Variant report

Variant	rs9666344
Chromosome Location	chr11:120258767-120258768
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:
2	chr11:120227977..120230527-chr11:120258363..120260160,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1113942	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217760	1.00[AMR][1000 genomes]
rs11217761	1.00[AMR][1000 genomes]
rs11217836	1.00[AMR][1000 genomes]
rs11217838	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217839	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217877	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270008	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270771	1.00[AMR][1000 genomes]
rs12270828	1.00[AMR][1000 genomes]
rs12273877	1.00[AMR][1000 genomes]
rs12274049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278248	1.00[AMR][1000 genomes]
rs12279703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284358	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285963	1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288721	1.00[AMR][1000 genomes]
rs12290907	1.00[AMR][1000 genomes]
rs12291110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293270	0.85[LWK][hapmap]
rs12293493	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123851	1.00[ASW][hapmap]
rs41478048	1.00[LWK][hapmap];0.94[MKK][hapmap]
rs41508654	1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41527451	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111292	1.00[AMR][1000 genomes]
rs9665792	1.00[AFR][1000 genomes];1.00[AMR][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:120232000-120274800	Weak transcription	Ovary	ovary
3	chr11:120251400-120261200	Weak transcription	Brain Substantia Nigra	brain
4	chr11:120253200-120260800	Weak transcription	Fetal Lung	lung
5	chr11:120254600-120265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:120254600-120266400	Weak transcription	Gastric	stomach
7	chr11:120254600-120271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:120255400-120262200	Weak transcription	Right Ventricle	heart
9	chr11:120255600-120259000	Active TSS	Fetal Brain Female	brain
10	chr11:120255600-120260800	Weak transcription	HMEC	breast
11	chr11:120255800-120259400	Enhancers	A549	lung
12	chr11:120255800-120262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:120256000-120258800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:120256000-120259400	Active TSS	Brain Angular Gyrus	brain
15	chr11:120256200-120260600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:120256200-120261000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:120256200-120261000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:120256200-120261000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:120256200-120262000	Weak transcription	Left Ventricle	heart
20	chr11:120256200-120262200	Weak transcription	HSMMtube	muscle
21	chr11:120256400-120262000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:120256600-120260600	Weak transcription	NHEK	skin
23	chr11:120256600-120261800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:120256800-120261600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:120256800-120261800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:120256800-120262000	Weak transcription	Psoas Muscle	Psoas
27	chr11:120256800-120262000	Weak transcription	NH-A	brain
28	chr11:120257000-120261000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:120257000-120261400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:120257000-120262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:120257200-120260800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:120257200-120261200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:120257200-120262200	Weak transcription	HSMM	muscle
34	chr11:120257400-120261000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:120257400-120261600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:120257400-120261800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:120257600-120259600	Enhancers	HepG2	liver
38	chr11:120257600-120261000	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:120257600-120261200	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:120257600-120261400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:120257800-120260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:120257800-120260800	Weak transcription	Stomach Mucosa	stomach
43	chr11:120257800-120261000	Weak transcription	Brain Anterior Caudate	brain
44	chr11:120257800-120261000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:120257800-120261000	Weak transcription	Fetal Heart	heart
46	chr11:120257800-120261000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:120257800-120261200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:120257800-120262200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:120257800-120262200	Weak transcription	NHDF-Ad	bronchial
50	chr11:120257800-120263200	Weak transcription	NHLF	lung

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