Variant report

Variant	rs12074157
Chromosome Location	chr1:113202386-113202387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113202278..113203870-chr1:113207719..113210666,2	MCF-7	breast:
2	chr1:113201056..113203899-chr1:113214909..113217826,3	MCF-7	breast:
3	chr1:113202139..113204725-chr1:113211463..113213311,2	MCF-7	breast:
4	chr1:113201703..113204472-chr1:113215980..113217663,2	MCF-7	breast:
5	chr1:113160231..113165111-chr1:113199772..113204361,6	K562	blood:
6	chr1:113202189..113204347-chr1:113247857..113249740,2	K562	blood:
7	chr1:113161290..113166205-chr1:113202246..113206861,5	K562	blood:

Variant related genes	Relation type
ENSG00000155363	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10399919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102490	0.81[AFR][1000 genomes]
rs11102500	0.81[AFR][1000 genomes]
rs11102519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102521	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060267	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069740	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073750	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077330	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080006	0.81[AFR][1000 genomes]
rs12087862	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091635	0.81[AFR][1000 genomes]
rs12095563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030475	0.81[AFR][1000 genomes]
rs17030592	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4424506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57573777	1.00[AMR][1000 genomes]
rs58634778	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053530	1.00[AMR][1000 genomes]
rs61203550	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72982599	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984503	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984509	1.00[AMR][1000 genomes]
rs72984515	1.00[AMR][1000 genomes]
rs72986505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72986535	1.00[AMR][1000 genomes]
rs72993072	0.81[AFR][1000 genomes]
rs9919308	0.93[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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
5	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr1:113164200-113204200	Weak transcription	Fetal Brain Male	brain
2	chr1:113168800-113215800	Weak transcription	Fetal Heart	heart
3	chr1:113179000-113215600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:113180000-113216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:113180200-113203000	Weak transcription	Aorta	Aorta
6	chr1:113184200-113215600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:113184600-113214800	Strong transcription	Hela-S3	cervix
8	chr1:113185000-113214800	Strong transcription	Dnd41	blood
9	chr1:113185400-113216200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:113186000-113210800	Strong transcription	GM12878-XiMat	blood
11	chr1:113186000-113214800	Strong transcription	Fetal Thymus	thymus
12	chr1:113186000-113215000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:113186200-113215400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:113187000-113213200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:113187000-113215200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:113187200-113215200	Strong transcription	HSMM	muscle
17	chr1:113187400-113215000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:113187800-113202800	Weak transcription	Small Intestine	intestine
19	chr1:113187800-113204000	Weak transcription	Right Ventricle	heart
20	chr1:113187800-113216000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:113188400-113215000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:113188800-113213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:113189000-113213800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:113189200-113203600	Weak transcription	Gastric	stomach
25	chr1:113189200-113203800	Weak transcription	Pancreas	Pancrea
26	chr1:113189200-113211000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:113189200-113214600	Strong transcription	NHEK	skin
28	chr1:113189200-113214800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:113189200-113215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:113189400-113214800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:113189800-113213800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:113189800-113215200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:113189800-113215400	Strong transcription	Placenta	Placenta
34	chr1:113189800-113216200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:113190000-113210600	Strong transcription	Primary B cells from cord blood	blood
36	chr1:113190000-113214600	Strong transcription	Liver	Liver
37	chr1:113190000-113215200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:113190000-113215200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:113190000-113215200	Strong transcription	NH-A	brain
40	chr1:113190000-113215400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:113190000-113215400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:113190200-113210600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:113190200-113214400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:113190200-113214600	Strong transcription	Adipose Nuclei	Adipose
45	chr1:113190600-113211000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:113190600-113213000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:113190600-113214200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:113190800-113209000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:113190800-113215000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr1:113191000-113213600	Strong transcription	Primary T cells from cord blood	blood

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