Variant report

Variant	rs58610284
Chromosome Location	chr8:61817098-61817099
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	BCLAF1	chr8:61815908-61817279	GM12878	blood:	n/a	chr8:61816745-61816754
2	POLR2A	chr8:61816714-61817193	HL-60	blood:	n/a	n/a
3	RUNX3	chr8:61815920-61817261	GM12878	blood:	n/a	n/a
4	ATF2	chr8:61815624-61817391	GM12878	blood:	n/a	n/a
5	CEBPB	chr8:61816808-61817143	GM12878	blood:	n/a	chr8:61816914-61816925 chr8:61816913-61816924
6	RELA	chr8:61816006-61817171	GM15510	blood:	n/a	n/a
7	CEBPB	chr8:61815763-61817408	GM12878	blood:	n/a	chr8:61816914-61816925 chr8:61816913-61816924
8	RELA	chr8:61816011-61817183	GM18951	blood:	n/a	n/a
9	CREB1	chr8:61815558-61817462	GM12878	blood:	n/a	chr8:61816088-61816101
10	CHD2	chr8:61815805-61817258	GM12878	blood:	n/a	n/a
11	ZNF143	chr8:61816755-61817122	GM12878	blood:	n/a	n/a
12	FOXM1	chr8:61815587-61817330	GM12878	blood:	n/a	n/a
13	RCOR1	chr8:61815859-61817300	GM12878	blood:	n/a	n/a
14	RELA	chr8:61815672-61817295	GM12878	blood:	n/a	n/a
15	BCL11A	chr8:61816622-61817157	GM12878	blood:	n/a	chr8:61816745-61816754
16	TBL1XR1	chr8:61815662-61817282	GM12878	blood:	n/a	n/a
17	MEF2A	chr8:61816522-61817242	GM12878	blood:	n/a	chr8:61816847-61816868 chr8:61816847-61816868 chr8:61816848-61816863
18	FOXM1	chr8:61815862-61817318	GM12878	blood:	n/a	n/a
19	RELA	chr8:61815642-61817205	GM19099	blood:	n/a	n/a
20	BCLAF1	chr8:61816534-61817213	GM12878	blood:	n/a	chr8:61816745-61816754
21	STAT5A	chr8:61815886-61817213	GM12878	blood:	n/a	chr8:61816517-61816525 chr8:61816916-61816924 chr8:61816347-61816355 chr8:61816232-61816244
22	EP300	chr8:61815835-61817305	GM12878	blood:	n/a	chr8:61816911-61816925
23	EBF1	chr8:61816673-61817174	GM12878	blood:	n/a	n/a
24	CHD1	chr8:61815905-61817169	GM12878	blood:	n/a	n/a
25	JUND	chr8:61815851-61817358	GM12878	blood:	n/a	n/a
26	MAX	chr8:61816220-61817282	GM12878	blood:	n/a	n/a
27	EP300	chr8:61815605-61817307	GM12878	blood:	n/a	chr8:61816911-61816925
28	SP1	chr8:61815920-61817199	GM12878	blood:	n/a	chr8:61816230-61816244
29	EP300	chr8:61815888-61817257	GM12878	blood:	n/a	chr8:61816911-61816925
30	SPI1	chr8:61816444-61817126	HL-60	blood:	n/a	n/a
31	CEBPB	chr8:61816754-61817098	K562	blood:	n/a	chr8:61816914-61816925 chr8:61816913-61816924
32	GATA1	chr8:61815488-61817403	K562	blood:	n/a	chr8:61816190-61816206 chr8:61816685-61816692 chr8:61816685-61816692 chr8:61816685-61816692 chr8:61816377-61816387 chr8:61816685-61816695 chr8:61816683-61816693
33	TCF12	chr8:61816737-61817137	GM12878	blood:	n/a	n/a
34	EP300	chr8:61815988-61817189	GM12878	blood:	n/a	chr8:61816911-61816925
35	IRF4	chr8:61816635-61817186	GM12878	blood:	n/a	n/a
36	RELA	chr8:61815984-61817163	GM10847	blood:	n/a	n/a
37	CREB1	chr8:61815839-61817382	GM12878	blood:	n/a	chr8:61816088-61816101
38	TCF3	chr8:61816759-61817177	GM12878	blood:	n/a	n/a
39	NFIC	chr8:61815636-61817311	GM12878	blood:	n/a	n/a
40	RELA	chr8:61816025-61817340	GM19193	blood:	n/a	n/a
41	TCF12	chr8:61816727-61817117	GM12878	blood:	n/a	n/a
42	MTA3	chr8:61815898-61817286	GM12878	blood:	n/a	n/a
43	MEF2C	chr8:61815865-61817316	GM12878	blood:	n/a	chr8:61815955-61815976 chr8:61816847-61816868 chr8:61815962-61815971 chr8:61815958-61815975 chr8:61815961-61815972 chr8:61816847-61816868 chr8:61815959-61815974 chr8:61816848-61816863 chr8:61815959-61815975 chr8:61815955-61815976 chr8:61816047-61816063 chr8:61816379-61816387
44	BHLHE40	chr8:61815921-61817292	GM12878	blood:	n/a	n/a
45	EBF1	chr8:61816022-61817237	GM12878	blood:	n/a	n/a
46	STAT5A	chr8:61815971-61817235	GM12878	blood:	n/a	chr8:61816517-61816525 chr8:61816916-61816924 chr8:61816347-61816355 chr8:61816232-61816244
47	TBP	chr8:61815767-61817321	GM12878	blood:	n/a	n/a
48	BCL3	chr8:61816677-61817205	GM12878	blood:	n/a	chr8:61816745-61816754
49	JUND	chr8:61816746-61817306	GM12878	blood:	n/a	n/a
50	POU2F2	chr8:61816687-61817129	GM12878	blood:	n/a	chr8:61817081-61817099 chr8:61817084-61817095

Variant related genes	Relation type
