Variant report

Variant	rs73835944
Chromosome Location	chr4:102271416-102271417
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	FOSL1	chr4:102270072-102271487	HCT-116	colon:	n/a	chr4:102271052-102271059 chr4:102271052-102271061
2	SP1	chr4:102270169-102271497	HCT-116	colon:	n/a	n/a
3	MXI1	chr4:102265923-102271471	SK-N-SH	brain:	n/a	n/a
4	TCF7L2	chr4:102270591-102271657	Hela-S3	cervix:	n/a	n/a
5	JUND	chr4:102270076-102271427	HCT-116	colon:	n/a	chr4:102271050-102271061 chr4:102271052-102271059 chr4:102271052-102271061
6	POLR2A	chr4:102266230-102271632	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:102269774..102272032-chr4:102277264..102279804,2	K562	blood:
2	chr4:102266931..102269669-chr4:102271103..102272777,2	K562	blood:
3	chr4:102249081..102251620-chr4:102269591..102272220,2	MCF-7	breast:

Variant related genes	Relation type
PPP3CA	TF binding region
ENSG00000138814	Chromatin interaction
ENSG00000254531	Chromatin interaction
ENSG00000221265	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1011849	0.86[AFR][1000 genomes]
rs11943655	0.82[AMR][1000 genomes]
rs11946103	0.82[AMR][1000 genomes]
rs1372243	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1372244	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1441431	0.82[AFR][1000 genomes]
rs1441434	0.82[AMR][1000 genomes]
rs1561722	0.81[AFR][1000 genomes]
rs17031168	0.86[AFR][1000 genomes]
rs17031172	0.82[AFR][1000 genomes]
rs17031175	0.82[AFR][1000 genomes]
rs17031176	0.82[AFR][1000 genomes]
rs17031180	0.82[AFR][1000 genomes]
rs17031182	0.82[AFR][1000 genomes]
rs2119598	0.84[AMR][1000 genomes]
rs3974659	0.82[AFR][1000 genomes]
rs4488940	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4504259	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4637408	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs55667372	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58629361	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59079781	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59224049	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59763039	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60438397	0.80[AFR][1000 genomes]
rs60984918	0.82[AFR][1000 genomes]
rs6532925	0.82[AFR][1000 genomes]
rs6532926	0.84[AFR][1000 genomes]
rs6810812	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6812094	0.82[AFR][1000 genomes]
rs6827528	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6828025	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6830390	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6831471	0.82[AFR][1000 genomes]
rs6832020	0.82[AFR][1000 genomes]
rs6834721	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6837858	0.82[AFR][1000 genomes]
rs6842191	0.82[AFR][1000 genomes]
rs6844844	0.86[AFR][1000 genomes]
rs6852282	0.82[AFR][1000 genomes]
rs73835916	0.82[AMR][1000 genomes]
rs73835923	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73835924	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73835931	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73835933	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73835934	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73835935	0.82[AFR][1000 genomes]
rs73835936	0.84[AFR][1000 genomes]
rs73835937	0.82[AFR][1000 genomes]
rs73835938	0.82[AFR][1000 genomes]
rs73835939	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73835940	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73835941	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73835943	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7655806	0.82[AMR][1000 genomes]
rs7661895	0.82[AFR][1000 genomes]
rs7664396	0.82[AFR][1000 genomes]
rs7671524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102270000-102271600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:102270000-102271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:102270000-102271600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:102270000-102276200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:102270000-102276600	Weak transcription	Ovary	ovary
6	chr4:102270000-102280800	Weak transcription	Aorta	Aorta
7	chr4:102270200-102271600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:102270200-102271600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:102270400-102271600	Enhancers	Stomach Mucosa	stomach
10	chr4:102270400-102271600	Enhancers	NHLF	lung
11	chr4:102270400-102271800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr4:102270400-102272200	Enhancers	HepG2	liver
13	chr4:102270600-102272000	Enhancers	A549	lung
14	chr4:102270600-102272000	Enhancers	HMEC	breast
15	chr4:102270800-102271600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:102270800-102271600	Enhancers	Hela-S3	cervix
17	chr4:102270800-102272200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:102271000-102272000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:102271000-102276000	Weak transcription	Primary B cells from cord blood	blood
20	chr4:102271400-102272000	Enhancers	NHEK	skin

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