Variant report

Variant	rs3734694
Chromosome Location	chr6:44118612-44118613
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44116110..44119401-chr6:44222719..44226168,3	MCF-7	breast:
2	chr6:44117525..44119749-chr6:44162549..44165761,3	K562	blood:
3	chr6:44118511..44121325-chr6:44203702..44206845,3	K562	blood:
4	chr6:44118243..44122722-chr6:44213509..44216822,7	K562	blood:
5	chr6:44093185..44096453-chr6:44116790..44121295,7	MCF-7	breast:
6	chr6:44116712..44124292-chr6:44220837..44227181,13	K562	blood:
7	chr6:44117895..44119429-chr6:44199152..44201920,2	K562	blood:
8	chr6:44066542..44068074-chr6:44118017..44119691,2	MCF-7	breast:
9	chr5:133706361..133708033-chr6:44118347..44120356,2	K562	blood:
10	chr6:44098943..44101929-chr6:44117025..44119826,2	MCF-7	breast:
11	chr6:44109933..44111723-chr6:44118302..44120001,2	MCF-7	breast:
12	chr6:44064630..44065296-chr6:44118242..44118763,2	K562	blood:
13	chr6:44113768..44117098-chr6:44117855..44119857,3	MCF-7	breast:
14	chr6:44117982..44119936-chr6:44124617..44126321,2	MCF-7	breast:
15	chr6:44117363..44120323-chr6:44194006..44196819,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119048	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000265700	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000006837	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000273345	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1041523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734695	0.82[CEU][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap]
rs4711769	0.82[ASN][1000 genomes]
rs4714757	0.97[ASN][1000 genomes]
rs4714758	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4714760	0.83[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6458370	0.99[ASN][1000 genomes]
rs6911630	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934989	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296427	0.99[ASN][1000 genomes]
rs9369458	0.82[CEU][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap]
rs9394987	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3734694	LOC221442	cis	cerebellum	SCAN
rs3734694	MRPL14	cis	cerebellum	SCAN
rs3734694	TMEM63B	cis	cerebellum	SCAN
rs3734694	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44096600-44119400	Weak transcription	Right Atrium	heart
2	chr6:44096800-44119400	Weak transcription	HUVEC	blood vessel
3	chr6:44098000-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:44098000-44119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:44100400-44119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:44101200-44119400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:44101400-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:44101800-44119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:44102000-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:44102200-44119800	Strong transcription	Fetal Intestine Small	intestine
12	chr6:44102400-44119400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:44102600-44119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:44103600-44119200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:44103600-44119400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr6:44103600-44119400	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:44103800-44124600	Strong transcription	Fetal Stomach	stomach
18	chr6:44104800-44118800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:44106800-44119400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:44107200-44119000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:44108600-44122600	Weak transcription	A549	lung
22	chr6:44109200-44119200	Weak transcription	Stomach Mucosa	stomach
23	chr6:44109800-44124200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:44111000-44121000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr6:44112200-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:44113000-44118800	Strong transcription	Liver	Liver
27	chr6:44113200-44118800	Strong transcription	Primary T cells from cord blood	blood
28	chr6:44113200-44118800	Strong transcription	Brain Hippocampus Middle	brain
29	chr6:44113200-44119000	Strong transcription	Esophagus	oesophagus
30	chr6:44113200-44119200	Strong transcription	Placenta	Placenta
31	chr6:44113200-44119200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:44113200-44122400	Strong transcription	Fetal Brain Female	brain
33	chr6:44113200-44122400	Strong transcription	NHEK	skin
34	chr6:44113400-44119200	Strong transcription	Brain Germinal Matrix	brain
35	chr6:44113400-44122400	Strong transcription	NHLF	lung
36	chr6:44113600-44119200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:44113600-44119400	Strong transcription	HepG2	liver
38	chr6:44113600-44122600	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:44113800-44119000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:44114000-44119600	Weak transcription	Fetal Brain Male	brain
41	chr6:44114000-44129400	Weak transcription	NHDF-Ad	bronchial
42	chr6:44114200-44128400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:44114200-44129200	Weak transcription	NH-A	brain
44	chr6:44114600-44119200	Strong transcription	K562	blood
45	chr6:44115200-44129400	Weak transcription	Hela-S3	cervix
46	chr6:44115600-44119200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:44115600-44119400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:44115600-44128400	Weak transcription	Dnd41	blood
49	chr6:44116600-44118800	Strong transcription	GM12878-XiMat	blood
50	chr6:44116600-44119400	Weak transcription	Primary B cells from peripheral blood	blood

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