Variant report

Variant	rs6935537
Chromosome Location	chr6:44054459-44054460
allele	C/T
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	chr6:44049188..44054493-chr6:44055504..44059835,8	K562	blood:
3	chr6:44052482..44055153-chr6:44202831..44205817,2	K562	blood:
4	chr6:43751310..43754263-chr6:44053272..44056217,2	K562	blood:
5	chr6:44052110..44055576-chr6:44213408..44216294,4	MCF-7	breast:
6	chr6:44050029..44051784-chr6:44053653..44056587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180992	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2096199	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4610558	0.83[EUR][1000 genomes]
rs56168551	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57139546	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57576544	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59842359	0.81[EUR][1000 genomes]
rs60105057	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66629131	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73429745	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7742030	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7742824	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7752653	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7755223	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7773700	0.82[AMR][1000 genomes];0.83[EUR][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
rs6935537	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44042800-44055000	Weak transcription	Osteobl	bone
2	chr6:44044200-44067000	Weak transcription	NHDF-Ad	bronchial
3	chr6:44044600-44067600	Weak transcription	Spleen	Spleen
4	chr6:44044800-44054600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:44044800-44062200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:44044800-44067000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:44044800-44067400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:44044800-44070200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:44044800-44071400	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:44045000-44067400	Weak transcription	Brain Anterior Caudate	brain
11	chr6:44045000-44071800	Weak transcription	Aorta	Aorta
12	chr6:44045600-44067000	Weak transcription	Fetal Brain Female	brain
13	chr6:44046200-44057000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:44047000-44054600	Weak transcription	Pancreas	Pancrea
15	chr6:44047000-44066600	Weak transcription	Thymus	Thymus
16	chr6:44047200-44056800	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:44047200-44057000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:44047400-44054600	Weak transcription	Fetal Intestine Small	intestine
19	chr6:44047400-44054600	Weak transcription	Fetal Stomach	stomach
20	chr6:44047400-44056800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:44047400-44059000	Weak transcription	Fetal Brain Male	brain
22	chr6:44047400-44061600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:44047400-44061800	Weak transcription	Brain Angular Gyrus	brain
24	chr6:44047400-44062000	Weak transcription	Brain Germinal Matrix	brain
25	chr6:44047400-44062000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:44047400-44067200	Weak transcription	Dnd41	blood
27	chr6:44047400-44067400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:44047400-44067600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:44047400-44069200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:44048800-44060800	Weak transcription	NHLF	lung
32	chr6:44049200-44062000	Weak transcription	Ovary	ovary
33	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:44049400-44067000	Weak transcription	GM12878-XiMat	blood
36	chr6:44049800-44061800	Weak transcription	Fetal Thymus	thymus
37	chr6:44050200-44055800	Enhancers	HepG2	liver
38	chr6:44050600-44056000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:44051200-44056000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:44051600-44067400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:44052200-44054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:44052400-44054600	Weak transcription	Esophagus	oesophagus
43	chr6:44052400-44054600	Weak transcription	Right Ventricle	heart
44	chr6:44052600-44054600	Weak transcription	Left Ventricle	heart
45	chr6:44052600-44054600	Weak transcription	Right Atrium	heart
46	chr6:44052600-44055000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:44052600-44055000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:44052600-44067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:44052600-44071000	Weak transcription	HSMMtube	muscle
50	chr6:44052800-44055000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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