Variant report

Variant	rs11833254
Chromosome Location	chr12:57142172-57142173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57133745..57135616-chr12:57141090..57143853,2	K562	blood:
2	chr12:57115470..57120255-chr12:57138569..57143962,5	MCF-7	breast:
3	chr12:57134586..57136693-chr12:57141428..57143193,2	MCF-7	breast:
4	chr12:57123610..57126274-chr12:57139303..57142225,2	K562	blood:
5	chr12:57117372..57120851-chr12:57140459..57146973,9	MCF-7	breast:
6	chr12:57116864..57121762-chr12:57140480..57149366,20	K562	blood:
7	chr12:57038563..57041250-chr12:57140059..57142770,2	K562	blood:
8	chr12:57117044..57122605-chr12:57141917..57149366,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207031	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000110955	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11833209	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833282	0.87[AFR][1000 genomes]
rs11837737	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837790	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17118953	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55962252	0.86[AFR][1000 genomes]
rs56258039	0.81[AMR][1000 genomes]
rs60574031	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57119400-57145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:57119800-57144600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:57119800-57144800	Weak transcription	NHLF	lung
4	chr12:57119800-57145000	Weak transcription	Colonic Mucosa	Colon
5	chr12:57119800-57145000	Weak transcription	Right Ventricle	heart
6	chr12:57120000-57144400	Weak transcription	Fetal Brain Male	brain
7	chr12:57120000-57144600	Weak transcription	NHDF-Ad	bronchial
8	chr12:57120000-57144800	Weak transcription	Fetal Heart	heart
9	chr12:57120000-57144800	Weak transcription	Fetal Kidney	kidney
10	chr12:57120000-57144800	Weak transcription	NH-A	brain
11	chr12:57120000-57145000	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:57120000-57145200	Weak transcription	Aorta	Aorta
13	chr12:57120200-57144800	Weak transcription	Osteobl	bone
14	chr12:57120200-57145000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:57120400-57144000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:57120600-57144800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:57120800-57143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:57120800-57144000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:57121200-57143800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:57121400-57144200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:57121400-57144600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:57122000-57143000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:57122000-57144000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:57122200-57143600	Strong transcription	Fetal Thymus	thymus
25	chr12:57122400-57142400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:57122400-57143800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:57122400-57144200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:57123000-57142800	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:57123600-57144200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:57124800-57142200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:57124800-57143200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:57127000-57145000	Weak transcription	Psoas Muscle	Psoas
33	chr12:57130400-57144200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:57130600-57142200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:57130800-57145000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:57131000-57145000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:57131000-57145200	Weak transcription	Pancreas	Pancrea
38	chr12:57131400-57145200	Weak transcription	Small Intestine	intestine
39	chr12:57132000-57145200	Weak transcription	Spleen	Spleen
40	chr12:57133400-57144800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:57133600-57144800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:57133600-57145000	Weak transcription	HSMM	muscle
43	chr12:57134400-57144800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:57135000-57143400	Strong transcription	K562	blood
45	chr12:57135000-57145000	Weak transcription	Esophagus	oesophagus
46	chr12:57135000-57145600	Weak transcription	Lung	lung
47	chr12:57135200-57143800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:57135200-57145000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:57135400-57144400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:57135400-57144800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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