Variant report

Variant	rs57594106
Chromosome Location	chr12:50841648-50841649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50804657..50806853-chr12:50839732..50842092,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10467057	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467107	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783361	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876033	0.97[EUR][1000 genomes]
rs10876035	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169423	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17124559	0.86[ASN][1000 genomes]
rs17124706	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238105	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4321029	0.80[EUR][1000 genomes]
rs4343103	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424740	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768976	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58723865	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59210472	0.82[EUR][1000 genomes]
rs7138887	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304630	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308184	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305103	0.82[EUR][1000 genomes]
rs73305105	0.82[EUR][1000 genomes]
rs73305121	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305168	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489251	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959284	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964643	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967393	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7970694	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973910	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	esv1820779	chr12:50835060-50858820	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50810600-50856600	Weak transcription	Aorta	Aorta
3	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:50819800-50842400	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:50820000-50845400	Weak transcription	Right Atrium	heart
7	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:50820600-50843400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:50821000-50843000	Strong transcription	Placenta	Placenta
12	chr12:50821000-50850600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:50821200-50845000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr12:50821200-50848200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:50821400-50845200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:50821600-50842800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:50821600-50850200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:50821600-50850200	Strong transcription	Fetal Intestine Large	intestine
19	chr12:50821600-50850600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:50821600-50850600	Strong transcription	Dnd41	blood
21	chr12:50821600-50850600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:50821600-50850800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:50821600-50851200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr12:50821600-50851600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:50821600-50851800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:50821600-50856800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:50821600-50863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:50821800-50850600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:50822000-50843400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:50822000-50843600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:50822200-50842200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:50822600-50842000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:50824200-50846000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:50825800-50873000	Strong transcription	Liver	Liver
37	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
38	chr12:50828000-50867200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:50828600-50843200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:50828800-50857400	Weak transcription	Gastric	stomach
41	chr12:50830000-50856800	Weak transcription	Spleen	Spleen
42	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:50832200-50843000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:50832600-50842600	Strong transcription	Left Ventricle	heart
45	chr12:50833000-50856800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:50834200-50856400	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:50834400-50845400	Weak transcription	Psoas Muscle	Psoas
50	chr12:50834400-50852400	Weak transcription	Placenta Amnion	Placenta Amnion

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