Variant report

Variant	rs7752653
Chromosome Location	chr6:44093808-44093809
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr6:44093642-44093821	K562	blood:	n/a	n/a
2	WRNIP1	chr6:44093649-44094809	GM12878	blood:	n/a	n/a
3	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
4	TBL1XR1	chr6:44093739-44094740	K562	blood:	n/a	n/a
5	POLR2A	chr6:44093405-44095328	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:44093605-44095294	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:44093600-44093960	HepG2	liver:	n/a	n/a
8	TEAD4	chr6:44093609-44094871	K562	blood:	n/a	n/a
9	POLR2A	chr6:44093620-44095269	K562	blood:	n/a	n/a
10	POLR2A	chr6:44093425-44095509	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:44093408-44095791	SK-N-MC	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
2	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
3	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
4	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
5	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
6	chr6:44042539..44044412-chr6:44091796..44094551,2	K562	blood:
7	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
8	chr6:43596367..43598855-chr6:44092530..44095404,4	K562	blood:
9	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
10	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

No data

Variant related genes	Relation type
TMEM63B	TF binding region
ENSG00000172432	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000146232	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2096199	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4610558	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55934950	0.82[ASN][1000 genomes]
rs56168551	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57139546	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57576544	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59842359	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60105057	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60207481	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs66629131	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935537	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73429745	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742030	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7742824	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755223	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7773700	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7752653	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44087400-44094200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:44087800-44094000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr6:44088000-44094000	Weak transcription	Aorta	Aorta
4	chr6:44088000-44094000	Weak transcription	Esophagus	oesophagus
5	chr6:44088600-44094000	Enhancers	Adipose Nuclei	Adipose
6	chr6:44089600-44094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:44090400-44094000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr6:44090400-44094000	Enhancers	Thymus	Thymus
9	chr6:44090400-44094200	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:44090600-44094200	Enhancers	Small Intestine	intestine
11	chr6:44091000-44094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:44091200-44094000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:44091800-44094000	Enhancers	Right Ventricle	heart
14	chr6:44092200-44094200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:44092200-44094400	Transcr. at gene 5' and 3'	K562	blood
16	chr6:44092400-44094200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:44092600-44094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:44092600-44094000	Flanking Active TSS	HMEC	breast
19	chr6:44092600-44094400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:44092800-44094000	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:44092800-44094000	Enhancers	Ovary	ovary
22	chr6:44092800-44094200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:44093000-44094000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:44093000-44094200	Enhancers	Left Ventricle	heart
25	chr6:44093000-44094600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:44093200-44094200	Enhancers	Placenta	Placenta
27	chr6:44093200-44094400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:44093200-44094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:44093200-44096200	Active TSS	Lung	lung
30	chr6:44093400-44094000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:44093400-44094000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:44093400-44094400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr6:44093400-44094400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr6:44093400-44094400	Flanking Active TSS	Hela-S3	cervix
35	chr6:44093400-44094400	Flanking Active TSS	NHLF	lung
36	chr6:44093400-44094600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:44093400-44094600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:44093400-44094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:44093400-44094600	Flanking Active TSS	Dnd41	blood
40	chr6:44093400-44096200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr6:44093600-44094000	Enhancers	Primary B cells from cord blood	blood
42	chr6:44093600-44094000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:44093600-44094000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:44093600-44094000	Enhancers	Brain Substantia Nigra	brain
45	chr6:44093600-44094000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr6:44093600-44094000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr6:44093600-44094200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr6:44093600-44094200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:44093600-44094200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:44093600-44094200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell

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