Variant report

Variant	rs72851686
Chromosome Location	chr11:10350631-10350632
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	GATA3	chr11:10350368-10350827	MCF-7	breast:	n/a	n/a
2	BRCA1	chr11:10350392-10350814	Hela-S3	cervix:	n/a	n/a
3	EP300	chr11:10350365-10350741	Hela-S3	cervix:	n/a	chr11:10350399-10350412
4	TCF7L2	chr11:10350394-10350767	Hela-S3	cervix:	n/a	n/a
5	EP300	chr11:10350348-10350730	SK-N-SH_RA	brain:	n/a	chr11:10350399-10350412
6	FOS	chr11:10350379-10350708	Hela-S3	cervix:	n/a	n/a
7	MAFK	chr11:10349915-10350771	Hela-S3	cervix:	n/a	chr11:10349961-10349975 chr11:10349965-10349981
8	FOSL2	chr11:10349847-10350677	SK-N-SH	brain:	n/a	n/a
9	KAP1	chr11:10349924-10350673	U2OS	brain:	n/a	n/a
10	POLR2A	chr11:10350294-10350741	HUVEC	blood vessel:	n/a	n/a
11	RCOR1	chr11:10350469-10350681	K562	blood:	n/a	n/a
12	POLR2A	chr11:10349819-10350832	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:10349822-10350789	HUVEC	blood vessel:	n/a	n/a
14	GATA3	chr11:10349867-10350932	SK-N-SH	brain:	n/a	n/a
15	GATA2	chr11:10349834-10350848	HUVEC	blood vessel:	n/a	chr11:10350579-10350593
16	MYC	chr11:10350369-10350774	Hela-S3	cervix:	n/a	n/a
17	JUN	chr11:10349966-10350700	HUVEC	blood vessel:	n/a	n/a
18	GATA3	chr11:10350286-10350828	MCF-7	breast:	n/a	n/a
19	EP300	chr11:10349820-10350891	SK-N-SH	brain:	n/a	chr11:10350399-10350412
20	TCF12	chr11:10349952-10350888	SK-N-SH	brain:	n/a	n/a
21	RCOR1	chr11:10350179-10350756	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:10350361-10350776	SK-N-SH	brain:	n/a	n/a
23	MAX	chr11:10350121-10350839	Hela-S3	cervix:	n/a	n/a
24	EP300	chr11:10350328-10350814	SK-N-SH_RA	brain:	n/a	chr11:10350399-10350412
25	GATA3	chr11:10349748-10350945	SK-N-SH	brain:	n/a	n/a
26	PBX3	chr11:10349876-10350870	SK-N-SH	brain:	n/a	n/a
27	CEBPB	chr11:10350228-10350761	Hela-S3	cervix:	n/a	n/a
28	PBX3	chr11:10350436-10350800	SK-N-SH	brain:	n/a	n/a
29	STAT3	chr11:10350333-10350787	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr11:10349769-10351000	SK-N-SH	brain:	n/a	n/a
31	YY1	chr11:10350261-10350639	SK-N-SH_RA	brain:	n/a	n/a
32	RXRA	chr11:10349793-10350860	SK-N-SH	brain:	n/a	n/a
33	FOS	chr11:10349903-10350687	HUVEC	blood vessel:	n/a	n/a
34	PRDM1	chr11:10350429-10350767	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10328338..10330895-chr11:10349189..10351811,2	MCF-7	breast:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11822548	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824642	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294511	1.00[AFR][1000 genomes]
rs17295800	0.80[AMR][1000 genomes]
rs17295954	0.80[AMR][1000 genomes]
rs17361849	0.80[AMR][1000 genomes]
rs17368443	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17368498	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1806908	1.00[ASN][1000 genomes]
rs2015150	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920154	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55650476	0.80[AMR][1000 genomes]
rs55678570	0.80[AMR][1000 genomes]
rs55771749	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55868496	0.80[AMR][1000 genomes]
rs56262739	0.87[ASN][1000 genomes]
rs56726683	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57189777	1.00[ASN][1000 genomes]
rs59235070	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60502169	1.00[ASN][1000 genomes]
rs60743731	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850426	0.80[AMR][1000 genomes]
rs72850434	0.80[AMR][1000 genomes]
rs72850453	0.80[AMR][1000 genomes]
rs72850480	0.80[AMR][1000 genomes]
rs72851606	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72851620	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72851647	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851667	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852812	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852835	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852843	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10342800-10351600	Enhancers	Adipose Nuclei	Adipose
2	chr11:10343200-10351000	Enhancers	Stomach Mucosa	stomach
3	chr11:10343400-10353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:10344000-10351600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:10344000-10353200	Enhancers	NH-A	brain
6	chr11:10344000-10353400	Enhancers	Osteobl	bone
7	chr11:10344400-10351600	Enhancers	Ovary	ovary
8	chr11:10344600-10351000	Enhancers	Colon Smooth Muscle	Colon
9	chr11:10344600-10353200	Enhancers	Hela-S3	cervix
10	chr11:10344600-10353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:10345600-10354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:10347200-10351600	Enhancers	Fetal Intestine Large	intestine
13	chr11:10347200-10353600	Enhancers	NHDF-Ad	bronchial
14	chr11:10347600-10351600	Enhancers	Fetal Intestine Small	intestine
15	chr11:10347800-10351000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:10347800-10351000	Enhancers	Placenta	Placenta
17	chr11:10348000-10350800	Enhancers	HepG2	liver
18	chr11:10348000-10351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:10348200-10353200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:10348200-10353400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:10348200-10370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:10348400-10351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:10348400-10353200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr11:10348600-10351000	Weak transcription	Lung	lung
25	chr11:10348600-10351000	Enhancers	A549	lung
26	chr11:10348800-10350800	Enhancers	Brain Hippocampus Middle	brain
27	chr11:10349000-10351000	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:10349000-10351600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:10349400-10350800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:10349400-10351000	Enhancers	Right Atrium	heart
31	chr11:10349400-10352000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:10349600-10350800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:10349800-10350800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:10349800-10350800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:10349800-10350800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:10349800-10351000	Enhancers	HSMMtube	muscle
37	chr11:10349800-10351200	Enhancers	HSMM	muscle
38	chr11:10349800-10352200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:10349800-10352400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:10350000-10350800	Enhancers	Fetal Lung	lung
41	chr11:10350000-10350800	Enhancers	HMEC	breast
42	chr11:10350000-10351000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr11:10350000-10352400	Enhancers	NHEK	skin
44	chr11:10350200-10350800	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:10350200-10350800	Enhancers	Brain Anterior Caudate	brain
46	chr11:10350200-10350800	Enhancers	Stomach Smooth Muscle	stomach
47	chr11:10350600-10351000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:10350600-10351400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:10350600-10352400	Weak transcription	Small Intestine	intestine
50	chr11:10350600-10352400	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links