Variant report

Variant	rs10778899
Chromosome Location	chr12:82765901-82765902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10778890	1.00[AFR][1000 genomes]
rs10778893	1.00[AFR][1000 genomes]
rs10778896	1.00[AFR][1000 genomes]
rs2717448	1.00[AFR][1000 genomes]
rs4509843	1.00[AFR][1000 genomes]
rs8181779	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82753200-82767200	Weak transcription	Aorta	Aorta
2	chr12:82753200-82767800	Weak transcription	Esophagus	oesophagus
3	chr12:82753200-82767800	Weak transcription	Lung	lung
4	chr12:82753400-82767400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:82753400-82767800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:82753400-82767800	Weak transcription	Thymus	Thymus
7	chr12:82753400-82768600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:82753400-82786200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:82753600-82767600	Weak transcription	Primary B cells from cord blood	blood
10	chr12:82753600-82777800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:82753600-82782400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:82753600-82799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:82753600-82805200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:82753800-82767200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:82753800-82767600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:82753800-82767600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:82753800-82770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:82753800-82804800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:82754000-82794800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:82754000-82804600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:82754200-82769000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:82754200-82779600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:82754200-82803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:82754400-82767400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:82754400-82767800	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:82754400-82768600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:82754400-82782200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:82754400-82804000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:82754600-82766400	Weak transcription	Brain Angular Gyrus	brain
30	chr12:82754600-82767200	Weak transcription	Brain Substantia Nigra	brain
31	chr12:82754600-82782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:82754600-82794600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:82755600-82802200	Weak transcription	Pancreas	Pancrea
34	chr12:82755800-82766600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:82755800-82766600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:82755800-82767400	Weak transcription	Spleen	Spleen
37	chr12:82755800-82768000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:82755800-82782400	Weak transcription	Gastric	stomach
39	chr12:82756400-82766600	Weak transcription	Fetal Stomach	stomach
40	chr12:82758200-82782400	Weak transcription	Ovary	ovary
41	chr12:82758400-82795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:82758400-82835600	Weak transcription	Psoas Muscle	Psoas
43	chr12:82758600-82767800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:82758600-82777000	Weak transcription	Fetal Heart	heart
45	chr12:82758600-82799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:82760400-82768600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:82760600-82767200	Weak transcription	Adipose Nuclei	Adipose
48	chr12:82761600-82767800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:82761600-82790600	Weak transcription	Brain Anterior Caudate	brain
50	chr12:82761800-82792000	Weak transcription	Stomach Mucosa	stomach

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