Variant report

Variant	rs57139546
Chromosome Location	chr6:44067745-44067746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44065655..44068121-chr6:44191866..44194342,2	MCF-7	breast:
2	chr6:44066604..44068973-chr6:44089400..44092003,2	MCF-7	breast:
3	chr6:44059285..44062949-chr6:44063714..44068721,8	K562	blood:
4	chr6:44066542..44068074-chr6:44118017..44119691,2	MCF-7	breast:
5	chr6:44067509..44068101-chr6:44205599..44206209,2	MCF-7	breast:
6	chr6:43732418..43734383-chr6:44067605..44069368,2	K562	blood:
7	chr6:44067430..44069915-chr6:44071632..44073899,2	MCF-7	breast:
8	chr6:44064144..44068096-chr6:44213556..44216776,6	K562	blood:
9	chr6:44067492..44068479-chr6:44119267..44120182,8	MCF-7	breast:
10	chr6:44064908..44068117-chr6:44068233..44072672,4	MCF-7	breast:
11	chr6:44067253..44068005-chr6:44119288..44119882,2	K562	blood:
12	chr6:44047147..44049384-chr6:44064492..44067747,3	K562	blood:
13	chr6:44064372..44068377-chr6:44222364..44225900,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157593	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	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4610558	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55934950	0.85[ASN][1000 genomes]
rs56168551	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57576544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59842359	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60105057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60207481	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs66629131	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6935537	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73429745	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7742030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752653	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755223	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7773700	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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
rs57139546	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44044800-44070200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:44044800-44071400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:44045000-44071800	Weak transcription	Aorta	Aorta
4	chr6:44047400-44069200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:44052600-44071000	Weak transcription	HSMMtube	muscle
7	chr6:44052800-44071000	Weak transcription	Placenta	Placenta
8	chr6:44052800-44071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:44053000-44070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:44055000-44068000	Weak transcription	Esophagus	oesophagus
11	chr6:44055200-44068000	Weak transcription	Gastric	stomach
12	chr6:44055200-44068000	Weak transcription	Right Atrium	heart
13	chr6:44055400-44067800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:44055400-44067800	Weak transcription	Osteobl	bone
15	chr6:44055400-44068000	Weak transcription	Left Ventricle	heart
16	chr6:44055400-44069800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:44055400-44071400	Weak transcription	HMEC	breast
18	chr6:44055400-44071800	Weak transcription	Psoas Muscle	Psoas
19	chr6:44055600-44072200	Weak transcription	NH-A	brain
20	chr6:44055800-44071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:44055800-44076000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:44055800-44078800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:44056200-44078400	Weak transcription	Fetal Kidney	kidney
24	chr6:44057600-44071200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:44059600-44079000	Weak transcription	Small Intestine	intestine
27	chr6:44060400-44070000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:44060600-44071400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:44060800-44071200	Weak transcription	Fetal Brain Male	brain
30	chr6:44060800-44071600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:44061000-44068000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:44061600-44071800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:44062400-44071400	Weak transcription	Ovary	ovary
34	chr6:44062600-44071400	Weak transcription	Brain Angular Gyrus	brain
35	chr6:44062600-44071800	Weak transcription	Hela-S3	cervix
36	chr6:44062800-44069400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:44063000-44068000	Weak transcription	Adipose Nuclei	Adipose
38	chr6:44063000-44071400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:44063000-44072000	Weak transcription	Right Ventricle	heart
40	chr6:44063200-44068000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:44063200-44071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:44063200-44076000	Weak transcription	Colonic Mucosa	Colon
43	chr6:44064000-44068800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:44064400-44071800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:44064600-44077600	Weak transcription	Stomach Mucosa	stomach
46	chr6:44065200-44071400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:44065200-44073600	Weak transcription	Pancreas	Pancrea
48	chr6:44065400-44077200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:44065600-44069000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:44065800-44070000	Strong transcription	K562	blood

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