Variant report

Variant	rs4529751
Chromosome Location	chr1:45182817-45182818
allele	A/G
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	chr1:45182184..45184669-chr1:45395363..45398123,2	K562	blood:
2	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
3	chr1:45182151..45183755-chr1:45311180..45313361,2	K562	blood:
4	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
5	chr1:45180843..45183457-chr1:45283985..45285901,3	MCF-7	breast:
6	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
7	chr1:45181918..45183928-chr1:45263993..45265560,2	MCF-7	breast:
8	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
9	chr1:45180997..45183631-chr1:45241044..45242839,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173846	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000253039	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000225721	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10127448	0.80[ASN][1000 genomes]
rs10890314	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6671255	0.81[ASN][1000 genomes]
rs6693615	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9429055	0.88[ASN][1000 genomes]
rs9988580	0.81[ASN][1000 genomes]

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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45174400-45183000	Weak transcription	NHLF	lung
2	chr1:45174400-45190400	Weak transcription	Lung	lung
3	chr1:45179600-45183800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:45180800-45183000	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:45180800-45185800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:45180800-45187200	Weak transcription	Right Atrium	heart
7	chr1:45181000-45183000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:45181000-45183200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:45181000-45183400	Weak transcription	Stomach Mucosa	stomach
10	chr1:45181000-45187800	Weak transcription	Placenta	Placenta
11	chr1:45181200-45183000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:45181200-45183000	Weak transcription	Primary T cells from cord blood	blood
13	chr1:45181200-45183000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:45181200-45183000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:45181200-45183000	Weak transcription	Fetal Stomach	stomach
16	chr1:45181200-45183000	Enhancers	GM12878-XiMat	blood
17	chr1:45181200-45183800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:45181200-45183800	Weak transcription	Spleen	Spleen
19	chr1:45181200-45184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:45181200-45184800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:45181200-45184800	Weak transcription	Thymus	Thymus
22	chr1:45181200-45185000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:45181200-45185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:45181200-45185000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:45181200-45185000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:45181200-45185400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:45181200-45186800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:45181200-45186800	Weak transcription	A549	lung
29	chr1:45181200-45187000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:45181200-45187200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:45181200-45188800	Weak transcription	Liver	Liver
32	chr1:45181200-45194800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:45181400-45183000	Weak transcription	Fetal Thymus	thymus
34	chr1:45181400-45183200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:45181400-45185200	Weak transcription	Dnd41	blood
36	chr1:45181600-45183000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:45181600-45184800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:45181600-45186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:45181800-45183000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:45181800-45183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:45181800-45183200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:45181800-45184800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:45181800-45185000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:45181800-45185200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:45181800-45185600	Enhancers	Fetal Brain Male	brain
46	chr1:45182000-45183000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:45182000-45183000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr1:45182000-45183000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:45182000-45183200	Weak transcription	Primary B cells from cord blood	blood
50	chr1:45182000-45183200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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