Variant report

Variant	rs11817978
Chromosome Location	chr10:90585347-90585348
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	POLR2A	chr10:90584881-90585407	GM12892	blood:	n/a	n/a
2	EBF1	chr10:90585139-90585367	GM12878	blood:	n/a	n/a
3	TBP	chr10:90584874-90585352	GM12878	blood:	n/a	n/a
4	SP1	chr10:90584974-90585357	GM12878	blood:	n/a	n/a
5	TCF12	chr10:90585069-90585375	GM12878	blood:	n/a	n/a
6	BHLHE40	chr10:90585017-90585443	GM12878	blood:	n/a	n/a
7	ELF1	chr10:90585030-90585378	GM12878	blood:	n/a	n/a
8	MXI1	chr10:90584818-90585419	GM12878	blood:	n/a	n/a
9	RCOR1	chr10:90584979-90585460	GM12878	blood:	n/a	n/a
10	ZNF143	chr10:90585065-90585361	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:90585033-90585359	GM12891	blood:	n/a	n/a
12	POLR2A	chr10:90584951-90585459	GM12891	blood:	n/a	n/a
13	SP1	chr10:90584905-90585368	GM12878	blood:	n/a	n/a
14	CHD2	chr10:90584801-90585424	GM12878	blood:	n/a	n/a
15	CUX1	chr10:90584970-90585453	GM12878	blood:	n/a	n/a
16	EP300	chr10:90584718-90585420	GM12878	blood:	n/a	chr10:90584999-90585013
17	POLR2A	chr10:90584962-90585372	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ANKRD22	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11202857	1.00[AMR][1000 genomes]
rs11202862	1.00[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12246340	1.00[AMR][1000 genomes]
rs12255810	1.00[ASW][hapmap]
rs12256354	1.00[AMR][1000 genomes]
rs12259829	1.00[AMR][1000 genomes]
rs7912706	1.00[ASW][hapmap];0.92[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.98[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	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv831941	chr10:90410488-90587332	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv1043015	chr10:90467067-90593692	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv467415	chr10:90478483-90600865	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv551840	chr10:90478483-90600865	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90574200-90598400	Weak transcription	Gastric	stomach
2	chr10:90578000-90607200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:90578400-90591600	Weak transcription	Fetal Stomach	stomach
4	chr10:90578600-90592600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:90578600-90611200	Weak transcription	Esophagus	oesophagus
6	chr10:90579200-90591600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr10:90580200-90587600	Weak transcription	Small Intestine	intestine
8	chr10:90582200-90586800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr10:90582600-90591600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr10:90583400-90585800	Weak transcription	Colonic Mucosa	Colon
11	chr10:90583600-90587800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr10:90583600-90592800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr10:90583800-90585800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr10:90583800-90585800	Enhancers	Fetal Thymus	thymus
15	chr10:90583800-90587000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr10:90583800-90587000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:90584000-90587000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr10:90584200-90587000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:90584200-90587000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr10:90584200-90587000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr10:90584400-90586400	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:90584800-90585400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:90584800-90585400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:90585000-90585400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr10:90585000-90585400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr10:90585000-90585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:90585000-90585400	Enhancers	Thymus	Thymus
28	chr10:90585200-90585400	Enhancers	Primary hematopoietic stem cells	blood
29	chr10:90585200-90585400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr10:90585200-90585400	Flanking Active TSS	GM12878-XiMat	blood
31	chr10:90585200-90585600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr10:90585200-90585600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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