Variant report

Variant	rs73152146
Chromosome Location	chr5:96269097-96269098
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	chr5:96268968-96273188	GM12878	blood:	n/a	n/a
2	CHD1	chr5:96267264-96273025	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:96269090-96273351	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:96267158-96273083	GM12878	blood:	n/a	n/a
5	NFATC1	chr5:96269097-96271957	GM12878	blood:	n/a	n/a
6	NFIC	chr5:96266924-96269107	GM12878	blood:	n/a	n/a
7	MTA3	chr5:96269032-96271945	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:96268644-96272934	GM12892	blood:	n/a	n/a
9	GATA1	chr5:96267929-96269867	PBDE	blood:	n/a	chr5:96268501-96268511 chr5:96268719-96268740
10	PML	chr5:96266960-96273172	GM12878	blood:	n/a	n/a
11	ZNF384	chr5:96268617-96269442	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:96268950-96269124	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:96269078-96273100	GM12891	blood:	n/a	n/a
14	POLR2A	chr5:96268685-96273087	GM12891	blood:	n/a	n/a
15	POLR2A	chr5:96268814-96273013	Raji	blood:	n/a	n/a
16	POLR2A	chr5:96268990-96273112	GM12891	blood:	n/a	n/a
17	GATA1	chr5:96267043-96269474	K562	blood:	n/a	chr5:96268501-96268511 chr5:96268719-96268740
18	RELA	chr5:96269090-96271931	GM18505	blood:	n/a	chr5:96271574-96271583 chr5:96271574-96271583
19	POLR2A	chr5:96268587-96273078	GM18505	blood:	n/a	n/a
20	POLR2A	chr5:96268807-96273159	GM12878	blood:	n/a	n/a
21	ZNF384	chr5:96268346-96269097	K562	blood:	n/a	n/a
22	POLR2A	chr5:96268818-96273031	GM12878	blood:	n/a	n/a
23	HMGN3	chr5:96268584-96269129	K562	blood:	n/a	n/a
24	POLR2A	chr5:96268850-96273070	GM12892	blood:	n/a	n/a
25	WRNIP1	chr5:96269012-96269232	GM12878	blood:	n/a	n/a
26	MTA3	chr5:96268487-96273163	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96267069..96273023-chr5:96293959..96302488,9	K562	blood:
2	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
3	chr5:96268592..96270496-chr5:96515475..96517242,2	MCF-7	breast:
4	chr5:96268234..96272758-chr5:96290815..96294670,4	K562	blood:
5	chr5:96087767..96089736-chr5:96268436..96270992,2	MCF-7	breast:
6	chr5:96268127..96270774-chr5:96299213..96300719,2	K562	blood:
7	chr5:96268279..96270263-chr5:96284683..96286210,2	K562	blood:
8	chr5:96141925..96145850-chr5:96265867..96272606,9	K562	blood:
9	chr5:96268650..96270760-chr5:96289002..96291090,2	MCF-7	breast:

Variant related genes	Relation type
LNPEP	TF binding region
ENSG00000113441	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000200884	Chromatin interaction
ENSG00000164308	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs60561288	1.00[AMR][1000 genomes]
rs60603456	0.87[AFR][1000 genomes]
rs60878093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135403	1.00[AMR][1000 genomes]
rs73150385	1.00[AMR][1000 genomes]
rs73152130	1.00[AMR][1000 genomes]
rs73152143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152153	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152158	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73152163	1.00[AMR][1000 genomes]
rs7715183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
2	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
3	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
4	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:96246000-96270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:96249800-96270000	Weak transcription	Lung	lung
7	chr5:96257400-96269600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:96260200-96269400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:96264000-96269200	Enhancers	Fetal Heart	heart
10	chr5:96265000-96270000	Weak transcription	Pancreas	Pancrea
11	chr5:96265400-96270000	Weak transcription	Left Ventricle	heart
12	chr5:96266000-96269400	Enhancers	Placenta	Placenta
13	chr5:96266000-96269400	Weak transcription	Right Ventricle	heart
14	chr5:96266600-96269200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:96267000-96269600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:96267000-96269600	Enhancers	Fetal Lung	lung
17	chr5:96267200-96269400	Enhancers	Adipose Nuclei	Adipose
18	chr5:96267400-96269200	Enhancers	Brain Anterior Caudate	brain
19	chr5:96267600-96269200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:96267600-96269200	Weak transcription	Stomach Mucosa	stomach
21	chr5:96267600-96270400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr5:96267800-96269200	Active TSS	Duodenum Mucosa	Duodenum
23	chr5:96267800-96269200	Enhancers	Fetal Intestine Large	intestine
24	chr5:96267800-96269400	Enhancers	HUVEC	blood vessel
25	chr5:96267800-96270000	Flanking Active TSS	Dnd41	blood
26	chr5:96267800-96270200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:96267800-96270400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr5:96267800-96270600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:96268000-96269200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:96268000-96269200	Weak transcription	Right Atrium	heart
31	chr5:96268200-96269200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr5:96268200-96269400	Enhancers	Brain Hippocampus Middle	brain
33	chr5:96268200-96269400	Enhancers	Fetal Intestine Small	intestine
34	chr5:96268200-96269600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:96268200-96269600	Enhancers	Hela-S3	cervix
36	chr5:96268200-96269600	Enhancers	NHEK	skin
37	chr5:96268200-96270200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr5:96268200-96270400	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr5:96268200-96274000	Active TSS	GM12878-XiMat	blood
40	chr5:96268400-96269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:96268400-96269200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr5:96268400-96269200	Weak transcription	Brain Substantia Nigra	brain
43	chr5:96268400-96269400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr5:96268400-96269400	Weak transcription	Colonic Mucosa	Colon
45	chr5:96268400-96269400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:96268400-96269400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:96268400-96270400	Weak transcription	Gastric	stomach
48	chr5:96268400-96270400	Weak transcription	Spleen	Spleen
49	chr5:96268400-96271200	Active TSS	Primary T cells fromperipheralblood	blood
50	chr5:96268400-96272600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links