Variant report

Variant	rs56989201
Chromosome Location	chr12:50840303-50840304
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	chr12:50804657..50806853-chr12:50839732..50842092,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10506293	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10747580	0.89[ASN][1000 genomes]
rs10747581	0.89[ASN][1000 genomes]
rs10783362	0.81[ASN][1000 genomes]
rs10876034	0.82[ASN][1000 genomes]
rs11169422	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169427	0.89[ASN][1000 genomes]
rs11169440	0.82[ASN][1000 genomes]
rs12099511	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12307602	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12578525	0.81[ASN][1000 genomes]
rs17119774	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17119778	0.86[ASN][1000 genomes]
rs17124672	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17531020	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4238104	0.81[ASN][1000 genomes]
rs4257057	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4298982	0.82[ASN][1000 genomes]
rs4351895	0.81[ASN][1000 genomes]
rs4450234	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768877	0.85[ASN][1000 genomes]
rs4768879	0.81[ASN][1000 genomes]
rs4768928	0.82[ASN][1000 genomes]
rs4768936	0.83[ASN][1000 genomes]
rs56671180	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57283487	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57293958	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57578212	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57811009	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57828015	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58500867	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58869591	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58888905	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58915267	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58916974	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59696942	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59968707	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60010359	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60198651	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60201334	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60242613	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60396677	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60420087	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60610745	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60743903	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61578731	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6580753	0.81[ASN][1000 genomes]
rs6580754	0.80[ASN][1000 genomes]
rs7133488	0.86[ASN][1000 genomes]
rs7135159	0.85[ASN][1000 genomes]
rs7138063	0.82[ASN][1000 genomes]
rs7295610	0.86[ASN][1000 genomes]
rs7296212	0.82[ASN][1000 genomes]
rs7299321	0.86[ASN][1000 genomes]
rs7304262	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955176	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7957033	0.81[ASN][1000 genomes]
rs7965165	0.89[ASN][1000 genomes]
rs7974480	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978625	0.86[ASN][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	chr12:50820000-50841400	Weak transcription	Esophagus	oesophagus
7	chr12:50820000-50845400	Weak transcription	Right Atrium	heart
8	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:50820600-50843400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:50821000-50841600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:50821000-50843000	Strong transcription	Placenta	Placenta
14	chr12:50821000-50850600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:50821200-50845000	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr12:50821200-50848200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr12:50821400-50845200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:50821600-50842800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:50821600-50850200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:50821600-50850200	Strong transcription	Fetal Intestine Large	intestine
21	chr12:50821600-50850600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:50821600-50850600	Strong transcription	Dnd41	blood
23	chr12:50821600-50850600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:50821600-50850800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:50821600-50851200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:50821600-50851600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:50821600-50851800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:50821600-50856800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:50821600-50863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:50821800-50850600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:50822000-50841400	Strong transcription	Osteobl	bone
34	chr12:50822000-50843400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:50822000-50843600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:50822200-50842200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:50822600-50842000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:50824200-50846000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:50825800-50873000	Strong transcription	Liver	Liver
40	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
41	chr12:50828000-50867200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:50828600-50843200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:50828800-50857400	Weak transcription	Gastric	stomach
44	chr12:50830000-50856800	Weak transcription	Spleen	Spleen
45	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:50832200-50843000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:50832600-50842600	Strong transcription	Left Ventricle	heart
48	chr12:50833000-50856800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:50834200-50856400	Weak transcription	Colon Smooth Muscle	Colon

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