Variant report

Variant	rs7755223
Chromosome Location	chr6:44055333-44055334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44052090..44055335-chr6:44093591..44096636,4	MCF-7	breast:
2	chr6:43738183..43740736-chr6:44055058..44057255,2	K562	blood:
3	chr16:51575836..51576726-chr6:44054702..44055415,2	MCF-7	breast:
4	chr6:43751310..43754263-chr6:44053272..44056217,2	K562	blood:
5	chr6:44052110..44055576-chr6:44213408..44216294,4	MCF-7	breast:
6	chr6:43738183..43740736-chr6:44054818..44057255,3	K562	blood:
7	chr6:44050029..44051784-chr6:44053653..44056587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272114	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000096384	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	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4610558	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55934950	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56168551	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57139546	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57576544	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59842359	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60105057	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60207481	0.92[ASN][1000 genomes]
rs66629131	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6935537	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73429745	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7742030	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7742824	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7752653	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7773700	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[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
rs7755223	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44044200-44067000	Weak transcription	NHDF-Ad	bronchial
2	chr6:44044600-44067600	Weak transcription	Spleen	Spleen
3	chr6:44044800-44062200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:44044800-44067000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:44044800-44067400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:44044800-44070200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:44044800-44071400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:44045000-44067400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:44045000-44071800	Weak transcription	Aorta	Aorta
10	chr6:44045600-44067000	Weak transcription	Fetal Brain Female	brain
11	chr6:44046200-44057000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:44047000-44066600	Weak transcription	Thymus	Thymus
13	chr6:44047200-44056800	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:44047200-44057000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:44047400-44056800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:44047400-44059000	Weak transcription	Fetal Brain Male	brain
17	chr6:44047400-44061600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:44047400-44061800	Weak transcription	Brain Angular Gyrus	brain
19	chr6:44047400-44062000	Weak transcription	Brain Germinal Matrix	brain
20	chr6:44047400-44062000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:44047400-44067200	Weak transcription	Dnd41	blood
22	chr6:44047400-44067400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:44047400-44067600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:44047400-44069200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:44048800-44060800	Weak transcription	NHLF	lung
27	chr6:44049200-44062000	Weak transcription	Ovary	ovary
28	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:44049400-44067000	Weak transcription	GM12878-XiMat	blood
31	chr6:44049800-44061800	Weak transcription	Fetal Thymus	thymus
32	chr6:44050200-44055800	Enhancers	HepG2	liver
33	chr6:44050600-44056000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:44051200-44056000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:44051600-44067400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:44052600-44067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:44052600-44071000	Weak transcription	HSMMtube	muscle
38	chr6:44052800-44057000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:44052800-44061600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:44052800-44067000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:44052800-44067400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:44052800-44071000	Weak transcription	Placenta	Placenta
43	chr6:44052800-44071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:44053000-44067000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:44053000-44067000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:44053000-44070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:44053200-44055400	Enhancers	Psoas Muscle	Psoas
48	chr6:44053200-44056600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:44053200-44061600	Weak transcription	NHEK	skin
50	chr6:44053400-44055800	Enhancers	Skeletal Muscle Male	skeletal muscle

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