Variant report

Variant	rs4445056
Chromosome Location	chr6:44071002-44071003
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44067796..44070621-chr6:44070838..44073227,2	K562	blood:
2	chr6:44069971..44072843-chr6:44208426..44210193,2	MCF-7	breast:
3	chr6:44068135..44073086-chr6:44213618..44216207,4	K562	blood:
4	chr6:44064908..44068117-chr6:44068233..44072672,4	MCF-7	breast:
5	chr6:44069212..44071574-chr6:44077643..44079819,2	MCF-7	breast:
6	chr6:44068030..44072338-chr6:44074661..44078042,4	K562	blood:
7	chr6:44064491..44067269-chr6:44068919..44074061,5	MCF-7	breast:
8	chr6:44069394..44072990-chr6:44213138..44216186,3	K562	blood:
9	chr6:44069757..44072959-chr6:44076120..44079069,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10085205	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12526930	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2015676	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2396166	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4334980	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55772024	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6922473	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7743249	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769540	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9472209	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[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
rs4445056	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44044800-44071400	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:44045000-44071800	Weak transcription	Aorta	Aorta
3	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:44052800-44071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:44055400-44071400	Weak transcription	HMEC	breast
6	chr6:44055400-44071800	Weak transcription	Psoas Muscle	Psoas
7	chr6:44055600-44072200	Weak transcription	NH-A	brain
8	chr6:44055800-44071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:44055800-44076000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:44055800-44078800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:44056200-44078400	Weak transcription	Fetal Kidney	kidney
12	chr6:44057600-44071200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:44059600-44079000	Weak transcription	Small Intestine	intestine
15	chr6:44060600-44071400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:44060800-44071200	Weak transcription	Fetal Brain Male	brain
17	chr6:44060800-44071600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:44061600-44071800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:44062400-44071400	Weak transcription	Ovary	ovary
20	chr6:44062600-44071400	Weak transcription	Brain Angular Gyrus	brain
21	chr6:44062600-44071800	Weak transcription	Hela-S3	cervix
22	chr6:44063000-44071400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:44063000-44072000	Weak transcription	Right Ventricle	heart
24	chr6:44063200-44071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:44063200-44076000	Weak transcription	Colonic Mucosa	Colon
26	chr6:44064400-44071800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:44064600-44077600	Weak transcription	Stomach Mucosa	stomach
28	chr6:44065200-44071400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:44065200-44073600	Weak transcription	Pancreas	Pancrea
30	chr6:44065400-44077200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:44066000-44081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:44066200-44071200	Strong transcription	Fetal Muscle Leg	muscle
34	chr6:44066200-44071600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:44066400-44082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:44066800-44071400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr6:44066800-44079400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:44067000-44071400	Weak transcription	HUVEC	blood vessel
39	chr6:44067000-44072800	Strong transcription	Fetal Stomach	stomach
40	chr6:44067000-44077200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:44067000-44084200	Strong transcription	Brain Germinal Matrix	brain
42	chr6:44067000-44084400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:44067200-44072600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:44067200-44085000	Strong transcription	Dnd41	blood
45	chr6:44067600-44071400	Weak transcription	Brain Substantia Nigra	brain
46	chr6:44067600-44073600	Strong transcription	NHLF	lung
47	chr6:44067600-44079600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr6:44067800-44071200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:44067800-44071200	Weak transcription	NHDF-Ad	bronchial
50	chr6:44067800-44071400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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