Variant report

Variant	rs12418364
Chromosome Location	chr11:120252221-120252222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr11:120252178-120252397	A549	lung:	n/a	n/a
2	NR3C1	chr11:120252060-120252388	A549	lung:	n/a	n/a
3	ARID3A	chr11:120252150-120252467	HepG2	liver:	n/a	n/a
4	STAT3	chr11:120252072-120252363	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr11:120252160-120252441	A549	lung:	n/a	n/a
6	FOS	chr11:120252101-120252315	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr11:120252106-120252457	HepG2	liver:	n/a	n/a
8	FOXA2	chr11:120251971-120252438	HepG2	liver:	n/a	n/a
9	CEBPB	chr11:120252037-120252474	HepG2	liver:	n/a	n/a
10	FOXA1	chr11:120251902-120252499	HepG2	liver:	n/a	n/a
11	NR3C1	chr11:120252188-120252372	A549	lung:	n/a	n/a
12	FOXA1	chr11:120251930-120252502	A549	lung:	n/a	n/a
13	CREB1	chr11:120252110-120252569	HepG2	liver:	n/a	n/a
14	NR3C1	chr11:120252062-120252463	A549	lung:	n/a	n/a
15	NR3C1	chr11:120252097-120252529	A549	lung:	n/a	n/a
16	HDAC2	chr11:120252174-120252440	HepG2	liver:	n/a	n/a
17	FOS	chr11:120252124-120252428	MCF10A-Er-Src	breast:	n/a	n/a
18	JUN	chr11:120252212-120252454	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:120251883-120252465	A549	lung:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120250268..120252452-chr11:120255237..120256890,2	K562	blood:

No data

Variant related genes	Relation type
ARHGEF12	TF binding region
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12419759	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12420968	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12421331	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4054	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120217600-120257000	Weak transcription	HSMM	muscle
2	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:120232000-120274800	Weak transcription	Ovary	ovary
4	chr11:120235600-120252400	Weak transcription	Fetal Lung	lung
5	chr11:120239200-120253800	Weak transcription	Right Atrium	heart
6	chr11:120245000-120254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:120246000-120252800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:120246000-120252800	Weak transcription	A549	lung
9	chr11:120247800-120256000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:120248200-120254200	Weak transcription	Pancreas	Pancrea
11	chr11:120248400-120254200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:120248400-120254400	Weak transcription	Fetal Heart	heart
13	chr11:120249400-120255600	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:120249600-120253200	Enhancers	Liver	Liver
15	chr11:120249600-120255400	Weak transcription	K562	blood
16	chr11:120249600-120255800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:120249800-120252400	Weak transcription	NHEK	skin
18	chr11:120249800-120254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:120250200-120253000	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:120250600-120253200	Enhancers	Colon Smooth Muscle	Colon
21	chr11:120250800-120252400	Enhancers	Stomach Mucosa	stomach
22	chr11:120250800-120253000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:120250800-120253200	Enhancers	HepG2	liver
24	chr11:120251000-120252600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:120251000-120253400	Enhancers	Small Intestine	intestine
26	chr11:120251000-120255400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:120251200-120252400	Enhancers	Right Ventricle	heart
28	chr11:120251200-120252400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:120251200-120252600	Enhancers	Gastric	stomach
30	chr11:120251200-120252800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:120251200-120253000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:120251200-120255200	Weak transcription	Adipose Nuclei	Adipose
33	chr11:120251200-120256000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:120251400-120252400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:120251400-120253200	Enhancers	NHLF	lung
36	chr11:120251400-120254200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:120251400-120254200	Weak transcription	Spleen	Spleen
38	chr11:120251400-120256000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:120251400-120261200	Weak transcription	Brain Substantia Nigra	brain
40	chr11:120251800-120253000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:120252000-120252400	Weak transcription	Left Ventricle	heart
42	chr11:120252000-120252800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:120252000-120253000	Enhancers	NHDF-Ad	bronchial
44	chr11:120252000-120255800	Weak transcription	Brain Anterior Caudate	brain
45	chr11:120252200-120252400	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:120252200-120252600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:120252200-120252600	Enhancers	Psoas Muscle	Psoas
48	chr11:120252200-120252800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:120252200-120253000	Enhancers	Osteobl	bone

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