Variant report

Variant	rs11227480
Chromosome Location	chr11:66176920-66176921
allele	A/G
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	MAZ	chr11:66175834-66177120	IMR90	lung:	n/a	chr11:66176754-66176764 chr11:66176815-66176825 chr11:66176463-66176472 chr11:66176103-66176110 chr11:66176550-66176560 chr11:66176100-66176110 chr11:66176101-66176110
2	POLR2A	chr11:66176526-66177354	K562	blood:	n/a	n/a
3	POLR2A	chr11:66175847-66177537	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:66176225-66178093	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr11:66175879-66177026	H1-hESC	embryonic stem cell:	n/a	chr11:66176363-66176376
6	REST	chr11:66175749-66177035	H1-neurons	neurons:	n/a	chr11:66176488-66176498 chr11:66176816-66176829

No.	Distal block	Cell Line	Cell type
1	chr11:66175946..66178663-chr11:66245836..66248085,2	MCF-7	breast:
2	chr11:66175311..66177198-chr11:66444334..66447325,3	MCF-7	breast:
3	chr11:66175969..66177016-chr11:66205724..66207101,6	K562	blood:
4	chr11:66174524..66177610-chr11:66443614..66447044,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPAS4-1	chr11:66176665-66176933	ENSG00000254510
2	lnc-NPAS4-1	chr11:66176724-66176933	NONHSAT022297

Variant related genes	Relation type
ENSG00000254510	TF binding region
ENSG00000255517	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000254986	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11227472	1.00[AFR][1000 genomes]
rs11227481	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66175800-66177400	Bivalent Enhancer	Fetal Thymus	thymus
2	chr11:66176000-66177000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:66176000-66177000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:66176000-66177000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66176000-66177000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:66176000-66177000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:66176000-66177200	Flanking Active TSS	Dnd41	blood
8	chr11:66176000-66177600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
9	chr11:66176200-66177000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:66176200-66177000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:66176200-66177000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr11:66176200-66177000	Enhancers	Fetal Brain Male	brain
13	chr11:66176200-66177400	Bivalent Enhancer	Placenta	Placenta
14	chr11:66176200-66178200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:66176400-66177000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr11:66176400-66177000	Enhancers	Spleen	Spleen
17	chr11:66176400-66177000	Enhancers	NHLF	lung
18	chr11:66176400-66177200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr11:66176600-66177000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:66176600-66177000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:66176600-66177000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr11:66176600-66177000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:66176600-66177000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:66176600-66177000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr11:66176600-66177000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:66176600-66177000	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:66176600-66177000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:66176600-66177000	Bivalent/Poised TSS	Colonic Mucosa	Colon
29	chr11:66176600-66177000	Enhancers	Left Ventricle	heart
30	chr11:66176600-66177000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr11:66176600-66177000	Enhancers	HSMM	muscle
32	chr11:66176600-66177000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr11:66176600-66177200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:66176600-66177200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:66176600-66177200	Enhancers	NHDF-Ad	bronchial
36	chr11:66176600-66177400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr11:66176600-66179800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr11:66176800-66177000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr11:66176800-66177000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr11:66176800-66177000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:66176800-66177000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:66176800-66177000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:66176800-66177000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
44	chr11:66176800-66177000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr11:66176800-66177000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr11:66176800-66177000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:66176800-66177000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
48	chr11:66176800-66177000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:66176800-66177000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:66176800-66177000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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