Variant report

Variant	rs12963104
Chromosome Location	chr18:29608569-29608570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12967475	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34967605	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231175	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245142	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934839	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8083910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:29600200-29617200	Weak transcription	Lung	lung
3	chr18:29600400-29616800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:29600400-29617000	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:29600600-29616800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:29600600-29617000	Weak transcription	Left Ventricle	heart
7	chr18:29600600-29620400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
9	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:29602000-29617200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:29602400-29611000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:29602600-29610400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr18:29602600-29610400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr18:29602600-29617000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr18:29602800-29616600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr18:29602800-29617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:29602800-29617200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:29602800-29617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr18:29602800-29617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:29602800-29620600	Weak transcription	Brain Angular Gyrus	brain
23	chr18:29603200-29608800	Weak transcription	Small Intestine	intestine
24	chr18:29603600-29617200	Weak transcription	Fetal Intestine Large	intestine
25	chr18:29603800-29610800	Weak transcription	Liver	Liver
26	chr18:29604200-29610400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:29605000-29610800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr18:29605000-29612200	Weak transcription	Fetal Intestine Small	intestine
30	chr18:29605400-29611200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr18:29605800-29610600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr18:29606600-29610800	Weak transcription	Thymus	Thymus
33	chr18:29606600-29617000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:29606600-29617800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr18:29606800-29609400	Weak transcription	Brain Hippocampus Middle	brain
36	chr18:29606800-29610600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:29606800-29611000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
39	chr18:29607000-29609400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr18:29607000-29610000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:29607000-29610400	Weak transcription	Primary B cells from cord blood	blood
42	chr18:29607000-29610800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr18:29607000-29610800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr18:29607000-29616800	Weak transcription	Adipose Nuclei	Adipose
45	chr18:29607200-29608600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:29607200-29610800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr18:29607200-29617000	Weak transcription	Fetal Thymus	thymus
48	chr18:29607600-29608600	Genic enhancers	Primary T cells from cord blood	blood
49	chr18:29607600-29609200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr18:29607600-29615200	Weak transcription	Primary hematopoietic stem cells	blood

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