Variant report

Variant	rs56169314
Chromosome Location	chr12:124448846-124448847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124446241..124449845-chr12:124451666..124454332,3	K562	blood:
2	chr12:124353111..124356110-chr12:124447736..124450126,2	K562	blood:
3	chr12:124439067..124440800-chr12:124448754..124450480,2	K562	blood:

Variant related genes	Relation type
ENSG00000269938	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11608738	0.94[AFR][1000 genomes]
rs11829426	1.00[EUR][1000 genomes]
rs12099459	1.00[EUR][1000 genomes]
rs1343668	1.00[EUR][1000 genomes]
rs1873224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55680811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55996758	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57352016	1.00[EUR][1000 genomes]
rs57531416	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57818143	0.97[AFR][1000 genomes]
rs58157153	0.94[AFR][1000 genomes]
rs58498731	1.00[EUR][1000 genomes]
rs58556542	1.00[EUR][1000 genomes]
rs58621770	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58788131	1.00[EUR][1000 genomes]
rs59002473	1.00[EUR][1000 genomes]
rs59035549	1.00[EUR][1000 genomes]
rs60560821	1.00[EUR][1000 genomes]
rs60980349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61151021	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61740383	1.00[EUR][1000 genomes]
rs61749063	1.00[EUR][1000 genomes]
rs7301547	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409428	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs952631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124427000-124455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
3	chr12:124427800-124453400	Weak transcription	A549	lung
4	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:124428800-124449800	Weak transcription	HSMM	muscle
7	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:124430000-124454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
10	chr12:124430200-124453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:124430200-124455600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:124430400-124449800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:124430400-124450400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:124430400-124454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:124430400-124455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:124430600-124452600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:124431800-124455800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:124434400-124456200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:124434600-124450000	Weak transcription	Thymus	Thymus
24	chr12:124435400-124450800	Weak transcription	HSMMtube	muscle
25	chr12:124435400-124456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:124435600-124450000	Weak transcription	Aorta	Aorta
27	chr12:124435600-124450000	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:124435600-124450200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:124435600-124450600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:124435600-124451000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:124435600-124456000	Weak transcription	Placenta	Placenta
32	chr12:124435800-124456200	Weak transcription	Pancreas	Pancrea
33	chr12:124436200-124453200	Weak transcription	Fetal Brain Male	brain
34	chr12:124436400-124453200	Weak transcription	Brain Substantia Nigra	brain
35	chr12:124436400-124454600	Weak transcription	Brain Germinal Matrix	brain
36	chr12:124436400-124455000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:124436400-124455800	Weak transcription	Brain Angular Gyrus	brain
38	chr12:124436400-124456000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:124436600-124452000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:124437000-124456200	Weak transcription	Gastric	stomach
41	chr12:124437200-124451000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:124437200-124453400	Weak transcription	Adipose Nuclei	Adipose
43	chr12:124437400-124450200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:124437600-124450000	Weak transcription	Osteobl	bone
45	chr12:124437600-124450800	Weak transcription	NH-A	brain
46	chr12:124437600-124451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:124437600-124451000	Weak transcription	NHLF	lung
48	chr12:124442200-124453200	Weak transcription	Primary B cells from cord blood	blood
49	chr12:124443800-124450000	Weak transcription	Fetal Stomach	stomach
50	chr12:124443800-124453200	Weak transcription	Colon Smooth Muscle	Colon

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