Variant report

Variant	rs73305095
Chromosome Location	chr12:50069571-50069572
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	chr12:50067484..50070430-chr12:50082743..50084854,2	K562	blood:
2	chr12:50066009..50068301-chr12:50069038..50071401,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11169023	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299908	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306194	1.00[ASN][1000 genomes]
rs12306785	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310836	1.00[ASN][1000 genomes]
rs12317050	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320273	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322425	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56014465	1.00[ASN][1000 genomes]
rs56140046	1.00[ASN][1000 genomes]
rs61733848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132759	1.00[ASN][1000 genomes]
rs7299820	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314265	1.00[ASN][1000 genomes]
rs73305039	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305072	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73306897	0.86[EUR][1000 genomes]
rs74089562	1.00[ASN][1000 genomes]
rs7963130	1.00[ASN][1000 genomes]
rs7970334	0.85[EUR][1000 genomes];1.00[ASN][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 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	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
2	chr12:50062000-50069600	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:50063200-50069800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:50063800-50070000	Enhancers	Psoas Muscle	Psoas
5	chr12:50063800-50070200	Enhancers	Ovary	ovary
6	chr12:50063800-50070600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:50063800-50070600	Enhancers	Fetal Lung	lung
8	chr12:50064200-50070000	Enhancers	Fetal Muscle Leg	muscle
9	chr12:50064400-50069600	Enhancers	Placenta	Placenta
10	chr12:50064600-50069600	Enhancers	Small Intestine	intestine
11	chr12:50064600-50070200	Enhancers	Fetal Heart	heart
12	chr12:50064600-50070200	Enhancers	Fetal Stomach	stomach
13	chr12:50065200-50069800	Enhancers	Fetal Muscle Trunk	muscle
14	chr12:50065400-50069600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:50065600-50070000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:50065600-50070600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:50065600-50071600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:50065800-50071200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:50065800-50071600	Enhancers	Primary T cells from cord blood	blood
20	chr12:50066000-50069800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:50066200-50069600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:50066600-50069600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:50067800-50075200	Weak transcription	Primary B cells from cord blood	blood
24	chr12:50068000-50069600	Enhancers	HSMM	muscle
25	chr12:50068000-50069800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:50068000-50070000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:50068000-50070200	Enhancers	Brain Hippocampus Middle	brain
28	chr12:50068200-50069600	Enhancers	Brain Angular Gyrus	brain
29	chr12:50068200-50069600	Enhancers	Brain Anterior Caudate	brain
30	chr12:50068200-50069600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr12:50068200-50069600	Enhancers	Osteobl	bone
32	chr12:50068200-50070200	Enhancers	Adipose Nuclei	Adipose
33	chr12:50068200-50071200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:50068200-50072400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:50068200-50077400	Weak transcription	Spleen	Spleen
36	chr12:50068200-50077800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:50068400-50069600	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:50068600-50070000	Enhancers	Brain Substantia Nigra	brain
39	chr12:50068600-50070200	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:50068600-50070600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:50068600-50070600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:50068600-50077600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:50068600-50083600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:50069000-50070000	Enhancers	Colon Smooth Muscle	Colon
45	chr12:50069000-50070200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:50069000-50070800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:50069000-50076800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:50069200-50070000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:50069200-50070800	Weak transcription	GM12878-XiMat	blood
50	chr12:50069200-50072200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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