Variant report

Variant	rs12575175
Chromosome Location	chr11:3636004-3636005
allele	G/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	RUNX3	chr11:3635752-3636265	GM12878	blood:	n/a	n/a
2	GATA1	chr11:3635380-3636013	K562	blood:	n/a	chr11:3635626-3635633 chr11:3635625-3635635 chr11:3635627-3635644 chr11:3635626-3635633 chr11:3635626-3635635 chr11:3635622-3635638 chr11:3635626-3635635 chr11:3635626-3635633
3	MAX	chr11:3635868-3636250	K562	blood:	n/a	n/a
4	BHLHE40	chr11:3635535-3636206	K562	blood:	n/a	n/a
5	RUNX3	chr11:3635806-3636267	GM12878	blood:	n/a	n/a
6	MAX	chr11:3635912-3636171	GM12878	blood:	n/a	n/a
7	RELA	chr11:3635557-3636259	GM12891	blood:	n/a	n/a
8	MYC	chr11:3635910-3636177	K562	blood:	n/a	n/a
9	GATA1	chr11:3635215-3636220	PBDE	blood:	n/a	chr11:3635626-3635633 chr11:3635625-3635635 chr11:3635627-3635644 chr11:3635626-3635633 chr11:3635626-3635635 chr11:3635622-3635638 chr11:3635626-3635635 chr11:3635626-3635633
10	MAX	chr11:3635884-3636161	K562	blood:	n/a	n/a
11	EBF1	chr11:3635806-3636226	GM12878	blood:	n/a	chr11:3635951-3635962
12	POLR2A	chr11:3635384-3636318	HL-60	blood:	n/a	n/a
13	MAX	chr11:3635915-3636198	NB4	blood:	n/a	n/a
14	IKZF1	chr11:3635948-3636219	GM12878	blood:	n/a	n/a
15	SPI1	chr11:3635344-3636272	HL-60	blood:	n/a	n/a
16	MXI1	chr11:3635879-3636171	GM12878	blood:	n/a	n/a
17	SPI1	chr11:3635834-3636155	HL-60	blood:	n/a	n/a
18	BHLHE40	chr11:3635894-3636214	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:3635238-3636276	HL-60	blood:	n/a	n/a
20	MAZ	chr11:3635955-3636249	GM12878	blood:	n/a	n/a
21	EBF1	chr11:3635791-3636124	GM12878	blood:	n/a	chr11:3635951-3635962
22	EBF1	chr11:3635795-3636228	GM12878	blood:	n/a	chr11:3635951-3635962
23	MAZ	chr11:3635598-3636143	K562	blood:	n/a	n/a
24	MYC	chr11:3635888-3636168	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3635682..3637406-chr11:3642517..3644691,2	K562	blood:
2	chr11:3635648..3637182-chr11:3642262..3644691,2	K562	blood:
3	chr11:3635375..3637756-chr11:3638069..3640906,2	K562	blood:

Variant related genes	Relation type
TRPC2	TF binding region
ENSG00000182048	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12417991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418667	0.81[JPT][hapmap]
rs12422109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575957	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575968	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12792203	1.00[EUR][1000 genomes]
rs16929905	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2203400	0.97[ASN][1000 genomes]
rs7103680	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73422344	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422347	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047763	chr11:2918998-3751029	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv2758252	chr11:3236512-3801429	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2759796	chr11:3236512-3801429	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2760300	chr11:3416489-3667988	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	esv18699	chr11:3426081-3674989	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv832051	chr11:3523947-3728714	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv467660	chr11:3568044-3660914	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv553140	chr11:3568044-3660914	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1820972	chr11:3616884-3801429	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	esv1821329	chr11:3616884-3801429	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv832052	chr11:3616884-3801429	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv428247	chr11:3616884-3801429	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv526441	chr11:3626177-3756686	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv976446	chr11:3626480-3648596	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1046356	chr11:3628837-3774215	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1044345	chr11:3628912-3739222	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv540906	chr11:3628912-3739222	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
18	nsv1044419	chr11:3628912-3751029	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	nsv896892	chr11:3632107-3654676	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3436409	chr11:3634176-3637774	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1045810	chr11:3635610-3657520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3634800-3636800	Enhancers	Primary hematopoietic stem cells	blood
2	chr11:3635000-3636200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr11:3635000-3636400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:3635000-3636400	Enhancers	Right Ventricle	heart
5	chr11:3635000-3639200	Enhancers	Fetal Muscle Leg	muscle
6	chr11:3635200-3636200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:3635200-3636200	Enhancers	Left Ventricle	heart
8	chr11:3635200-3636400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:3635200-3636400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:3635200-3636400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:3635200-3636400	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:3635200-3636400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr11:3635200-3636400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:3635200-3636400	Enhancers	Fetal Thymus	thymus
15	chr11:3635200-3636400	Enhancers	K562	blood
16	chr11:3635200-3636400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:3635200-3636600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr11:3635200-3636600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:3635400-3636200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:3635400-3636400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:3635400-3636400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:3635400-3636600	Enhancers	Primary B cells from cord blood	blood
23	chr11:3635400-3636600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:3635400-3637000	Enhancers	GM12878-XiMat	blood
25	chr11:3635400-3638200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:3635400-3638400	Enhancers	HSMMtube	muscle
27	chr11:3635600-3636200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:3635600-3636200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:3635600-3636400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:3635600-3636400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:3635600-3636400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:3635600-3636600	Enhancers	Placenta	Placenta
33	chr11:3635600-3636600	Enhancers	NHEK	skin
34	chr11:3635600-3636800	Enhancers	HSMM	muscle
35	chr11:3635800-3636200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:3635800-3636200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:3635800-3636200	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:3635800-3636400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:3635800-3636400	Enhancers	Lung	lung
40	chr11:3635800-3636400	Enhancers	Spleen	Spleen
41	chr11:3635800-3636600	Enhancers	NHDF-Ad	bronchial
42	chr11:3635800-3638000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:3636000-3636200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:3636000-3636200	Enhancers	Primary T cells from cord blood	blood
45	chr11:3636000-3636400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:3636000-3636800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:3636000-3636800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr11:3636000-3637000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:3636000-3638200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:3636000-3639800	Weak transcription	Thymus	Thymus

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