Variant report

Variant	rs11102689
Chromosome Location	chr1:114417034-114417035
allele	A/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	chr1:114416958-114417455	K562	blood:	n/a	n/a
2	MAFF	chr1:114417023-114417427	K562	blood:	n/a	n/a
3	BHLHE40	chr1:114416953-114417576	GM12878	blood:	n/a	n/a
4	E2F4	chr1:114416661-114417255	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr1:114416968-114417336	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr1:114416935-114417543	K562	blood:	n/a	n/a
7	TEAD4	chr1:114416892-114417637	K562	blood:	n/a	n/a
8	SPI1	chr1:114416992-114417190	K562	blood:	n/a	n/a
9	NFIC	chr1:114416530-114417590	GM12878	blood:	n/a	n/a
10	FOS	chr1:114416956-114417356	MCF10A-Er-Src	breast:	n/a	chr1:114417105-114417116
11	STAT3	chr1:114416952-114417434	MCF10A-Er-Src	breast:	n/a	chr1:114417206-114417215 chr1:114417207-114417216
12	RUNX3	chr1:114416583-114417534	GM12878	blood:	n/a	n/a
13	EP300	chr1:114416972-114417396	K562	blood:	n/a	chr1:114417065-114417074
14	BATF	chr1:114417024-114417464	GM12878	blood:	n/a	chr1:114417108-114417118
15	FOS	chr1:114416961-114417404	MCF10A-Er-Src	breast:	n/a	chr1:114417105-114417116
16	ARID3A	chr1:114416713-114417271	K562	blood:	n/a	n/a
17	RUNX3	chr1:114416539-114417613	GM12878	blood:	n/a	n/a
18	STAT3	chr1:114416964-114417332	MCF10A-Er-Src	breast:	n/a	chr1:114417206-114417215 chr1:114417207-114417216
19	SPI1	chr1:114416916-114417194	GM12878	blood:	n/a	n/a
20	FOS	chr1:114416820-114417452	HUVEC	blood vessel:	n/a	chr1:114417105-114417116
21	RCOR1	chr1:114417010-114417530	K562	blood:	n/a	n/a
22	SPI1	chr1:114416926-114417231	GM12891	blood:	n/a	n/a
23	SPI1	chr1:114416880-114417183	GM12891	blood:	n/a	n/a
24	GATA2	chr1:114416941-114417436	HUVEC	blood vessel:	n/a	n/a
25	FOS	chr1:114416967-114417390	MCF10A-Er-Src	breast:	n/a	chr1:114417105-114417116
26	GATA1	chr1:114416496-114417805	PBDE	blood:	n/a	chr1:114416510-114416518 chr1:114416618-114416639
27	STAT3	chr1:114416976-114417388	MCF10A-Er-Src	breast:	n/a	chr1:114417206-114417215 chr1:114417207-114417216
28	FOS	chr1:114417033-114417355	MCF10A-Er-Src	breast:	n/a	chr1:114417105-114417116
29	CEBPB	chr1:114416631-114417386	K562	blood:	n/a	n/a
30	ZNF384	chr1:114416606-114417326	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:114396190..114400486-chr1:114415320..114417523,4	MCF-7	breast:
2	chr1:114416696..114418511-chr1:114445493..114447564,2	K562	blood:
3	chr1:114416299..114419266-chr1:114473123..114475526,3	MCF-7	breast:
4	chr1:114416727..114419302-chr20:56273752..56275590,2	MCF-7	breast:
5	chr1:114410354..114414312-chr1:114415133..114418521,4	K562	blood:
6	chr1:114415714..114417766-chr1:114443155..114445655,2	MCF-7	breast:
7	chr1:114415189..114417454-chr1:114422016..114424443,3	MCF-7	breast:
8	chr1:114414869..114417107-chr1:114504505..114506376,2	MCF-7	breast:
9	chr1:114414556..114418668-chr1:114471915..114474547,3	K562	blood:
10	chr1:114415525..114417374-chr1:114419070..114421891,2	K562	blood:
11	chr1:114377679..114378960-chr1:114416919..114417937,6	MCF-7	breast:
12	chr1:114415510..114417903-chr1:114447530..114449794,2	MCF-7	breast:

Variant related genes	Relation type
PTPN22	TF binding region
ENSG00000134242	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000226167	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000235527	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10858017	0.80[EUR][1000 genomes]
rs10858019	0.80[EUR][1000 genomes]
rs10858021	0.82[EUR][1000 genomes]
rs11102691	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12044534	0.80[EUR][1000 genomes]
rs12061482	0.80[EUR][1000 genomes]
rs12063216	0.80[EUR][1000 genomes]
rs1217376	0.81[EUR][1000 genomes]
rs1217377	0.82[EUR][1000 genomes]
rs1217380	0.82[EUR][1000 genomes]
rs1217388	0.84[EUR][1000 genomes]
rs1217389	0.84[EUR][1000 genomes]
rs1217395	0.84[EUR][1000 genomes]
rs1217407	0.85[EUR][1000 genomes]
rs1217410	0.85[EUR][1000 genomes]
rs1217412	0.83[EUR][1000 genomes]
rs1217421	0.85[EUR][1000 genomes]
rs1230678	0.80[EUR][1000 genomes]
rs1230679	0.80[EUR][1000 genomes]
rs1230685	0.80[EUR][1000 genomes]
rs12566340	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1599971	0.84[EUR][1000 genomes]
rs1775754	0.84[EUR][1000 genomes]
rs2488458	0.85[EUR][1000 genomes]
rs2797409	0.80[EUR][1000 genomes]
rs2797412	0.80[EUR][1000 genomes]
rs4565712	0.80[EUR][1000 genomes]
rs6537795	0.80[EUR][1000 genomes]
rs7529353	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114410000-114417800	Enhancers	NHEK	skin
2	chr1:114412600-114417600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:114414200-114417600	Enhancers	HUVEC	blood vessel
4	chr1:114414400-114417200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:114415000-114447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:114415200-114418200	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:114415200-114418600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:114415400-114417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:114415400-114417600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:114415400-114417800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:114415400-114419000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:114415400-114428800	Weak transcription	Colonic Mucosa	Colon
13	chr1:114415400-114437000	Weak transcription	Thymus	Thymus
14	chr1:114415600-114417200	Enhancers	Primary B cells from cord blood	blood
15	chr1:114415600-114417200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:114415600-114417400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:114415600-114417400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:114415600-114417400	Enhancers	Dnd41	blood
19	chr1:114415600-114417600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:114415600-114417600	Enhancers	Primary T cells from cord blood	blood
21	chr1:114415600-114417800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:114415600-114417800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:114415600-114418000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:114415600-114418200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:114415600-114418400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:114415600-114418800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:114415800-114418200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:114415800-114418800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:114416000-114417200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:114416000-114417800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:114416400-114417600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr1:114416600-114417200	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:114416600-114417400	Enhancers	NH-A	brain
34	chr1:114416600-114417600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:114416600-114417600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:114416600-114417600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:114416600-114417600	Enhancers	HMEC	breast
38	chr1:114416600-114417600	Enhancers	K562	blood
39	chr1:114416600-114417800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:114416600-114417800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:114416800-114417200	Active TSS	GM12878-XiMat	blood
42	chr1:114416800-114417400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:114416800-114417400	Enhancers	Fetal Thymus	thymus
44	chr1:114417000-114417400	Weak transcription	Small Intestine	intestine
45	chr1:114417000-114423600	Weak transcription	Stomach Mucosa	stomach

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