Variant report

Variant	rs12082248
Chromosome Location	chr1:151296713-151296714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151252184..151258894-chr1:151295105..151301119,15	MCF-7	breast:
2	chr1:151295651..151298119-chr1:151318938..151320798,2	MCF-7	breast:
3	chr1:151253853..151259248-chr1:151295350..151301325,11	K562	blood:
4	chr1:151294908..151297282-chr1:151371478..151373657,3	MCF-7	breast:
5	chr1:151290821..151293290-chr1:151295135..151297103,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159377	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000232671	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11204788	1.00[AMR][1000 genomes]
rs11204789	1.00[AMR][1000 genomes]
rs11204790	1.00[AMR][1000 genomes]
rs11204797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204799	1.00[AMR][1000 genomes]
rs11204800	1.00[AMR][1000 genomes]
rs11204801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204804	1.00[AMR][1000 genomes]
rs12057875	1.00[AMR][1000 genomes]
rs12058806	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065050	1.00[AMR][1000 genomes]
rs12071605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077026	1.00[AMR][1000 genomes]
rs12077958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080668	1.00[AMR][1000 genomes]
rs12086389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087802	1.00[AMR][1000 genomes]
rs12090291	1.00[AMR][1000 genomes]
rs12092749	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094954	1.00[AMR][1000 genomes]
rs61751621	1.00[AMR][1000 genomes]
rs9887870	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	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
2	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
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription 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	68 gene(s)	inside rSNPs	diseases
6	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151257200-151297600	Strong transcription	Dnd41	blood
2	chr1:151258200-151297200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr1:151258400-151297800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr1:151260000-151298000	Strong transcription	Thymus	Thymus
5	chr1:151261600-151297800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:151262000-151298000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:151262600-151297600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:151265800-151298000	Strong transcription	Fetal Thymus	thymus
9	chr1:151271400-151298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:151273200-151298000	Strong transcription	Primary T cells from cord blood	blood
11	chr1:151273800-151297800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:151280200-151299200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:151280400-151299000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:151283200-151298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:151283200-151299000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:151283400-151297400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:151285000-151297200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:151285200-151297400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:151285600-151298000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:151286400-151297800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:151286800-151298400	Strong transcription	Fetal Intestine Large	intestine
22	chr1:151287000-151298400	Weak transcription	Small Intestine	intestine
23	chr1:151287000-151298600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:151287200-151297800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:151287200-151298000	Weak transcription	Fetal Heart	heart
26	chr1:151287400-151297000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:151287400-151297600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:151287400-151298000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:151287400-151298000	Strong transcription	Fetal Stomach	stomach
30	chr1:151287800-151297800	Strong transcription	Osteobl	bone
31	chr1:151288000-151296800	Strong transcription	Liver	Liver
32	chr1:151288200-151297800	Weak transcription	Fetal Kidney	kidney
33	chr1:151288400-151297800	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:151288400-151298600	Weak transcription	Fetal Brain Male	brain
35	chr1:151288600-151296800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:151288600-151296800	Strong transcription	Adipose Nuclei	Adipose
37	chr1:151288800-151298000	Weak transcription	Hela-S3	cervix
38	chr1:151288800-151298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:151289000-151296800	Weak transcription	Aorta	Aorta
40	chr1:151289000-151297200	Weak transcription	Esophagus	oesophagus
41	chr1:151289000-151298200	Strong transcription	Placenta	Placenta
42	chr1:151289200-151296800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:151289200-151296800	Weak transcription	Colonic Mucosa	Colon
44	chr1:151289200-151297800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:151289200-151298800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:151289600-151297000	Weak transcription	HepG2	liver
47	chr1:151290200-151296800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:151291400-151297000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:151291600-151297000	Strong transcription	NH-A	brain
50	chr1:151291800-151297000	Weak transcription	Pancreas	Pancrea

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