Variant report

Variant	rs55716130
Chromosome Location	chr1:151130405-151130406
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150994233..150997009-chr1:151128495..151131109,2	MCF-7	breast:
2	chr1:151129660..151131300-chr1:151154193..151158073,3	K562	blood:
3	chr1:151116489..151120631-chr1:151129808..151132506,3	K562	blood:
4	chr1:151042151..151045476-chr1:151127754..151130933,3	MCF-7	breast:
5	chr1:150994028..150996978-chr1:151129851..151131997,2	K562	blood:
6	chr1:150997070..150998682-chr1:151128410..151130437,2	K562	blood:
7	chr1:151128133..151130862-chr1:151227086..151228869,2	MCF-7	breast:
8	chr1:151114895..151122057-chr1:151125026..151130825,9	MCF-7	breast:
9	chr1:151117604..151120749-chr1:151128246..151131666,4	MCF-7	breast:
10	chr1:151128026..151130888-chr1:151138043..151140258,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143458	Chromatin interaction
ENSG00000200759	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143363	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs41299635	1.00[AMR][1000 genomes]
rs41310891	1.00[AMR][1000 genomes]
rs55935377	1.00[AMR][1000 genomes]
rs57330524	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58618837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58763463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59737164	1.00[AMR][1000 genomes]
rs60636837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60865304	1.00[AMR][1000 genomes]
rs74125051	1.00[AMR][1000 genomes]
rs74125053	1.00[AMR][1000 genomes]
rs74125059	1.00[AMR][1000 genomes]
rs74125062	1.00[AMR][1000 genomes]
rs74125063	1.00[AMR][1000 genomes]
rs74125065	1.00[AMR][1000 genomes]
rs74125077	1.00[AMR][1000 genomes]
rs74125079	1.00[AMR][1000 genomes]
rs74125080	1.00[AMR][1000 genomes]
rs74125087	1.00[AMR][1000 genomes]
rs74125088	1.00[AMR][1000 genomes]
rs74125093	1.00[AMR][1000 genomes]
rs74127505	1.00[AMR][1000 genomes]
rs74127506	1.00[AMR][1000 genomes]
rs74127513	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127514	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127515	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127529	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127530	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127531	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127536	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127537	0.82[AFR][1000 genomes]
rs74127539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151120000-151130800	Weak transcription	Pancreas	Pancrea
2	chr1:151120000-151131200	Weak transcription	Ovary	ovary
3	chr1:151120000-151131400	Weak transcription	NH-A	brain
4	chr1:151120000-151131400	Weak transcription	NHLF	lung
5	chr1:151120200-151130800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:151120200-151131000	Weak transcription	Osteobl	bone
7	chr1:151120200-151131200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:151120200-151132000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:151120200-151132000	Weak transcription	NHDF-Ad	bronchial
10	chr1:151120400-151131600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:151120400-151133200	Weak transcription	Psoas Muscle	Psoas
12	chr1:151120600-151130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:151120600-151132000	Weak transcription	HSMMtube	muscle
14	chr1:151125000-151132800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:151127200-151134600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:151127400-151134800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:151127600-151131200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:151127600-151132800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:151128200-151130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:151128400-151131000	Weak transcription	Right Ventricle	heart
21	chr1:151128400-151136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:151128600-151130600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:151128600-151130600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:151128600-151131000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:151128600-151131200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr1:151128600-151131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:151128800-151130600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr1:151128800-151130600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr1:151128800-151130600	Flanking Active TSS	GM12878-XiMat	blood
30	chr1:151128800-151131000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:151128800-151131000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr1:151128800-151131000	Flanking Active TSS	Fetal Thymus	thymus
33	chr1:151128800-151131200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:151128800-151134400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:151128800-151136800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:151129000-151130600	Active TSS	Adipose Nuclei	Adipose
37	chr1:151129000-151130800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:151129000-151130800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:151129000-151131000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:151129000-151131000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:151129000-151131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:151129000-151131800	Weak transcription	Fetal Heart	heart
43	chr1:151129000-151133200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:151129000-151133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:151129000-151133400	Weak transcription	HMEC	breast
46	chr1:151129000-151134400	Strong transcription	Brain Germinal Matrix	brain
47	chr1:151129200-151130800	Weak transcription	A549	lung
48	chr1:151129200-151131000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:151129200-151131000	Weak transcription	NHEK	skin
50	chr1:151129200-151131200	Weak transcription	HepG2	liver

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