Variant report

Variant	rs622373
Chromosome Location	chr11:120256845-120256846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120256139..120258853-chr11:120261413..120263735,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10892559	1.00[CHB][hapmap]
rs11217817	1.00[CHB][hapmap]
rs12364701	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941409	1.00[ASN][1000 genomes]
rs1941411	1.00[CHB][hapmap]
rs2155808	1.00[CHB][hapmap]
rs2155809	1.00[CHB][hapmap]
rs2715881	1.00[CHB][hapmap]
rs2715883	1.00[CHB][hapmap]
rs2847494	1.00[CHB][hapmap]
rs2847495	1.00[CHB][hapmap]
rs496248	1.00[LWK][hapmap];0.89[MKK][hapmap];0.88[YRI][hapmap]
rs7484249	1.00[CHB][hapmap]
rs7930543	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs622373	ARHGEF12	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

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	chr11:120251400-120261200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:120253200-120260800	Weak transcription	Fetal Lung	lung
6	chr11:120254000-120258000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:120254200-120257800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:120254200-120258000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:120254200-120258000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:120254200-120258400	Enhancers	Liver	Liver
11	chr11:120254400-120257000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:120254400-120257800	Enhancers	Fetal Heart	heart
13	chr11:120254400-120257800	Enhancers	NHDF-Ad	bronchial
14	chr11:120254400-120258000	Enhancers	Osteobl	bone
15	chr11:120254600-120257800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:120254600-120265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:120254600-120266400	Weak transcription	Gastric	stomach
18	chr11:120254600-120271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:120255000-120257400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:120255000-120257600	Enhancers	Colon Smooth Muscle	Colon
21	chr11:120255200-120257000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:120255200-120257400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:120255200-120258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:120255400-120257200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:120255400-120257400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:120255400-120257600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:120255400-120262200	Weak transcription	Right Ventricle	heart
28	chr11:120255600-120257000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:120255600-120257600	Active TSS	Fetal Brain Male	brain
30	chr11:120255600-120259000	Active TSS	Fetal Brain Female	brain
31	chr11:120255600-120260800	Weak transcription	HMEC	breast
32	chr11:120255800-120257000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:120255800-120258000	Enhancers	Adipose Nuclei	Adipose
34	chr11:120255800-120259400	Enhancers	A549	lung
35	chr11:120255800-120262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:120256000-120257000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:120256000-120257000	Active TSS	Fetal Kidney	kidney
38	chr11:120256000-120257600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:120256000-120257800	Active TSS	Brain Cingulate Gyrus	brain
40	chr11:120256000-120258200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:120256000-120258200	Active TSS	Brain Germinal Matrix	brain
42	chr11:120256000-120258400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:120256000-120258800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:120256000-120259400	Active TSS	Brain Angular Gyrus	brain
45	chr11:120256200-120257600	Weak transcription	HepG2	liver
46	chr11:120256200-120260600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:120256200-120261000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:120256200-120261000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:120256200-120261000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:120256200-120262000	Weak transcription	Left Ventricle	heart

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