Variant report

Variant	rs58423665
Chromosome Location	chr11:67171954-67171955
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	MTA3	chr11:67171004-67173083	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:67171081-67172007	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67171877-67172576	HL-60	blood:	n/a	n/a
4	RUNX3	chr11:67171064-67171991	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67170866-67172517	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:67170888-67172752	GM12892	blood:	n/a	n/a
7	STAT5A	chr11:67171119-67172789	GM12878	blood:	n/a	chr11:67171305-67171313 chr11:67172120-67172132 chr11:67171831-67171843
8	POLR2A	chr11:67171942-67172546	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67171798..67174416-chr11:67233067..67235225,2	K562	blood:
2	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
3	chr11:67169616..67172754-chr11:67249059..67251001,3	MCF-7	breast:
4	chr11:67141172..67143536-chr11:67171363..67173683,2	K562	blood:
5	chr11:67171679..67173695-chr11:67249098..67251684,2	MCF-7	breast:

Variant related genes	Relation type
TBC1D10C	TF binding region
PPP1CA	TF binding region
ENSG00000110711	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2228522	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58224869	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs61739507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers 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	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
22	esv3359657	chr11:67171922-67172144	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67169600-67172600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:67169600-67172800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:67169800-67172200	Weak transcription	HSMM	muscle
4	chr11:67169800-67172400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:67169800-67172400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:67169800-67172600	Enhancers	Fetal Muscle Trunk	muscle
7	chr11:67169800-67174400	Weak transcription	Brain Angular Gyrus	brain
8	chr11:67169800-67174600	Weak transcription	HSMMtube	muscle
9	chr11:67169800-67175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:67169800-67175000	Weak transcription	Fetal Brain Male	brain
11	chr11:67169800-67176800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:67169800-67177800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:67169800-67178000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:67170000-67172000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:67170000-67172200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:67170000-67172200	Weak transcription	Hela-S3	cervix
17	chr11:67170000-67172200	Weak transcription	NH-A	brain
18	chr11:67170000-67172200	Weak transcription	Osteobl	bone
19	chr11:67170000-67174000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:67170000-67174400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:67170000-67177200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:67170000-67177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:67170000-67182800	Weak transcription	Right Atrium	heart
24	chr11:67170200-67173600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:67170200-67173600	Weak transcription	Brain Substantia Nigra	brain
26	chr11:67170200-67174400	Weak transcription	Right Ventricle	heart
27	chr11:67170200-67175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:67170200-67176600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:67170400-67172000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:67170600-67172400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr11:67170600-67172800	Flanking Active TSS	HepG2	liver
32	chr11:67170800-67172200	Active TSS	Colonic Mucosa	Colon
33	chr11:67170800-67172400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr11:67170800-67172400	Active TSS	Thymus	Thymus
35	chr11:67170800-67172800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr11:67170800-67172800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:67170800-67173000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr11:67170800-67173200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr11:67170800-67174000	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:67171000-67172000	Active TSS	GM12878-XiMat	blood
41	chr11:67171000-67172200	Active TSS	Duodenum Mucosa	Duodenum
42	chr11:67171000-67172400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr11:67171000-67172600	Active TSS	Primary T cells from cord blood	blood
44	chr11:67171000-67173400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:67171000-67176800	Weak transcription	Lung	lung
46	chr11:67171000-67177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:67171200-67172000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:67171200-67172000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:67171200-67172400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:67171200-67172400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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