Variant report

Variant	rs111329993
Chromosome Location	chr1:45283801-45283802
allele	-/AAAAAG
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45203367..45205545-chr1:45283633..45285875,3	MCF-7	breast:
2	chr1:45246681..45259677-chr1:45281336..45290057,25	MCF-7	breast:
3	chr1:45183794..45190315-chr1:45281186..45287888,32	MCF-7	breast:
4	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
5	chr1:45283441..45287322-chr1:45806283..45809735,5	K562	blood:
6	chr1:45282334..45285552-chr1:45442428..45444971,3	K562	blood:
7	chr1:45283791..45286747-chr1:45955379..45957255,3	MCF-7	breast:
8	chr1:45282564..45285374-chr1:45331380..45332950,2	K562	blood:
9	chr1:45283510..45287262-chr1:45964108..45968951,6	K562	blood:
10	chr1:45282320..45290015-chr1:45470338..45482903,45	K562	blood:
11	chr1:11968061..11969967-chr1:45283683..45286236,2	MCF-7	breast:
12	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
13	chr1:45193443..45200768-chr1:45280884..45289784,25	MCF-7	breast:
14	chr1:45282917..45288387-chr1:45449365..45456835,12	K562	blood:
15	chr1:45283391..45288738-chr1:46048072..46051277,6	K562	blood:
16	chr1:45282552..45286546-chr1:45802804..45805880,5	K562	blood:
17	chr1:45282552..45287322-chr1:45800975..45809178,15	K562	blood:
18	chr1:45282724..45285089-chr1:70684930..70687197,2	K562	blood:
19	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
20	chr1:45283389..45288095-chr1:45474959..45480313,6	MCF-7	breast:
21	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
22	chr1:45239959..45246724-chr1:45282430..45287057,13	MCF-7	breast:
23	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
24	chr1:45282609..45288514-chr1:45767803..45773154,13	K562	blood:
25	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
26	chr1:45239429..45243402-chr1:45282541..45287001,15	MCF-7	breast:
27	chr1:45283607..45286477-chr11:65634041..65636204,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000070785	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000232369	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000070759	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000228988	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000162415	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	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
5	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
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv870773	chr1:45259295-45287306	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
12	esv3319924	chr1:45278921-45283844	Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	esv3445770	chr1:45278947-45283870	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	esv3424987	chr1:45278957-45283908	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	esv3512041	chr1:45279006-45283809	Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	esv3512042	chr1:45279006-45283809	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45278000-45284800	Weak transcription	Hela-S3	cervix
2	chr1:45278200-45284800	Weak transcription	K562	blood
3	chr1:45279400-45284800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:45279400-45285000	Weak transcription	Fetal Heart	heart
5	chr1:45279600-45284800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:45279800-45284000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:45279800-45284800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:45279800-45284800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:45279800-45284800	Weak transcription	Aorta	Aorta
10	chr1:45279800-45284800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:45279800-45284800	Weak transcription	Pancreas	Pancrea
12	chr1:45279800-45284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:45279800-45285000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:45279800-45285000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:45279800-45285000	Weak transcription	Ovary	ovary
16	chr1:45279800-45285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:45279800-45285800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:45280000-45284000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:45280000-45284800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:45280000-45284800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:45280000-45284800	Weak transcription	Adipose Nuclei	Adipose
22	chr1:45280000-45284800	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:45280000-45284800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:45280000-45285000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:45280200-45284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:45280200-45284800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:45280200-45284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:45280200-45284800	Weak transcription	Brain Anterior Caudate	brain
29	chr1:45280200-45284800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:45280200-45284800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:45280200-45284800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:45280200-45285000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:45280200-45285000	Weak transcription	Left Ventricle	heart
34	chr1:45280400-45284800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:45280400-45284800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:45280600-45284800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:45280800-45284200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:45280800-45284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:45280800-45284800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:45280800-45284800	Weak transcription	Liver	Liver
41	chr1:45280800-45284800	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:45280800-45284800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:45280800-45284800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:45280800-45285200	Weak transcription	Esophagus	oesophagus
45	chr1:45281000-45284000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:45281000-45284200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:45281000-45284200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:45281000-45284800	Weak transcription	Fetal Thymus	thymus
49	chr1:45281000-45284800	Weak transcription	GM12878-XiMat	blood
50	chr1:45281200-45284800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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