Variant report

Variant	rs12082156
Chromosome Location	chr1:152019758-152019759
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152019751..152020609-chr5:179050208..179051005,2	Hela-S3	cervix:
2	chr1:152018576..152021368-chr17:59488179..59489785,2	MCF-7	breast:
3	chr1:152004043..152013121-chr1:152013584..152022966,19	K562	blood:
4	chr1:151734439..151736812-chr1:152018817..152020911,2	MCF-7	breast:
5	chr1:152017581..152019918-chr1:152019970..152022328,2	K562	blood:
6	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
7	chr1:152019311..152021605-chr1:152136763..152140691,3	MCF-7	breast:
8	chr1:152009240..152009752-chr1:152019706..152020279,2	MCF-7	breast:
9	chr1:151797506..151800180-chr1:152018704..152020909,2	MCF-7	breast:
10	chr1:151483025..151485659-chr1:152019731..152022240,2	MCF-7	breast:
11	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169045	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000237975	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11803731	1.00[ASN][1000 genomes]
rs12123975	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130862	1.00[ASN][1000 genomes]
rs12134184	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34974291	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36010924	1.00[ASN][1000 genomes]
rs4845418	1.00[ASN][1000 genomes]
rs71625168	1.00[ASN][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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152009600-152019800	Weak transcription	Small Intestine	intestine
2	chr1:152010000-152019800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:152010000-152020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:152010200-152020000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:152010200-152020000	Weak transcription	Colonic Mucosa	Colon
6	chr1:152010200-152020400	Weak transcription	Gastric	stomach
7	chr1:152016000-152020000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:152016000-152020000	Enhancers	Placenta	Placenta
9	chr1:152016800-152020000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:152017000-152020000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:152017000-152020000	Weak transcription	Right Atrium	heart
12	chr1:152017400-152020000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:152017600-152019800	Weak transcription	Adipose Nuclei	Adipose
14	chr1:152017800-152019800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:152018000-152019800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:152018000-152019800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:152018000-152019800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:152018000-152019800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:152018000-152019800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:152018000-152020000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:152018000-152020600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:152018000-152021000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:152018200-152019800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:152018200-152020000	Enhancers	Fetal Intestine Large	intestine
25	chr1:152018600-152019800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:152018600-152019800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:152018600-152019800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:152018600-152019800	Enhancers	K562	blood
29	chr1:152018600-152020000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:152018600-152020200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:152018600-152020400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr1:152018600-152020600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr1:152018600-152021600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:152018800-152019800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:152018800-152020000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:152018800-152020000	Enhancers	Stomach Mucosa	stomach
37	chr1:152018800-152020000	Weak transcription	Spleen	Spleen
38	chr1:152019000-152019800	Enhancers	Dnd41	blood
39	chr1:152019000-152020000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:152019000-152020200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:152019200-152019800	Enhancers	Primary B cells from cord blood	blood
42	chr1:152019200-152019800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:152019200-152019800	Enhancers	Fetal Intestine Small	intestine
44	chr1:152019200-152020000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:152019200-152020000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:152019200-152020000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr1:152019200-152020200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:152019200-152020200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:152019200-152020200	Flanking Active TSS	NHEK	skin
50	chr1:152019200-152020400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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