Variant report

Variant	rs72893542
Chromosome Location	chr4:99815247-99815248
allele	C/T
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	POLR2A	chr4:99815239-99815276	MCF-7	breast:	n/a	n/a
2	POLR2A	chr4:99814770-99816031	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99618025..99620213-chr4:99815126..99816647,2	K562	blood:
2	chr4:99814286..99815884-chr4:99849314..99850925,2	MCF-7	breast:

Variant related genes	Relation type
EIF4E	TF binding region
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs6833875	1.00[AFR][1000 genomes]
rs6846054	0.95[AFR][1000 genomes]
rs72893508	0.82[AFR][1000 genomes]
rs72893532	1.00[AFR][1000 genomes]
rs72893536	1.00[AFR][1000 genomes]
rs72893550	1.00[AFR][1000 genomes]
rs72893554	1.00[AFR][1000 genomes]
rs72893558	1.00[AFR][1000 genomes]
rs72905040	1.00[AFR][1000 genomes]
rs72905051	1.00[AFR][1000 genomes]
rs72905078	1.00[AFR][1000 genomes]
rs72905084	1.00[AFR][1000 genomes]
rs72905087	0.82[AFR][1000 genomes]
rs72906974	0.95[AFR][1000 genomes]
rs72906977	0.95[AFR][1000 genomes]
rs72906984	0.95[AFR][1000 genomes]
rs72906987	0.95[AFR][1000 genomes]
rs72909404	0.86[AFR][1000 genomes]
rs72909452	0.82[AFR][1000 genomes]
rs72909467	0.82[AFR][1000 genomes]
rs7669447	0.82[AFR][1000 genomes]
rs7672509	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv822666	chr4:99813093-99817037	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv821288	chr4:99813093-99818986	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv819967	chr4:99813509-99817841	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv20331	chr4:99813534-99818241	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1000667	chr4:99813658-99817037	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1796045	chr4:99814879-99816349	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1835561	chr4:99814879-99816349	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1792671	chr4:99814879-99816751	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv1836018	chr4:99814879-99816751	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv1799034	chr4:99814879-99816938	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv1801936	chr4:99814879-99816938	Strong transcription Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1833834	chr4:99814879-99816938	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1839653	chr4:99814879-99816938	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv594943	chr4:99815127-99816751	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99792400-99825000	Weak transcription	Gastric	stomach
2	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
3	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:99798400-99823000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:99798600-99824400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:99799000-99823000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:99799800-99823200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:99800200-99823400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:99800400-99823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:99800600-99824200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr4:99801600-99829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:99802200-99824000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:99802600-99823800	Strong transcription	Fetal Thymus	thymus
14	chr4:99802600-99824400	Strong transcription	Dnd41	blood
15	chr4:99802800-99819600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:99802800-99824600	Weak transcription	Pancreas	Pancrea
17	chr4:99802800-99830200	Weak transcription	Ovary	ovary
18	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
19	chr4:99803000-99825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:99803200-99816000	Weak transcription	Stomach Mucosa	stomach
21	chr4:99803200-99824200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:99803400-99817400	Weak transcription	NHLF	lung
23	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
25	chr4:99804800-99816800	Strong transcription	HSMM	muscle
26	chr4:99804800-99820600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:99805000-99823200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:99805200-99832000	Weak transcription	Spleen	Spleen
29	chr4:99805800-99817200	Strong transcription	Osteobl	bone
30	chr4:99806000-99815800	Weak transcription	Small Intestine	intestine
31	chr4:99807200-99815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
33	chr4:99807400-99822000	Weak transcription	Hela-S3	cervix
34	chr4:99807400-99826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:99807600-99824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:99807800-99817800	Weak transcription	Lung	lung
37	chr4:99807800-99822200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:99807800-99822400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:99807800-99832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:99808000-99815800	Weak transcription	Fetal Intestine Small	intestine
41	chr4:99808000-99817400	Weak transcription	HSMMtube	muscle
42	chr4:99808000-99822000	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:99808200-99816000	Weak transcription	Brain Anterior Caudate	brain
45	chr4:99808400-99817400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:99808400-99817400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:99808400-99817400	Weak transcription	Fetal Stomach	stomach
48	chr4:99808400-99819200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:99808600-99821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:99808600-99822000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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