Variant report

Variant	rs6889168
Chromosome Location	chr5:75900782-75900783
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	JUN	chr5:75900536-75900943	HepG2	liver:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900849-75900859
2	JUND	chr5:75900672-75901051	HepG2	liver:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
3	FOXA1	chr5:75900685-75900991	HepG2	liver:	n/a	n/a
4	FOXA2	chr5:75900638-75901155	A549	lung:	n/a	n/a
5	FOSL2	chr5:75900531-75901189	A549	lung:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900847-75900858 chr5:75900849-75900859 chr5:75900849-75900859
6	FOSL2	chr5:75900674-75901149	MCF-7	breast:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900847-75900858 chr5:75900849-75900859 chr5:75900849-75900859
7	JUND	chr5:75900711-75900993	K562	blood:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
8	FOXA2	chr5:75900758-75900971	HepG2	liver:	n/a	n/a
9	FOSL2	chr5:75900643-75900997	HepG2	liver:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900847-75900858 chr5:75900849-75900859 chr5:75900849-75900859
10	JUND	chr5:75900743-75900890	HepG2	liver:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
11	FOS	chr5:75900652-75901039	MCF10A-Er-Src	breast:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
12	FOSL2	chr5:75900657-75901016	A549	lung:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900847-75900858 chr5:75900849-75900859 chr5:75900849-75900859
13	KAP1	chr5:75900579-75901024	U2OS	brain:	n/a	chr5:75900851-75900860
14	FOSL2	chr5:75900614-75901077	SK-N-SH	brain:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900847-75900858 chr5:75900849-75900859 chr5:75900849-75900859
15	FOXA1	chr5:75900600-75901022	HepG2	liver:	n/a	n/a
16	FOS	chr5:75900680-75901018	MCF10A-Er-Src	breast:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
17	FOS	chr5:75900683-75901029	MCF10A-Er-Src	breast:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
18	JUND	chr5:75900635-75901116	MCF-7	breast:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
19	FOSL2	chr5:75900698-75901057	MCF-7	breast:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900847-75900858 chr5:75900849-75900859 chr5:75900849-75900859
20	FOSL2	chr5:75900735-75900983	HepG2	liver:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900847-75900858 chr5:75900849-75900859 chr5:75900849-75900859
21	EBF1	chr5:75900674-75900943	GM12878	blood:	n/a	chr5:75900815-75900828 chr5:75900816-75900827
22	JUND	chr5:75900605-75901037	A549	lung:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
23	JUND	chr5:75900696-75900904	HepG2	liver:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
24	FOS	chr5:75900657-75901134	HUVEC	blood vessel:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859
25	FOS	chr5:75900702-75901029	MCF10A-Er-Src	breast:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900848-75900859 chr5:75900849-75900859 chr5:75900849-75900859

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75899104..75902387-chr5:75903056..75906871,6	K562	blood:
2	chr5:75899087..75901579-chr5:75954997..75956885,2	K562	blood:

Variant related genes	Relation type
IQGAP2	TF binding region
ENSG00000145703	Chromatin interaction
ENSG00000249713	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10080190	0.82[CEU][hapmap]
rs11747835	1.00[ASW][hapmap]
rs13183341	1.00[CHB][hapmap]
rs17652073	1.00[ASW][hapmap];1.00[CHB][hapmap]
rs2840106	0.82[CEU][hapmap]
rs3776768	0.82[CEU][hapmap]
rs4704336	0.82[CEU][hapmap]

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	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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	2 gene(s)	inside rSNPs	diseases
8	nsv598681	chr5:75863987-75902533	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6889168	ANKRA2	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75846800-75902600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:75873600-75903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:75877000-75902800	Weak transcription	Adipose Nuclei	Adipose
4	chr5:75877400-75902800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:75879000-75913600	Weak transcription	Colonic Mucosa	Colon
6	chr5:75879000-75917600	Weak transcription	Fetal Thymus	thymus
7	chr5:75879000-75934000	Weak transcription	Small Intestine	intestine
8	chr5:75879200-75907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:75879200-75919000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:75879400-75903400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:75880200-75933400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:75882000-75901400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
14	chr5:75883400-75904200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:75884000-75903000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:75884000-75914600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:75884200-75902200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:75884400-75919200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:75884400-75919400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:75885200-75900800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:75885400-75905000	Strong transcription	Primary hematopoietic stem cells	blood
22	chr5:75886200-75902800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:75889400-75903000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:75889400-75903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:75891000-75911800	Weak transcription	Thymus	Thymus
26	chr5:75891200-75909200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:75891200-75911800	Strong transcription	Liver	Liver
28	chr5:75892000-75902400	Strong transcription	Primary B cells from cord blood	blood
29	chr5:75892000-75904000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:75892000-75910400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:75893400-75902000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:75893400-75903400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:75893400-75903400	Weak transcription	Spleen	Spleen
34	chr5:75893600-75902600	Weak transcription	Gastric	stomach
35	chr5:75893600-75903200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:75895200-75912800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:75896200-75901000	Strong transcription	Primary T cells from cord blood	blood
38	chr5:75896200-75901600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:75896800-75913800	Weak transcription	Pancreas	Pancrea
40	chr5:75897600-75902600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:75898000-75908800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:75898800-75902400	Weak transcription	GM12878-XiMat	blood
43	chr5:75898800-75902600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:75899200-75902400	Weak transcription	Placenta	Placenta
45	chr5:75899200-75902400	Weak transcription	NHLF	lung
46	chr5:75899200-75903400	Weak transcription	Esophagus	oesophagus
47	chr5:75899200-75904400	Weak transcription	K562	blood
48	chr5:75899400-75902400	Weak transcription	Fetal Stomach	stomach
49	chr5:75899400-75902600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:75899600-75901400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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