genomes]
rs72855735	0.84[EUR][1000 genomes]
rs72855745	0.89[EUR][1000 genomes]
rs72855747	0.89[EUR][1000 genomes]
rs7526958	0.92[ASN][1000 genomes]
rs7550246	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs767762	0.93[EUR][1000 genomes]
rs935071	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv2298	chr1:9826286-9857487	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801200-9837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
3	chr1:9804400-9836600	Weak transcription	Small Intestine	intestine
4	chr1:9804600-9836600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
6	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
7	chr1:9816600-9842400	Weak transcription	HUVEC	blood vessel
8	chr1:9822200-9844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:9824200-9846800	Weak transcription	Spleen	Spleen
10	chr1:9827200-9836600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:9827400-9852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:9828200-9844600	Weak transcription	NH-A	brain
13	chr1:9829400-9842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:9829800-9842000	Weak transcription	Hela-S3	cervix
15	chr1:9833000-9840800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:9833000-9848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:9833200-9836600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:9833200-9840800	Weak transcription	Brain Anterior Caudate	brain
19	chr1:9833200-9844400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:9833400-9836600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:9833400-9836600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:9833400-9836600	Weak transcription	HSMM	muscle
23	chr1:9833400-9836600	Weak transcription	NHLF	lung
24	chr1:9833400-9837000	Weak transcription	Pancreas	Pancrea
25	chr1:9833400-9837800	Weak transcription	Lung	lung
26	chr1:9833400-9838200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:9833400-9838200	Weak transcription	Gastric	stomach
28	chr1:9833400-9838600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:9833400-9839200	Weak transcription	GM12878-XiMat	blood
30	chr1:9833400-9840800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:9833400-9840800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:9833400-9842000	Weak transcription	A549	lung
33	chr1:9833400-9843000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:9833400-9844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:9833400-9844400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:9833400-9844400	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:9833400-9844600	Weak transcription	Primary B cells from cord blood	blood
38	chr1:9833400-9845400	Weak transcription	Colonic Mucosa	Colon
39	chr1:9833400-9845600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:9833400-9846400	Weak transcription	Thymus	Thymus
41	chr1:9833400-9846600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:9833400-9846800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:9833400-9846800	Weak transcription	Primary T cells from cord blood	blood
44	chr1:9833400-9846800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:9833400-9846800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:9833400-9846800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:9833400-9846800	Weak transcription	Esophagus	oesophagus
48	chr1:9833400-9846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:9833400-9847000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:9833400-9848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links