Variant report

Variant	rs4768877
Chromosome Location	chr12:50843804-50843805
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	chr12:50838041..50839748-chr12:50842685..50844805,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10506293	0.91[ASN][1000 genomes]
rs10735825	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10747580	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10747581	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783362	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876030	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876034	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169408	0.85[ASN][1000 genomes]
rs11169422	0.86[ASN][1000 genomes]
rs11169427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169440	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11503904	0.82[ASN][1000 genomes]
rs11610442	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12099511	0.92[ASN][1000 genomes]
rs12307602	0.92[ASN][1000 genomes]
rs12578525	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12824882	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17119774	0.92[ASN][1000 genomes]
rs17119778	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17124672	0.92[ASN][1000 genomes]
rs17531020	0.92[ASN][1000 genomes]
rs4238104	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4257057	0.92[ASN][1000 genomes]
rs4298982	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4351895	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4450234	0.86[ASN][1000 genomes]
rs4768878	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768879	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768880	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768928	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768936	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56671180	0.86[ASN][1000 genomes]
rs56989201	0.85[ASN][1000 genomes]
rs57283487	0.81[ASN][1000 genomes]
rs57293958	0.86[ASN][1000 genomes]
rs57578212	0.83[ASN][1000 genomes]
rs57811009	0.91[ASN][1000 genomes]
rs57828015	0.86[ASN][1000 genomes]
rs58500867	0.92[ASN][1000 genomes]
rs58869591	0.83[ASN][1000 genomes]
rs58888905	0.92[ASN][1000 genomes]
rs58916974	0.93[ASN][1000 genomes]
rs59696942	0.87[ASN][1000 genomes]
rs59968707	0.87[ASN][1000 genomes]
rs60010359	0.92[ASN][1000 genomes]
rs60198651	0.85[ASN][1000 genomes]
rs60201334	0.86[ASN][1000 genomes]
rs60242613	0.86[ASN][1000 genomes]
rs60420087	0.90[ASN][1000 genomes]
rs60610745	0.87[ASN][1000 genomes]
rs60743903	0.87[ASN][1000 genomes]
rs61578731	0.87[ASN][1000 genomes]
rs6580753	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6580754	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7133488	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135159	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7138063	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295610	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295698	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7296212	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7299321	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7304017	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7304262	0.84[ASN][1000 genomes]
rs7310094	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7955176	0.86[ASN][1000 genomes]
rs7957033	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7965165	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7974480	0.92[ASN][1000 genomes]
rs7978625	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[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	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:50820000-50845400	Weak transcription	Right Atrium	heart
6	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:50821000-50850600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:50821200-50845000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr12:50821200-50848200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:50821400-50845200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:50821600-50850200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:50821600-50850200	Strong transcription	Fetal Intestine Large	intestine
15	chr12:50821600-50850600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:50821600-50850600	Strong transcription	Dnd41	blood
17	chr12:50821600-50850600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:50821600-50850800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:50821600-50851200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr12:50821600-50851600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:50821600-50851800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:50821600-50856800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:50821600-50863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:50821800-50850600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:50824200-50846000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:50825800-50873000	Strong transcription	Liver	Liver
29	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
30	chr12:50828000-50867200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:50828800-50857400	Weak transcription	Gastric	stomach
32	chr12:50830000-50856800	Weak transcription	Spleen	Spleen
33	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:50833000-50856800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:50834200-50856400	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:50834400-50845400	Weak transcription	Psoas Muscle	Psoas
39	chr12:50834400-50852400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:50834600-50845000	Weak transcription	Fetal Heart	heart
41	chr12:50835200-50853000	Weak transcription	Right Ventricle	heart
42	chr12:50836000-50856600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:50836000-50857800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:50836400-50856600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:50836400-50856800	Weak transcription	Fetal Kidney	kidney
46	chr12:50836400-50866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:50836600-50870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:50836800-50867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr12:50837000-50854600	Weak transcription	Brain Anterior Caudate	brain
50	chr12:50837200-50856800	Weak transcription	Brain Angular Gyrus	brain

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