ENSG00000271377	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10504321	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680914	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12680923	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12682244	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16926576	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs16926582	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4123861	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4609230	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs55792263	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs55832112	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs57065489	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs58187777	0.92[ASN][1000 genomes]
rs59503990	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61356857	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61525594	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs72652548	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs72652549	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs72652550	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7819622	0.94[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61812000-61817200	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr8:61812000-61817600	Enhancers	Primary T cells from cord blood	blood
3	chr8:61812200-61821200	Weak transcription	Right Atrium	heart
4	chr8:61813800-61817200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:61814200-61817400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr8:61814600-61817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:61814800-61817200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:61814800-61817400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:61815000-61817200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:61815200-61817200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:61815200-61817200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr8:61815400-61817200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:61815600-61817200	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:61815600-61817200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:61815600-61817400	Flanking Active TSS	GM12878-XiMat	blood
16	chr8:61815600-61818000	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:61815800-61817200	Enhancers	K562	blood
18	chr8:61816000-61817200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr8:61816000-61817400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:61816000-61817400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:61816200-61817200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:61816200-61817200	Enhancers	Fetal Lung	lung
23	chr8:61816200-61817200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr8:61816200-61817200	Flanking Active TSS	HepG2	liver
25	chr8:61816200-61817800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:61816600-61817200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:61816800-61817200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:61816800-61817200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:61816800-61817200	Enhancers	Fetal Intestine Small	intestine
30	chr8:61816800-61817200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:61816800-61817600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:61816800-61820600	Weak transcription	Small Intestine	intestine
33	chr8:61816800-61821200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:61816800-61821200	Weak transcription	Colonic Mucosa	Colon
35	chr8:61816800-61821200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:61816800-61821200	Weak transcription	NH-A	brain
37	chr8:61816800-61821400	Weak transcription	Osteobl	bone
38	chr8:61817000-61817400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:61817000-61817400	Enhancers	HUVEC	blood vessel
40	chr8:61817000-61817600	Enhancers	Fetal Intestine Large	intestine
41	chr8:61817000-61817600	Enhancers	Stomach Mucosa	stomach
42	chr8:61817000-61818000	Weak transcription	Fetal Thymus	thymus
43	chr8:61817000-61818000	Weak transcription	Pancreas	Pancrea
44	chr8:61817000-61820200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:61817000-61820400	Weak transcription	Primary B cells from cord blood	blood
46	chr8:61817000-61821000	Weak transcription	Adipose Nuclei	Adipose
47	chr8:61817000-61821200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:61817000-61821200	Weak transcription	HSMM	muscle
49	chr8:61817000-61821400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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