Variant report

Variant	rs73584892
Chromosome Location	chr11:120080653-120080654
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	POLR2A	chr11:120080368-120083375	IMR90	lung:	n/a	n/a
2	MAZ	chr11:120080646-120082607	IMR90	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
3	MXI1	chr11:120080275-120082746	IMR90	lung:	n/a	chr11:120081821-120081830
4	MAX	chr11:120080645-120082378	Hela-S3	cervix:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
5	MAX	chr11:120080447-120082622	NB4	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
6	MXI1	chr11:120080653-120082910	SK-N-SH	brain:	n/a	chr11:120081821-120081830

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120054593..120056417-chr11:120079805..120082698,2	K562	blood:
3	chr11:120066886..120069148-chr11:120079541..120081080,2	K562	blood:
4	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
5	chr11:120078701..120081046-chr11:120081423..120083396,2	K562	blood:

Variant related genes	Relation type
OAF	TF binding region
ENSG00000184232	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs59157694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3322007	chr11:120079642-120084040	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3325819	chr11:120080267-120083115	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120075200-120081000	Enhancers	Pancreas	Pancrea
2	chr11:120077000-120080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:120078000-120081200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:120078200-120080800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:120078200-120080800	Enhancers	Spleen	Spleen
6	chr11:120078400-120080800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:120078400-120080800	Enhancers	Brain Angular Gyrus	brain
8	chr11:120078400-120080800	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:120078400-120080800	Enhancers	Fetal Intestine Small	intestine
10	chr11:120078400-120080800	Enhancers	Fetal Muscle Trunk	muscle
11	chr11:120078400-120080800	Enhancers	Ovary	ovary
12	chr11:120078400-120081000	Enhancers	Esophagus	oesophagus
13	chr11:120078400-120081000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:120078400-120081000	Enhancers	Small Intestine	intestine
15	chr11:120078600-120080800	Enhancers	Right Atrium	heart
16	chr11:120078600-120081000	Enhancers	HMEC	breast
17	chr11:120078600-120081000	Enhancers	HUVEC	blood vessel
18	chr11:120078800-120080800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:120078800-120080800	Enhancers	Placenta	Placenta
20	chr11:120078800-120080800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:120078800-120080800	Enhancers	HSMM	muscle
22	chr11:120079000-120080800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:120079200-120080800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:120079200-120080800	Enhancers	NHEK	skin
25	chr11:120079400-120080800	Enhancers	NH-A	brain
26	chr11:120079800-120080800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:120079800-120080800	Weak transcription	Psoas Muscle	Psoas
28	chr11:120079800-120080800	Weak transcription	HSMMtube	muscle
29	chr11:120079800-120080800	Weak transcription	K562	blood
30	chr11:120080000-120080800	Enhancers	Colon Smooth Muscle	Colon
31	chr11:120080200-120080800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:120080200-120080800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:120080400-120080800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:120080400-120080800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:120080400-120080800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:120080400-120080800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr11:120080400-120080800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:120080400-120080800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:120080400-120080800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:120080400-120080800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:120080400-120080800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:120080400-120080800	Enhancers	Brain Germinal Matrix	brain
43	chr11:120080400-120080800	Bivalent Enhancer	Fetal Thymus	thymus
44	chr11:120080400-120080800	Enhancers	Left Ventricle	heart
45	chr11:120080400-120080800	Bivalent Enhancer	Thymus	Thymus
46	chr11:120080400-120080800	Enhancers	GM12878-XiMat	blood
47	chr11:120080400-120081000	Enhancers	Right Ventricle	heart
48	chr11:120080400-120081000	Flanking Active TSS	Stomach Mucosa	stomach
49	chr11:120080400-120081200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:120080400-120081200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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