Variant report

Variant	rs7115444
Chromosome Location	chr11:77555824-77555825
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	chr11:77552027..77554925-chr11:77555085..77557941,2	K562	blood:

Variant related genes	Relation type
ENSG00000087884	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1045590	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12417115	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1793340	0.81[ASN][1000 genomes]
rs28653530	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs516529	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55190	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs569072	0.90[EUR][1000 genomes]
rs572541	0.87[EUR][1000 genomes]
rs585513	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs634477	0.81[ASN][1000 genomes]
rs7117813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118800	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7119332	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7129325	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7931137	0.81[AMR][1000 genomes];0.88[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	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77533400-77565600	Weak transcription	Gastric	stomach
2	chr11:77533400-77565600	Weak transcription	Pancreas	Pancrea
3	chr11:77535400-77565600	Weak transcription	HepG2	liver
4	chr11:77544600-77564400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:77544600-77565400	Weak transcription	Spleen	Spleen
6	chr11:77544800-77564400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:77544800-77565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:77547200-77565800	Weak transcription	Fetal Heart	heart
9	chr11:77548800-77582800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:77550000-77565600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:77550400-77557200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:77550800-77564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:77550800-77565400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:77551200-77558400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:77551400-77565400	Weak transcription	Fetal Thymus	thymus
16	chr11:77551800-77556600	Strong transcription	Ovary	ovary
17	chr11:77552000-77560400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:77552000-77562600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:77552200-77556600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr11:77552200-77556800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:77552200-77557400	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:77552200-77558600	Strong transcription	Brain Hippocampus Middle	brain
23	chr11:77552200-77562800	Strong transcription	Liver	Liver
24	chr11:77552200-77563000	Strong transcription	Left Ventricle	heart
25	chr11:77552200-77563600	Strong transcription	Adipose Nuclei	Adipose
26	chr11:77552200-77565800	Weak transcription	NHLF	lung
27	chr11:77552600-77564400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:77552600-77565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:77552600-77565400	Weak transcription	Thymus	Thymus
30	chr11:77552800-77558800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:77552800-77562200	Weak transcription	Small Intestine	intestine
32	chr11:77553000-77565000	Weak transcription	Right Ventricle	heart
33	chr11:77553000-77565600	Weak transcription	Aorta	Aorta
34	chr11:77553200-77565600	Weak transcription	Psoas Muscle	Psoas
35	chr11:77553400-77556200	Strong transcription	Primary T cells from cord blood	blood
36	chr11:77553600-77557600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:77553800-77556200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:77553800-77556600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:77553800-77565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:77554000-77556000	Strong transcription	Brain Anterior Caudate	brain
41	chr11:77554000-77556200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr11:77554000-77557400	Strong transcription	Brain Substantia Nigra	brain
43	chr11:77554000-77558200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:77554000-77565400	Weak transcription	NH-A	brain
45	chr11:77554000-77565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:77554200-77556000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:77554200-77556000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:77554200-77556200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:77554200-77556600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:77554200-77556800	Strong transcription	Brain Germinal Matrix	brain

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