Variant report

Variant	rs11211024
Chromosome Location	chr1:45184306-45184307
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45182184..45184669-chr1:45395363..45398123,2	K562	blood:
2	chr1:45045874..45048149-chr1:45182908..45185522,3	K562	blood:
3	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
4	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
5	chr1:45183934..45186211-chr1:45344753..45346709,2	K562	blood:
6	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
7	chr1:45183882..45187540-chr1:45263145..45267405,5	MCF-7	breast:
8	chr1:28835587..28839180-chr1:45182832..45185417,3	K562	blood:
9	chr1:45183794..45190315-chr1:45281186..45287888,32	MCF-7	breast:
10	chr1:45183375..45186352-chr1:45956867..45960308,3	K562	blood:
11	chr1:45183896..45185902-chr1:45210386..45212162,2	MCF-7	breast:
12	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
13	chr1:45045874..45048115-chr1:45182908..45185522,2	K562	blood:
14	chr1:28835587..28837886-chr1:45182832..45185417,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000070759	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000253039	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000187147	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10890313	0.90[MEX][hapmap];0.82[MKK][hapmap]
rs11211025	0.84[CEU][hapmap]
rs12126557	0.91[CEU][hapmap]
rs16832210	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
7	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11211024	SNORD38B	cis	cerebellum	SCAN
rs11211024	SNORD55	cis	cerebellum	SCAN
rs11211024	TIE1	cis	parietal	SCAN
rs11211024	SNORD55	cis	parietal	SCAN
rs11211024	ZNF642	cis	cerebellum	SCAN
rs11211024	EIF2B3	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45174400-45190400	Weak transcription	Lung	lung
2	chr1:45180800-45185800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:45180800-45187200	Weak transcription	Right Atrium	heart
4	chr1:45181000-45187800	Weak transcription	Placenta	Placenta
5	chr1:45181200-45184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:45181200-45184800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:45181200-45184800	Weak transcription	Thymus	Thymus
8	chr1:45181200-45185000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:45181200-45185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:45181200-45185000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:45181200-45185000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:45181200-45185400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:45181200-45186800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:45181200-45186800	Weak transcription	A549	lung
15	chr1:45181200-45187000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:45181200-45187200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:45181200-45188800	Weak transcription	Liver	Liver
18	chr1:45181200-45194800	Weak transcription	Brain Anterior Caudate	brain
19	chr1:45181400-45185200	Weak transcription	Dnd41	blood
20	chr1:45181600-45184800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:45181600-45186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:45181800-45184800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:45181800-45185000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:45181800-45185200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:45181800-45185600	Enhancers	Fetal Brain Male	brain
26	chr1:45182800-45186800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:45183000-45184400	Enhancers	NHLF	lung
28	chr1:45183000-45184600	Enhancers	HSMM	muscle
29	chr1:45183000-45185000	Weak transcription	NHDF-Ad	bronchial
30	chr1:45183000-45185400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:45183000-45187200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr1:45183000-45187600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:45183000-45188800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr1:45183000-45188800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr1:45183200-45185400	Enhancers	Fetal Brain Female	brain
36	chr1:45183200-45187400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:45183200-45189000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:45183600-45184400	Enhancers	Fetal Stomach	stomach
39	chr1:45183600-45184800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:45183600-45184800	Weak transcription	Osteobl	bone
41	chr1:45183600-45185800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr1:45183800-45185000	Weak transcription	Primary B cells from cord blood	blood
43	chr1:45183800-45186200	Enhancers	Spleen	Spleen
44	chr1:45184000-45187800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:45184000-45189000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:45184000-45189200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:45184000-45191000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:45184200-45184400	Bivalent Enhancer	K562	blood
49	chr1:45184200-45184600	Weak transcription	Primary T cells from cord blood	blood
50	chr1:45184200-45184600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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