Variant report

Variant	rs10511408
Chromosome Location	chr3:121793508-121793509
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	RCOR1	chr3:121793117-121794172	GM12878	blood:	n/a	n/a
2	PAX5	chr3:121793280-121794183	GM12878	blood:	n/a	n/a
3	EGR1	chr3:121793456-121793858	GM12878	blood:	n/a	chr3:121793576-121793587
4	SIN3A	chr3:121793508-121794208	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:121793372-121794211	GM12892	blood:	n/a	n/a
6	POLR2A	chr3:121793343-121794196	GM12892	blood:	n/a	n/a
7	RUNX3	chr3:121792720-121794283	GM12878	blood:	n/a	chr3:121793391-121793406
8	EBF1	chr3:121793320-121794190	GM12878	blood:	n/a	chr3:121793531-121793542 chr3:121793544-121793555 chr3:121793532-121793542
9	EP300	chr3:121793061-121794201	GM12878	blood:	n/a	chr3:121793728-121793737
10	WRNIP1	chr3:121793085-121794585	GM12878	blood:	n/a	n/a
11	BCLAF1	chr3:121793368-121794199	GM12878	blood:	n/a	n/a
12	BCL11A	chr3:121793402-121794144	GM12878	blood:	n/a	n/a
13	NFIC	chr3:121793203-121794592	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:121793338-121794699	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr3:121793277-121794286	GM12878	blood:	n/a	n/a
16	CTCF	chr3:121793440-121793590	GM12867	blood:	n/a	n/a
17	BATF	chr3:121793402-121794164	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:121793453-121794569	GM15510	blood:	n/a	n/a
19	ATF2	chr3:121793237-121794253	GM12878	blood:	n/a	n/a
20	EP300	chr3:121793412-121794190	GM12878	blood:	n/a	chr3:121793728-121793737
21	POLR2A	chr3:121793493-121794194	GM12878	blood:	n/a	n/a
22	EBF1	chr3:121793387-121793713	GM12878	blood:	n/a	chr3:121793531-121793542 chr3:121793544-121793555 chr3:121793532-121793542
23	PML	chr3:121793112-121794354	GM12878	blood:	n/a	chr3:121794053-121794061
24	JUND	chr3:121793320-121794982	GM12878	blood:	n/a	chr3:121793878-121793889 chr3:121793748-121793757 chr3:121793871-121793880
25	NFATC1	chr3:121793253-121794284	GM12878	blood:	n/a	n/a
26	ATF2	chr3:121793094-121794181	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:121793254-121794985	GM12878	blood:	n/a	n/a
28	RUNX3	chr3:121793013-121794159	GM12878	blood:	n/a	chr3:121793391-121793406
29	MAX	chr3:121793466-121794798	GM12878	blood:	n/a	n/a
30	CEBPB	chr3:121793156-121794298	GM12878	blood:	n/a	chr3:121793873-121793881
31	POLR2A	chr3:121793443-121794236	GM18951	blood:	n/a	n/a
32	POU2F2	chr3:121793260-121794287	GM12878	blood:	n/a	chr3:121793822-121793834
33	STAT5A	chr3:121793389-121794291	GM12878	blood:	n/a	chr3:121793864-121793872
34	IRF4	chr3:121793443-121794224	GM12878	blood:	n/a	n/a
35	MXI1	chr3:121793358-121794164	GM12878	blood:	n/a	n/a
36	CHD1	chr3:121793088-121794911	GM12878	blood:	n/a	n/a
37	POLR2A	chr3:121793455-121794578	GM12878	blood:	n/a	n/a
38	PAX5	chr3:121793340-121794168	GM12878	blood:	n/a	n/a
39	RELA	chr3:121793416-121794193	GM19099	blood:	n/a	n/a
40	NFATC1	chr3:121793451-121794202	GM12878	blood:	n/a	n/a
41	CHD2	chr3:121793404-121794207	GM12878	blood:	n/a	n/a
42	MTA3	chr3:121793275-121794947	GM12878	blood:	n/a	n/a
43	STAT5A	chr3:121793437-121794118	GM12878	blood:	n/a	chr3:121793864-121793872
44	YY1	chr3:121793441-121794168	GM12878	blood:	n/a	n/a
45	POLR2A	chr3:121792444-121801560	GM12878	blood:	n/a	n/a
46	BCLAF1	chr3:121793206-121794214	GM12878	blood:	n/a	n/a
47	MAZ	chr3:121793486-121794590	GM12878	blood:	n/a	n/a
48	POU2F2	chr3:121793395-121794174	GM12891	blood:	n/a	chr3:121793822-121793834
49	PAX5	chr3:121793464-121794081	GM12878	blood:	n/a	n/a
50	POLR2A	chr3:121793407-121794172	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
CD86	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17203418	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs17203439	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17281953	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36226551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36226875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7617517	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121786600-121815800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:121792000-121798400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:121792400-121794200	Flanking Active TSS	GM12878-XiMat	blood
4	chr3:121792400-121795600	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:121792800-121794000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:121792800-121794200	Enhancers	Spleen	Spleen
7	chr3:121792800-121795600	Enhancers	Primary B cells from cord blood	blood
8	chr3:121792800-121797600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr3:121792800-121798400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:121793000-121794200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:121793000-121794200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr3:121793000-121794400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:121793000-121795800	Weak transcription	Esophagus	oesophagus
14	chr3:121793200-121794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:121793200-121794200	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:121793200-121794400	Weak transcription	Adipose Nuclei	Adipose
17	chr3:121793200-121795400	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:121793200-121795600	Weak transcription	Placenta	Placenta
19	chr3:121793400-121793600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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