Variant report

Variant	rs16833052
Chromosome Location	chr1:151161933-151161934
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151161155..151162888-chr1:151254618..151258389,3	MCF-7	breast:
2	chr1:151161317..151163856-chr1:151235890..151237991,2	MCF-7	breast:
3	chr1:151158002..151164153-chr1:151224298..151228623,7	MCF-7	breast:
4	chr1:151156826..151164982-chr1:151165389..151172985,25	MCF-7	breast:
5	chr1:151041683..151045028-chr1:151160226..151163233,4	MCF-7	breast:
6	chr1:151159342..151162316-chr1:151225405..151226979,2	MCF-7	breast:
7	chr1:151137906..151140464-chr1:151160968..151164864,6	K562	blood:
8	chr1:151161246..151164199-chr1:151225509..151227562,3	K562	blood:
9	chr1:151128359..151130289-chr1:151160585..151164269,3	K562	blood:
10	chr1:151042897..151044564-chr1:151161784..151163721,2	MCF-7	breast:
11	chr1:151159807..151164370-chr1:151251735..151254419,4	MCF-7	breast:
12	chr1:151161136..151164205-chr1:151252246..151255061,3	K562	blood:
13	chr1:151144772..151148459-chr1:151159275..151164000,5	MCF-7	breast:
14	chr1:151158000..151162129-chr1:151223268..151225509,3	K562	blood:
15	chr1:151137992..151140464-chr1:151160968..151164864,4	K562	blood:
16	chr1:151136893..151140335-chr1:151160848..151164031,6	MCF-7	breast:
17	chr1:151160213..151162825-chr1:151370506..151372060,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197622	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000163157	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11800088	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11800715	1.00[AMR][1000 genomes]
rs11804061	1.00[AMR][1000 genomes]
rs11804474	1.00[AMR][1000 genomes]
rs11806302	1.00[AMR][1000 genomes]
rs11809569	1.00[AMR][1000 genomes]
rs11809979	0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs11811310	0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs16832965	1.00[AMR][1000 genomes]
rs16832968	0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs16832988	0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs16833008	1.00[AMR][1000 genomes]
rs16833054	0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs16833100	0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs16833109	1.00[AMR][1000 genomes]
rs34570433	1.00[AMR][1000 genomes]
rs41445244	1.00[AMR][1000 genomes]
rs6657146	0.83[MKK][hapmap];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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151154200-151162000	Weak transcription	Aorta	Aorta
2	chr1:151158400-151162000	Weak transcription	Esophagus	oesophagus
3	chr1:151158400-151162000	Weak transcription	Gastric	stomach
4	chr1:151158600-151162000	Weak transcription	Lung	lung
5	chr1:151160400-151162400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr1:151160400-151163000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:151160800-151162200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:151160800-151162200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr1:151161000-151162000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr1:151161000-151162000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:151161000-151162000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:151161000-151162000	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr1:151161000-151162000	Enhancers	Small Intestine	intestine
14	chr1:151161000-151162000	Enhancers	Spleen	Spleen
15	chr1:151161000-151162000	Flanking Active TSS	Dnd41	blood
16	chr1:151161000-151162200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:151161000-151162200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:151161000-151162200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:151161000-151162200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:151161000-151162200	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr1:151161000-151162200	Flanking Active TSS	Hela-S3	cervix
22	chr1:151161000-151162400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:151161000-151162800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:151161000-151163000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:151161000-151163200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr1:151161000-151163200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:151161000-151163400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:151161000-151163400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:151161200-151162000	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr1:151161200-151162000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr1:151161200-151162000	Flanking Active TSS	Thymus	Thymus
32	chr1:151161200-151162000	Flanking Active TSS	A549	lung
33	chr1:151161200-151162000	Flanking Active TSS	NHEK	skin
34	chr1:151161200-151162000	Flanking Active TSS	Osteobl	bone
35	chr1:151161200-151162200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:151161200-151162200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:151161200-151162200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr1:151161200-151162200	Flanking Active TSS	Fetal Lung	lung
39	chr1:151161200-151163200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:151161200-151163200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:151161200-151163200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:151161200-151163200	Active TSS	Fetal Intestine Large	intestine
43	chr1:151161200-151163200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:151161200-151163400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:151161400-151162000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr1:151161400-151162000	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr1:151161400-151162000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:151161400-151162000	Flanking Active TSS	HUVEC	blood vessel
49	chr1:151161400-151162000	Flanking Active TSS	NH-A	brain
50	chr1:151161400-151162200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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