Variant report

Variant	rs73106823
Chromosome Location	chr2:231448288-231448289
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	ATF2	chr2:231447466-231448294	GM12878	blood:	n/a	n/a
2	BATF	chr2:231448182-231448619	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:231447478-231449216	GM12878	blood:	n/a	n/a
4	FOXM1	chr2:231447041-231448305	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:231447455-231449128	GM12892	blood:	n/a	n/a
6	MTA3	chr2:231447140-231448977	GM12878	blood:	n/a	n/a
7	CHD1	chr2:231447550-231448627	GM12878	blood:	n/a	n/a
8	PML	chr2:231447286-231449090	GM12878	blood:	n/a	chr2:231448813-231448821
9	BCLAF1	chr2:231447303-231448937	GM12878	blood:	n/a	chr2:231448477-231448486 chr2:231447804-231447813 chr2:231448763-231448772
10	RELA	chr2:231447615-231448711	GM19099	blood:	n/a	n/a
11	STAT5A	chr2:231447432-231448811	GM12878	blood:	n/a	chr2:231448358-231448366 chr2:231447822-231447830 chr2:231447802-231447813
12	NFATC1	chr2:231447359-231448688	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:231447291-231449074	GM12878	blood:	n/a	n/a
14	MAX	chr2:231447730-231448592	GM12878	blood:	n/a	n/a
15	RUNX3	chr2:231447405-231448926	GM12878	blood:	n/a	n/a
16	IKZF1	chr2:231447588-231448862	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:231447492-231449219	GM12891	blood:	n/a	n/a
18	RUNX3	chr2:231447421-231448746	GM12878	blood:	n/a	n/a
19	CREB1	chr2:231447396-231448790	GM12878	blood:	n/a	n/a
20	NFIC	chr2:231447287-231449123	GM12878	blood:	n/a	n/a
21	STAT3	chr2:231447475-231448649	GM12878	blood:	n/a	chr2:231448358-231448366 chr2:231447822-231447830 chr2:231447802-231447813
22	ZNF263	chr2:231448203-231448606	HEK293-T-REx	kidney:	n/a	n/a
23	RELA	chr2:231447543-231448953	GM12891	blood:	n/a	n/a
24	USF2	chr2:231447996-231448797	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:231447395-231449112	GM12892	blood:	n/a	n/a
26	POLR2A	chr2:231447579-231449114	GM12878	blood:	n/a	n/a
27	MTA3	chr2:231447047-231449191	GM12878	blood:	n/a	n/a
28	RELA	chr2:231447603-231448599	GM19193	blood:	n/a	n/a
29	POLR2A	chr2:231447394-231448734	GM12891	blood:	n/a	n/a
30	RELA	chr2:231447109-231448742	GM18505	blood:	n/a	n/a
31	STAT5A	chr2:231447395-231448619	GM12878	blood:	n/a	chr2:231448358-231448366 chr2:231447822-231447830 chr2:231447802-231447813
32	FOXM1	chr2:231447235-231448993	GM12878	blood:	n/a	chr2:231448425-231448433
33	NFIC	chr2:231447350-231448782	GM12878	blood:	n/a	n/a
34	ATF2	chr2:231447422-231448787	GM12878	blood:	n/a	n/a
35	SMC3	chr2:231447619-231448311	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:231447529-231449085	GM18505	blood:	n/a	n/a
37	WRNIP1	chr2:231447553-231448628	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:231448240-231448670	GM12892	blood:	n/a	n/a
39	POLR2A	chr2:231447782-231449041	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000235419	TF binding region
RNU6-451P	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11898876	0.89[AFR][1000 genomes]
rs59148558	0.89[AFR][1000 genomes]
rs73104901	0.86[AFR][1000 genomes]
rs73106825	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9749860	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875955	chr2:231440555-231500805	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv961010	chr2:231446732-231451285	Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231443400-231451000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:231443400-231453800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:231443400-231454400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:231443400-231454600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:231446800-231449000	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:231447200-231448600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:231447200-231449000	Flanking Active TSS	GM12878-XiMat	blood
8	chr2:231447400-231448400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:231447400-231448400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr2:231447800-231448600	Enhancers	Primary B cells from cord blood	blood
11	chr2:231448000-231448400	Enhancers	NH-A	brain
12	chr2:231448200-231456000	Weak transcription	Primary T cells fromperipheralblood	blood

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