Variant report

Variant	rs74127536
Chromosome Location	chr1:151117652-151117653
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	chr1:151103786..151106331-chr1:151117499..151120768,3	MCF-7	breast:
2	chr1:151096194..151098701-chr1:151116242..151118774,2	MCF-7	breast:
3	chr1:151102270..151104122-chr1:151117546..151119575,3	K562	blood:
4	chr1:151114895..151122057-chr1:151125026..151130825,9	MCF-7	breast:
5	chr1:151008899..151010447-chr1:151116259..151119248,2	MCF-7	breast:
6	chr1:151115125..151117967-chr1:151253558..151255357,2	K562	blood:
7	chr1:151117604..151120749-chr1:151128246..151131666,4	MCF-7	breast:
8	chr1:151117625..151120818-chr1:151135402..151140051,4	MCF-7	breast:
9	chr1:151104617..151106812-chr1:151117447..151119044,2	MCF-7	breast:
10	chr1:151109028..151112291-chr1:151113939..151118222,5	K562	blood:
11	chr1:151112451..151114594-chr1:151115769..151118069,3	K562	blood:
12	chr1:151117616..151120860-chr1:151252294..151255501,4	K562	blood:
13	chr1:151040013..151045011-chr1:151111761..151118476,6	MCF-7	breast:
14	chr1:151112451..151114462-chr1:151116329..151118583,3	K562	blood:
15	chr1:151116657..151121305-chr1:151127749..151129795,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163141	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000261168	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000232671	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs41299635	1.00[AMR][1000 genomes]
rs41310891	1.00[AMR][1000 genomes]
rs55716130	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55935377	1.00[AMR][1000 genomes]
rs57330524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58618837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58763463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59737164	1.00[AMR][1000 genomes]
rs60636837	0.96[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127505	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127506	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127513	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127514	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127528	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127529	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127530	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151104400-151118000	Weak transcription	Aorta	Aorta
2	chr1:151104600-151118200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:151105600-151118000	Weak transcription	Gastric	stomach
4	chr1:151108600-151117800	Weak transcription	Esophagus	oesophagus
5	chr1:151113000-151118000	Weak transcription	Liver	Liver
6	chr1:151114800-151117800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:151115000-151118200	Enhancers	K562	blood
8	chr1:151115000-151118600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:151115600-151118000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:151115600-151118800	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr1:151116400-151117800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:151116400-151118800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:151116600-151118800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:151116800-151117800	Flanking Active TSS	Fetal Heart	heart
15	chr1:151116800-151117800	Flanking Active TSS	Right Atrium	heart
16	chr1:151116800-151118000	Enhancers	Lung	lung
17	chr1:151116800-151118400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:151116800-151118600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
19	chr1:151117000-151118800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr1:151117000-151119600	Active TSS	Fetal Kidney	kidney
21	chr1:151117200-151117800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr1:151117200-151118000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr1:151117200-151118000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr1:151117200-151118000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:151117200-151118000	Active TSS	Brain Hippocampus Middle	brain
26	chr1:151117200-151118000	Enhancers	HepG2	liver
27	chr1:151117200-151118200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:151117200-151118200	Flanking Active TSS	Right Ventricle	heart
29	chr1:151117200-151118200	Enhancers	Spleen	Spleen
30	chr1:151117200-151118200	Enhancers	Dnd41	blood
31	chr1:151117200-151118400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr1:151117200-151118400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr1:151117200-151118600	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr1:151117200-151118800	Flanking Active TSS	HUVEC	blood vessel
35	chr1:151117200-151119000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr1:151117200-151119600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:151117200-151119600	Active TSS	Brain Angular Gyrus	brain
38	chr1:151117400-151117800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr1:151117400-151117800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr1:151117400-151117800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:151117400-151117800	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr1:151117400-151118000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
43	chr1:151117400-151118000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:151117400-151118000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr1:151117400-151118000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr1:151117400-151118000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:151117400-151118000	Flanking Active TSS	Fetal Lung	lung
48	chr1:151117400-151118000	Flanking Active TSS	Ovary	ovary
49	chr1:151117400-151118200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:151117400-151118200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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