Variant report

Variant	rs542904632
Chromosome Location	chr1:45483079-45483080
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45483011..45483657-chr1:45764134..45764928,2	K562	blood:
2	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
3	chr1:45482345..45484376-chr1:45808953..45810497,2	K562	blood:
4	chr1:45265945..45268277-chr1:45482213..45483730,2	K562	blood:
5	chr1:45475929..45480621-chr1:45481195..45486078,6	MCF-7	breast:
6	chr1:45482594..45485585-chr1:45656946..45658548,2	K562	blood:
7	chr1:45185920..45189252-chr1:45480937..45484378,4	K562	blood:
8	chr1:45272933..45277403-chr1:45480865..45483192,4	K562	blood:
9	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
10	chr1:45480075..45485962-chr1:45670647..45674355,5	MCF-7	breast:
11	chr1:45483055..45484838-chr1:45740397..45743390,2	K562	blood:
12	chr1:45252618..45255680-chr1:45481014..45484053,3	K562	blood:
13	chr1:45265885..45267445-chr1:45480826..45483713,2	K562	blood:
14	chr1:45184531..45190715-chr1:45481425..45486664,6	K562	blood:
15	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162415	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000173846	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv945916	chr1:45482107-45485685	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45478400-45483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:45478600-45500000	Weak transcription	Aorta	Aorta
3	chr1:45478800-45484000	Weak transcription	Right Atrium	heart
4	chr1:45479000-45483400	Weak transcription	Primary B cells from cord blood	blood
5	chr1:45479000-45484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:45479000-45484200	Weak transcription	Esophagus	oesophagus
7	chr1:45479000-45485200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:45479000-45493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:45479200-45484200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:45479400-45484200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:45479600-45484000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:45479600-45484200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:45479600-45484400	Weak transcription	Right Ventricle	heart
14	chr1:45480600-45484200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:45480600-45484200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:45480800-45484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:45480800-45484000	Weak transcription	Pancreas	Pancrea
18	chr1:45480800-45484200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:45480800-45484200	Weak transcription	Brain Substantia Nigra	brain
20	chr1:45480800-45484200	Weak transcription	Fetal Heart	heart
21	chr1:45480800-45486000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:45480800-45500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:45480800-45500600	Weak transcription	HepG2	liver
24	chr1:45480800-45501200	Weak transcription	Fetal Brain Male	brain
25	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:45481000-45484200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:45481000-45484400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:45481000-45484600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:45481200-45483800	Weak transcription	Gastric	stomach
30	chr1:45481200-45483800	Weak transcription	Thymus	Thymus
31	chr1:45481200-45484000	Weak transcription	HSMMtube	muscle
32	chr1:45481200-45484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:45481200-45484200	Weak transcription	Brain Anterior Caudate	brain
34	chr1:45481200-45484200	Weak transcription	Fetal Intestine Small	intestine
35	chr1:45481200-45484200	Weak transcription	GM12878-XiMat	blood
36	chr1:45481200-45484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
38	chr1:45481200-45510200	Weak transcription	Lung	lung
39	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
41	chr1:45481400-45483200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:45481400-45483200	Weak transcription	Fetal Thymus	thymus
43	chr1:45481400-45483800	Weak transcription	HMEC	breast
44	chr1:45481400-45484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:45481400-45484000	Weak transcription	Liver	Liver
46	chr1:45481400-45484000	Weak transcription	Ovary	ovary
47	chr1:45481400-45484000	Weak transcription	NHLF	lung
48	chr1:45481400-45484200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:45481400-45484200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:45481400-45484200	Weak transcription	Stomach Smooth Muscle	stomach

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