Variant report

Variant	rs7129295
Chromosome Location	chr11:85996182-85996183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85993708..85996490-chr11:86003264..86007905,4	K562	blood:

Variant related genes	Relation type
ENSG00000255222	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11234604	1.00[ASN][1000 genomes]
rs11820048	1.00[ASN][1000 genomes]
rs11820262	1.00[ASN][1000 genomes]
rs11820306	1.00[ASN][1000 genomes]
rs11822824	0.86[ASN][1000 genomes]
rs11823516	1.00[ASN][1000 genomes]
rs11825208	1.00[ASN][1000 genomes]
rs2167611	0.97[ASN][1000 genomes]
rs3758879	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57381996	0.83[ASN][1000 genomes]
rs7115858	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116227	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118858	0.86[ASN][1000 genomes]
rs7931249	1.00[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	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898055	chr11:85968623-86000757	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv508643	chr11:85988577-86047719	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7129295	HIRA	trans	lymphoblastoid	RTeQTL
rs7129295	MRPL40	trans	lymphoblastoid	RTeQTL
rs7129295	SNAP29	trans	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
2	chr11:85957800-85997200	Weak transcription	Colonic Mucosa	Colon
3	chr11:85957800-85999800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:85958400-85997200	Weak transcription	Brain Germinal Matrix	brain
5	chr11:85959200-85997600	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:85961000-85997000	Weak transcription	Stomach Mucosa	stomach
7	chr11:85961600-85998000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:85974800-86000000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:85975000-86002600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:85984400-86002800	Weak transcription	Fetal Intestine Small	intestine
11	chr11:85986000-85997200	Weak transcription	Pancreas	Pancrea
12	chr11:85986000-86002600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:85987400-85997600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:85988800-86000000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:85989200-85999800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:85989600-85998200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:85989600-86002800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:85989600-86002800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:85989600-86003000	Weak transcription	NH-A	brain
20	chr11:85989800-85999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:85990600-85998200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:85990600-86002400	Weak transcription	HepG2	liver
23	chr11:85990800-86002600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:85991000-85996400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:85991000-85997000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:85991000-85997000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:85991200-85997600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:85991200-85998000	Weak transcription	HUVEC	blood vessel
29	chr11:85991200-86002600	Weak transcription	Osteobl	bone
30	chr11:85991400-85998000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:85991400-85998200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:85991400-86002600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:85991400-86003200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:85991600-85998000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:85991600-86002600	Weak transcription	NHDF-Ad	bronchial
36	chr11:85991600-86002800	Weak transcription	Placenta	Placenta
37	chr11:85992200-85998200	Weak transcription	Primary B cells from cord blood	blood
38	chr11:85992200-86000800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:85992200-86003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:85992400-85997600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:85994200-85998000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:85995000-85996200	Strong transcription	Fetal Thymus	thymus
43	chr11:85995000-85996200	Strong transcription	Left Ventricle	heart
44	chr11:85995000-85996400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:85995000-85996400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:85995000-85996400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:85995000-85996400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:85995000-85996600	Strong transcription	Fetal Brain Female	brain
49	chr11:85995000-85997200	Strong transcription	Fetal Stomach	stomach
50	chr11:85995400-85996400	Weak transcription	Aorta	Aorta

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