Variant report

Variant	rs59794444
Chromosome Location	chr16:75650195-75650196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75599248..75601815-chr16:75649137..75652321,3	MCF-7	breast:
2	chr16:75639999..75645390-chr16:75646099..75650752,7	K562	blood:
3	chr16:75649568..75651157-chr16:75678985..75681587,2	K562	blood:
4	chr16:75589354..75591746-chr16:75649849..75652545,2	K562	blood:
5	chr16:75649115..75650926-chr16:75653662..75655747,3	MCF-7	breast:
6	chr16:75648280..75653154-chr16:75655873..75659174,5	K562	blood:

Variant related genes	Relation type
ENSG00000259992	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10163345	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11546854	1.00[EUR][1000 genomes]
rs11860980	0.89[EUR][1000 genomes]
rs11862453	0.89[EUR][1000 genomes]
rs11864677	0.86[EUR][1000 genomes]
rs11866252	1.00[EUR][1000 genomes]
rs16941008	1.00[EUR][1000 genomes]
rs16942022	0.94[EUR][1000 genomes]
rs16942809	0.83[EUR][1000 genomes]
rs16942870	0.83[EUR][1000 genomes]
rs1865492	0.96[EUR][1000 genomes]
rs1991052	0.83[EUR][1000 genomes]
rs2233803	0.96[EUR][1000 genomes]
rs2233805	0.96[EUR][1000 genomes]
rs2233810	0.96[EUR][1000 genomes]
rs56892159	0.94[EUR][1000 genomes]
rs58000098	1.00[EUR][1000 genomes]
rs58657577	1.00[EUR][1000 genomes]
rs58996069	1.00[EUR][1000 genomes]
rs59624897	1.00[EUR][1000 genomes]
rs60376290	0.96[EUR][1000 genomes]
rs60415088	0.94[EUR][1000 genomes]
rs60545422	0.94[EUR][1000 genomes]
rs60664312	1.00[EUR][1000 genomes]
rs61588474	1.00[EUR][1000 genomes]
rs62619985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834	0.98[EUR][1000 genomes]
rs7186790	0.94[EUR][1000 genomes]
rs7193257	0.96[EUR][1000 genomes]
rs7195089	0.94[EUR][1000 genomes]
rs73613267	0.89[EUR][1000 genomes]
rs73613272	0.89[EUR][1000 genomes]
rs73615089	0.94[EUR][1000 genomes]
rs8051771	1.00[EUR][1000 genomes]
rs9989360	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59794444	KARS	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75629000-75650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:75629600-75654800	Strong transcription	Fetal Stomach	stomach
3	chr16:75630600-75654600	Strong transcription	Fetal Intestine Large	intestine
4	chr16:75631400-75654600	Strong transcription	Brain Hippocampus Middle	brain
5	chr16:75631400-75654600	Strong transcription	Fetal Muscle Leg	muscle
6	chr16:75631400-75655200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr16:75632600-75654800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:75633000-75654400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr16:75633000-75654400	Strong transcription	Fetal Thymus	thymus
10	chr16:75633200-75654800	Strong transcription	Liver	Liver
11	chr16:75633400-75653200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr16:75634400-75654600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:75634400-75654800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:75636200-75651200	Strong transcription	Hela-S3	cervix
15	chr16:75636400-75653800	Strong transcription	Placenta	Placenta
16	chr16:75636600-75653800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr16:75636600-75654200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr16:75636600-75654400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:75636600-75654400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr16:75636600-75654800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:75636800-75654200	Strong transcription	Fetal Brain Female	brain
22	chr16:75637000-75654400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr16:75637000-75654400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:75637000-75654600	Strong transcription	Primary T cells from cord blood	blood
25	chr16:75637000-75654600	Strong transcription	Fetal Intestine Small	intestine
26	chr16:75637200-75653400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:75637200-75654400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:75637400-75654600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:75637400-75654600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr16:75637400-75654800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:75637400-75655200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:75637800-75650400	Weak transcription	Fetal Brain Male	brain
33	chr16:75637800-75654800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:75637800-75655200	Weak transcription	Stomach Mucosa	stomach
35	chr16:75638000-75654000	Strong transcription	Dnd41	blood
36	chr16:75638000-75655000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr16:75638800-75654600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:75639200-75654400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:75639400-75654600	Strong transcription	Thymus	Thymus
40	chr16:75639400-75654800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr16:75639800-75653600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr16:75639800-75654600	Strong transcription	Brain Anterior Caudate	brain
43	chr16:75639800-75654800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:75640000-75654200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr16:75640000-75654400	Strong transcription	Adipose Nuclei	Adipose
46	chr16:75640000-75654600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:75640200-75653600	Strong transcription	Brain Germinal Matrix	brain
48	chr16:75640200-75654600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr16:75640200-75654600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr16:75640200-75654600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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