Variant report

Variant	rs12982872
Chromosome Location	chr19:41746535-41746536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41737149..41740146-chr19:41745201..41747116,2	MCF-7	breast:
2	chr19:41740738..41742359-chr19:41744451..41746880,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11879429	0.86[ASN][1000 genomes]
rs11879435	0.86[ASN][1000 genomes]
rs11880729	0.86[ASN][1000 genomes]
rs12972779	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12972949	0.84[ASN][1000 genomes]
rs12977563	0.86[ASN][1000 genomes]
rs12980267	0.84[ASN][1000 genomes]
rs12983027	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12983339	0.83[ASN][1000 genomes]
rs1946612	0.82[ASN][1000 genomes]
rs1946613	0.84[ASN][1000 genomes]
rs2304231	0.86[ASN][1000 genomes]
rs2304232	0.86[ASN][1000 genomes]
rs2304235	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34772093	0.90[ASN][1000 genomes]
rs35546772	0.91[ASN][1000 genomes]
rs35812313	0.84[ASN][1000 genomes]
rs3760659	0.82[ASN][1000 genomes]
rs3760660	0.84[ASN][1000 genomes]
rs3786555	0.92[EUR][1000 genomes]
rs3786556	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4591267	0.86[ASN][1000 genomes]
rs66841352	0.89[ASN][1000 genomes]
rs67744888	0.84[ASN][1000 genomes]
rs7250883	0.84[ASN][1000 genomes]
rs7256873	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103839	0.84[ASN][1000 genomes]
rs8105901	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv995062	chr19:41745232-41748598	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv819422	chr19:41745404-41748030	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	2 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	chr19:41730200-41762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41732600-41768800	Weak transcription	Small Intestine	intestine
3	chr19:41733200-41749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:41733200-41767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:41733200-41767200	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr19:41734000-41748600	Weak transcription	Hela-S3	cervix
7	chr19:41736000-41752400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:41736000-41767200	Strong transcription	Osteobl	bone
9	chr19:41736000-41767400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:41736200-41757000	Strong transcription	NH-A	brain
11	chr19:41736400-41767800	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr19:41736600-41757200	Strong transcription	NHLF	lung
13	chr19:41736600-41766200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:41736600-41766600	Strong transcription	Fetal Stomach	stomach
15	chr19:41736600-41767000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:41736600-41767200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:41736600-41767400	Strong transcription	HSMM	muscle
18	chr19:41736600-41767800	Weak transcription	Brain Angular Gyrus	brain
19	chr19:41736800-41754400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:41736800-41758200	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:41736800-41762400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:41737200-41766000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr19:41737400-41766600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:41738000-41761000	Strong transcription	Colon Smooth Muscle	Colon
25	chr19:41738600-41748600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:41738800-41767400	Weak transcription	Fetal Brain Male	brain
27	chr19:41739000-41748600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:41739400-41752800	Strong transcription	NHDF-Ad	bronchial
29	chr19:41739400-41754200	Weak transcription	Left Ventricle	heart
30	chr19:41739400-41758200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:41739400-41767400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:41739600-41749600	Strong transcription	Aorta	Aorta
33	chr19:41739600-41752000	Strong transcription	Adipose Nuclei	Adipose
34	chr19:41739800-41766200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:41740200-41754400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:41741000-41747800	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:41742600-41749600	Strong transcription	Rectal Smooth Muscle	rectum
38	chr19:41742600-41752200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:41742600-41767600	Strong transcription	A549	lung
40	chr19:41742800-41749800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr19:41742800-41757000	Strong transcription	HSMMtube	muscle
42	chr19:41742800-41757200	Strong transcription	Ovary	ovary
43	chr19:41743000-41757000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:41743400-41752600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:41743400-41757200	Strong transcription	HUVEC	blood vessel
46	chr19:41743600-41746800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:41743600-41749800	Strong transcription	HMEC	breast
48	chr19:41743600-41752000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:41743600-41752600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:41743600-41758400	Strong transcription	Fetal Muscle Trunk	muscle

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