Variant report

Variant	rs61942054
Chromosome Location	chr12:49078745-49078746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49078444..49081393-chr12:49097132..49098901,2	MCF-7	breast:
2	chr12:49072639..49079132-chr12:49108469..49112073,12	K562	blood:
3	chr12:49073439..49079132-chr12:49108039..49112179,15	K562	blood:
4	chr12:49078551..49080628-chr12:49085549..49087501,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11829853	1.00[AMR][1000 genomes]
rs11833747	1.00[AMR][1000 genomes]
rs11835040	1.00[AMR][1000 genomes]
rs11837277	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11837959	1.00[AMR][1000 genomes]
rs2898086	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2898088	1.00[AMR][1000 genomes]
rs2898089	1.00[AMR][1000 genomes]
rs34046666	0.96[EUR][1000 genomes]
rs34080613	1.00[AMR][1000 genomes]
rs35678179	1.00[AMR][1000 genomes]
rs3902957	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56182935	0.82[EUR][1000 genomes]
rs56934678	1.00[AMR][1000 genomes]
rs58539734	1.00[AMR][1000 genomes]
rs59815296	1.00[AMR][1000 genomes]
rs61496293	0.88[EUR][1000 genomes]
rs61751603	1.00[AMR][1000 genomes]
rs7299151	0.88[EUR][1000 genomes]
rs74088105	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74088110	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74089369	1.00[AMR][1000 genomes];0.88[EUR][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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv519053	chr12:49065727-49079470	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49076000-49087000	Weak transcription	Stomach Mucosa	stomach
2	chr12:49076400-49083200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:49076600-49080200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:49076600-49081200	Weak transcription	HSMM	muscle
5	chr12:49076600-49081400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:49076600-49081600	Weak transcription	Osteobl	bone
7	chr12:49076600-49081800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:49076600-49081800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:49076600-49082200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:49076600-49082200	Weak transcription	Fetal Brain Male	brain
11	chr12:49076600-49082200	Weak transcription	Left Ventricle	heart
12	chr12:49076600-49082200	Weak transcription	NHDF-Ad	bronchial
13	chr12:49076600-49082400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:49076600-49082400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:49076600-49082400	Weak transcription	Fetal Lung	lung
16	chr12:49076600-49082600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:49076600-49082600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:49076600-49082800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:49076600-49083600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:49076600-49083800	Weak transcription	Lung	lung
21	chr12:49076600-49084200	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:49076600-49084200	Weak transcription	Psoas Muscle	Psoas
23	chr12:49076600-49084200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:49076600-49084200	Weak transcription	Small Intestine	intestine
25	chr12:49076600-49084200	Weak transcription	NHLF	lung
26	chr12:49076600-49084800	Weak transcription	Colonic Mucosa	Colon
27	chr12:49076600-49085600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:49076600-49086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:49076600-49086400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:49076600-49086400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:49076600-49086400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:49076600-49086600	Weak transcription	Fetal Kidney	kidney
33	chr12:49076600-49086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:49076600-49086800	Weak transcription	Aorta	Aorta
35	chr12:49076600-49086800	Weak transcription	Esophagus	oesophagus
36	chr12:49076600-49086800	Weak transcription	Gastric	stomach
37	chr12:49076600-49086800	Weak transcription	Ovary	ovary
38	chr12:49076600-49086800	Weak transcription	Pancreas	Pancrea
39	chr12:49076600-49086800	Weak transcription	Spleen	Spleen
40	chr12:49076600-49096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:49076800-49080800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:49076800-49081000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:49076800-49081200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:49076800-49081200	Weak transcription	NH-A	brain
46	chr12:49076800-49081400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:49076800-49081400	Weak transcription	Brain Anterior Caudate	brain
48	chr12:49076800-49081400	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:49076800-49081400	Weak transcription	HMEC	breast
50	chr12:49076800-49081600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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