Variant report

Variant	rs10047408
Chromosome Location	chr11:87025456-87025457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:87021049-87026833	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:87025025..87027495-chr11:87031919..87033616,2	K562	blood:

Variant related genes	Relation type
TMEM135	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11235059	1.00[ASW][hapmap]
rs11235098	1.00[ASW][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235103	1.00[AMR][1000 genomes]
rs11235113	1.00[AMR][1000 genomes]
rs11235114	1.00[AMR][1000 genomes]
rs11235115	1.00[AMR][1000 genomes]
rs11235116	1.00[AMR][1000 genomes]
rs12270666	1.00[AMR][1000 genomes]
rs12275018	1.00[ASW][hapmap];1.00[MEX][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276332	1.00[AMR][1000 genomes]
rs12281665	1.00[ASW][hapmap]
rs12282494	1.00[AMR][1000 genomes]
rs12283625	0.81[AFR][1000 genomes]
rs12287172	1.00[AMR][1000 genomes]
rs12287886	1.00[AMR][1000 genomes]
rs12288952	1.00[AMR][1000 genomes]
rs12295935	1.00[AMR][1000 genomes]
rs17150123	1.00[AMR][1000 genomes]
rs3897610	1.00[AMR][1000 genomes]
rs9804477	1.00[AMR][1000 genomes]
rs9804479	1.00[AMR][1000 genomes]
rs9804554	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv898074	chr11:86963330-87034696	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10047408	NCRNA00200	trans	lymphoblastoid	seeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87004000-87032600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:87006400-87030600	Weak transcription	Dnd41	blood
3	chr11:87010200-87037200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:87010600-87036800	Weak transcription	Psoas Muscle	Psoas
5	chr11:87011800-87036800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:87012000-87032200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:87012000-87034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
9	chr11:87012400-87030400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:87012400-87032200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:87012600-87030200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:87012600-87031000	Weak transcription	Primary T cells from cord blood	blood
13	chr11:87012600-87032200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:87012600-87032200	Weak transcription	Fetal Intestine Large	intestine
15	chr11:87012600-87036000	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:87012600-87036400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:87013200-87025600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:87013200-87032400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:87013200-87034400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:87013400-87032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:87013400-87032200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:87013400-87032200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:87013800-87032800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:87013800-87033000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:87014000-87032200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:87014200-87034000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:87015600-87039800	Weak transcription	Fetal Stomach	stomach
30	chr11:87015800-87028800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:87015800-87040800	Weak transcription	Left Ventricle	heart
32	chr11:87016000-87030000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:87016000-87030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:87016400-87034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:87017400-87033000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:87017600-87032800	Weak transcription	K562	blood
37	chr11:87017800-87030000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:87017800-87032200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:87017800-87035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:87018000-87026200	Weak transcription	Fetal Kidney	kidney
41	chr11:87018000-87039800	Weak transcription	Ovary	ovary
42	chr11:87018000-87040000	Weak transcription	Aorta	Aorta
43	chr11:87018000-87042800	Weak transcription	Lung	lung
44	chr11:87018200-87029000	Weak transcription	Fetal Lung	lung
45	chr11:87018200-87040800	Weak transcription	Small Intestine	intestine
46	chr11:87018400-87032800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:87018600-87032200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:87018600-87032800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:87019600-87026200	Weak transcription	HepG2	liver
50	chr11:87019800-87038000	Weak transcription	A549	lung

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