Variant report

Variant	rs12804022
Chromosome Location	chr11:57074657-57074658
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	SPI1	chr11:57074537-57075104	HL-60	blood:	n/a	chr11:57074913-57074920 chr11:57075048-57075061 chr11:57074919-57074932 chr11:57074988-57075001
2	POLR2A	chr11:57074585-57074716	Hela-S3	cervix:	n/a	n/a
3	SPI1	chr11:57074649-57075040	GM12878	blood:	n/a	chr11:57074913-57074920 chr11:57074919-57074932 chr11:57074988-57075001
4	RUNX3	chr11:57074435-57074722	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:57074641-57074931	K562	blood:	n/a	n/a
6	POLR2A	chr11:57074624-57074944	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:57074643-57075055	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:57074636-57074911	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:57074392-57075004	GM12878	blood:	n/a	n/a
10	SPI1	chr11:57074609-57075102	GM12891	blood:	n/a	chr11:57074913-57074920 chr11:57075048-57075061 chr11:57074919-57074932 chr11:57074988-57075001

No.	Distal block	Cell Line	Cell type
1	chr11:57074196..57077122-chr11:57088845..57090376,2	K562	blood:
2	chr11:57074141..57076695-chr11:57081529..57084399,2	K562	blood:
3	chr11:57072221..57074668-chr11:57092202..57093754,2	K562	blood:
4	chr11:57069900..57073117-chr11:57073296..57075998,3	MCF-7	breast:
5	chr11:57072533..57077787-chr11:57091126..57096114,6	MCF-7	breast:
6	chr11:57073611..57077332-chr11:57101938..57105218,4	K562	blood:
7	chr11:57074289..57076422-chr11:57076530..57079062,4	MCF-7	breast:

Variant related genes	Relation type
TNKS1BP1	TF binding region
ENSG00000149115	Chromatin interaction
ENSG00000149136	Chromatin interaction
ENSG00000254662	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1124846	1.00[AFR][1000 genomes]
rs12417609	1.00[AFR][1000 genomes]
rs12417875	1.00[AFR][1000 genomes]
rs12574780	0.93[AMR][1000 genomes]
rs12576471	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12785770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12786396	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12787728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12789789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12792413	1.00[AFR][1000 genomes]
rs12797375	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12798121	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12799582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12800182	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12800196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12800402	1.00[AFR][1000 genomes]
rs12801000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12803405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12806656	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12806978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12807593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808495	1.00[AFR][1000 genomes]
rs12808784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808788	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12808989	1.00[EUR][1000 genomes]
rs17145552	1.00[AFR][1000 genomes]
rs17145556	1.00[AFR][1000 genomes]
rs17151664	1.00[AFR][1000 genomes]
rs17151671	1.00[AFR][1000 genomes]
rs17151841	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17564188	1.00[AFR][1000 genomes]
rs17651297	1.00[AFR][1000 genomes]
rs17651573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1806823	1.00[AFR][1000 genomes]
rs1939488	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941034	1.00[AFR][1000 genomes]
rs1941054	1.00[AFR][1000 genomes]
rs1943485	1.00[AFR][1000 genomes]
rs2077188	1.00[AFR][1000 genomes]
rs2156457	1.00[AFR][1000 genomes]
rs2156458	1.00[AFR][1000 genomes]
rs2156460	1.00[AFR][1000 genomes]
rs2212608	1.00[AFR][1000 genomes]
rs2230648	0.85[AMR][1000 genomes]
rs2511025	0.93[AMR][1000 genomes]
rs2846046	0.93[AMR][1000 genomes]
rs2851723	0.93[AMR][1000 genomes]
rs34014874	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34069781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34076116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34085089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34458685	1.00[AFR][1000 genomes]
rs34498883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34505638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34544917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34572680	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34704777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34742309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34754262	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34761603	1.00[AFR][1000 genomes]
rs34769912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34850337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34905018	1.00[AFR][1000 genomes]
rs34985061	1.00[AFR][1000 genomes]
rs35272228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35284031	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35366909	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35388927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407832	0.85[AMR][1000 genomes]
rs35536636	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35566323	1.00[AFR][1000 genomes]
rs35707583	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35721601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818468	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35845551	1.00[AFR][1000 genomes]
rs35943801	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35950335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35980006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35991636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36090449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs499885	0.86[AMR][1000 genomes]
rs558266	0.86[AMR][1000 genomes]
rs578831	0.86[AMR][1000 genomes]
rs655402	0.86[AMR][1000 genomes]
rs656366	0.86[AMR][1000 genomes]
rs6591419	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670919	0.86[AMR][1000 genomes]
rs71484414	1.00[AFR][1000 genomes]
rs71484419	1.00[AFR][1000 genomes]
rs71484422	1.00[AFR][1000 genomes]
rs71484424	1.00[AFR][1000 genomes]
rs71484425	1.00[AFR][1000 genomes]
rs71484428	1.00[AFR][1000 genomes]
rs71484429	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484430	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484431	1.00[AFR][1000 genomes]
rs71484432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71484433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71484440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484443	0.81[EUR][1000 genomes]
rs71484444	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484445	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484446	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs717117	1.00[AFR][1000 genomes]
rs746885	1.00[AFR][1000 genomes]
rs948843	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57067200-57078400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:57067400-57078400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:57067400-57079000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:57067600-57078400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:57067800-57078000	Weak transcription	Fetal Heart	heart
7	chr11:57067800-57078400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:57068400-57078400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:57068400-57081600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57068800-57078200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:57068800-57078200	Weak transcription	Fetal Brain Male	brain
12	chr11:57069200-57076400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:57069600-57076800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:57069600-57078400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:57069800-57076400	Weak transcription	Fetal Thymus	thymus
16	chr11:57069800-57078200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:57069800-57078600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:57069800-57078600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:57070000-57078200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:57070000-57078400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:57070000-57078600	Weak transcription	Primary T cells from cord blood	blood
22	chr11:57070200-57074800	Weak transcription	Brain Angular Gyrus	brain
23	chr11:57070200-57078200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:57070200-57078400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:57070200-57078600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:57070400-57076200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:57070600-57078000	Genic enhancers	HMEC	breast
28	chr11:57070800-57075000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:57070800-57075000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:57070800-57075200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:57070800-57075400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:57070800-57076000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:57070800-57077600	Weak transcription	Thymus	Thymus
34	chr11:57071000-57075400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:57071000-57076200	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:57071000-57077400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:57071000-57078000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:57071200-57075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:57071200-57075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:57071200-57075800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:57071200-57076600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:57071200-57076600	Enhancers	HepG2	liver
43	chr11:57071400-57077800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:57071400-57078000	Genic enhancers	Fetal Muscle Leg	muscle
45	chr11:57071600-57076800	Weak transcription	Dnd41	blood
46	chr11:57071800-57077800	Enhancers	Psoas Muscle	Psoas
47	chr11:57072000-57074800	Enhancers	Stomach Mucosa	stomach
48	chr11:57072000-57075200	Weak transcription	Brain Anterior Caudate	brain
49	chr11:57072000-57078200	Strong transcription	Fetal Brain Female	brain
50	chr11:57072200-57078200	Genic enhancers	Stomach Smooth Muscle	stomach

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