Variant report

Variant	rs12278919
Chromosome Location	chr11:77119130-77119131
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77109982..77113558-chr11:77117392..77121055,3	K562	blood:
2	chr11:77118642..77120180-chr11:77121556..77123065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10466736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237184	0.80[AFR][1000 genomes]
rs11237185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277109	0.80[AFR][1000 genomes]
rs12280139	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286371	0.80[AFR][1000 genomes]
rs12295046	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295581	0.85[AFR][1000 genomes]
rs59645430	0.80[AFR][1000 genomes]
rs7103656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109685	0.81[AFR][1000 genomes]
rs7119661	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494591	0.80[AFR][1000 genomes]
rs73494593	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73501412	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:77084600-77121200	Weak transcription	Thymus	Thymus
3	chr11:77086600-77120000	Weak transcription	Spleen	Spleen
4	chr11:77095400-77121000	Weak transcription	Fetal Thymus	thymus
5	chr11:77098000-77121200	Weak transcription	Placenta	Placenta
6	chr11:77103000-77121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:77103800-77121000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:77103800-77122000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:77110400-77121600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:77111200-77120400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:77112200-77121600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:77112800-77121200	Weak transcription	Esophagus	oesophagus
13	chr11:77113800-77122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:77114000-77120600	Weak transcription	Primary B cells from cord blood	blood
15	chr11:77114200-77119800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr11:77116400-77119400	Enhancers	HUVEC	blood vessel
17	chr11:77116800-77119200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:77117000-77119400	Enhancers	Stomach Mucosa	stomach
19	chr11:77117200-77119400	Enhancers	HMEC	breast
20	chr11:77117200-77120400	Enhancers	Primary T cells from cord blood	blood
21	chr11:77117200-77121400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:77117200-77121600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:77117200-77121800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:77117200-77122000	Weak transcription	Brain Anterior Caudate	brain
25	chr11:77117400-77119400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:77117400-77120200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:77117400-77121200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:77117400-77121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:77117400-77122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:77117600-77119400	Enhancers	Fetal Intestine Large	intestine
31	chr11:77117600-77119800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:77117600-77121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:77117600-77121200	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:77117800-77119400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:77117800-77120200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:77117800-77120400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:77117800-77121000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:77117800-77121200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:77117800-77122200	Weak transcription	Lung	lung
40	chr11:77118000-77119200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:77118200-77119200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:77118200-77119200	Enhancers	Gastric	stomach
43	chr11:77118200-77119200	Enhancers	Rectal Smooth Muscle	rectum
44	chr11:77118200-77119200	Enhancers	HSMM	muscle
45	chr11:77118200-77119200	Enhancers	Osteobl	bone
46	chr11:77118200-77119400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:77118200-77119400	Enhancers	Fetal Intestine Small	intestine
48	chr11:77118200-77119600	Enhancers	HepG2	liver
49	chr11:77118200-77120000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr11:77118400-77119200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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