Variant report

Variant	rs12457986
Chromosome Location	chr18:29601685-29601686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29597754..29600118-chr18:29600354..29602293,2	MCF-7	breast:
2	chr18:29599759..29602632-chr18:29612702..29615585,2	K562	blood:

Variant related genes	Relation type
ENSG00000263917	Chromatin interaction
ENSG00000101695	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12458003	1.00[ASN][1000 genomes]
rs4799322	0.89[ASN][1000 genomes]
rs4799323	0.90[ASN][1000 genomes]
rs4799623	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66467030	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29598000-29603200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:29599800-29601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:29599800-29602400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:29600000-29602000	Weak transcription	Brain Anterior Caudate	brain
6	chr18:29600000-29602400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:29600000-29602400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:29600200-29603000	Weak transcription	Pancreas	Pancrea
9	chr18:29600200-29617200	Weak transcription	Lung	lung
10	chr18:29600400-29602200	Weak transcription	Stomach Mucosa	stomach
11	chr18:29600400-29603000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr18:29600400-29603600	Enhancers	Fetal Intestine Large	intestine
13	chr18:29600400-29603600	Enhancers	Fetal Intestine Small	intestine
14	chr18:29600400-29605800	Weak transcription	Primary B cells from cord blood	blood
15	chr18:29600400-29606200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr18:29600400-29616800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:29600400-29617000	Weak transcription	Fetal Muscle Leg	muscle
18	chr18:29600600-29602000	Enhancers	Brain Hippocampus Middle	brain
19	chr18:29600600-29602200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr18:29600600-29602200	Weak transcription	Brain Angular Gyrus	brain
21	chr18:29600600-29602200	Weak transcription	HepG2	liver
22	chr18:29600600-29602400	Enhancers	Adipose Nuclei	Adipose
23	chr18:29600600-29602800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:29600600-29603400	Weak transcription	Right Atrium	heart
25	chr18:29600600-29603800	Enhancers	Liver	Liver
26	chr18:29600600-29605600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr18:29600600-29605600	Weak transcription	GM12878-XiMat	blood
28	chr18:29600600-29616800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr18:29600600-29617000	Weak transcription	Left Ventricle	heart
30	chr18:29600600-29620400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
32	chr18:29600800-29602000	Enhancers	Primary hematopoietic stem cells	blood
33	chr18:29600800-29602000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:29600800-29603200	Enhancers	Small Intestine	intestine
35	chr18:29600800-29605400	Weak transcription	Thymus	Thymus
36	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:29601000-29602000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr18:29601000-29602000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr18:29601000-29602000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr18:29601000-29602200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr18:29601000-29603000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:29601000-29603600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr18:29601000-29603800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr18:29601000-29603800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr18:29601000-29605200	Weak transcription	Fetal Thymus	thymus
46	chr18:29601000-29606800	Weak transcription	Psoas Muscle	Psoas
47	chr18:29601400-29601800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr18:29601400-29601800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr18:29601400-29601800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr18:29601400-29601800	Weak transcription	Brain Cingulate Gyrus	brain

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