Variant report

Variant	rs10848291
Chromosome Location	chr12:123499221-123499222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123493552..123495466-chr12:123498313..123500844,2	K562	blood:
2	chr12:123493966..123496957-chr12:123498313..123500222,2	K562	blood:
3	chr12:123491668..123493633-chr12:123498579..123500391,2	K562	blood:
4	chr12:123472287..123474627-chr12:123497209..123499619,2	K562	blood:

Variant related genes	Relation type
ENSG00000265526	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10848148	1.00[AMR][1000 genomes]
rs10848363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10848365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10848429	0.91[AMR][1000 genomes]
rs11060888	1.00[AMR][1000 genomes]
rs11061166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061589	0.91[AMR][1000 genomes]
rs11061601	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302334	0.83[AMR][1000 genomes]
rs12306711	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
2	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
3	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
4	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
7	chr12:123472800-123500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:123473400-123501000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:123473800-123500800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:123489200-123512400	Weak transcription	Aorta	Aorta
11	chr12:123490000-123515800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:123490200-123503600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:123490200-123511000	Weak transcription	Pancreas	Pancrea
14	chr12:123490200-123528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:123490400-123503200	Weak transcription	NHEK	skin
16	chr12:123490400-123503800	Weak transcription	A549	lung
17	chr12:123491200-123503000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:123491600-123526400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:123491800-123503400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:123492000-123518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:123492200-123503600	Weak transcription	Osteobl	bone
22	chr12:123492600-123515800	Weak transcription	Fetal Brain Male	brain
23	chr12:123492800-123504200	Weak transcription	K562	blood
24	chr12:123492800-123509400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:123493600-123517600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:123493800-123503000	Weak transcription	HMEC	breast
27	chr12:123494000-123509000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:123494400-123501800	Weak transcription	HSMMtube	muscle
29	chr12:123494400-123503800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:123494400-123504200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:123494400-123511800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:123494400-123517800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:123494400-123518000	Weak transcription	Brain Substantia Nigra	brain
34	chr12:123494600-123503000	Weak transcription	Fetal Intestine Large	intestine
35	chr12:123494600-123503400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:123494600-123503600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:123494600-123503800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:123494600-123504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:123494600-123510600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:123494600-123510800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:123494800-123517000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:123495000-123514000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:123495200-123512800	Weak transcription	Brain Germinal Matrix	brain
44	chr12:123495600-123509800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:123495800-123503800	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:123496000-123500200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:123496000-123511200	Weak transcription	Esophagus	oesophagus
48	chr12:123496000-123526400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:123496200-123504000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:123496600-123500400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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