Variant report

Variant	rs12486678
Chromosome Location	chr3:140954810-140954811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140948502..140951500-chr3:140954182..140956854,2	MCF-7	breast:
2	chr3:140952467..140954037-chr3:140954214..140955849,2	MCF-7	breast:
3	chr3:140954329..140957093-chr3:140957221..140960303,3	K562	blood:
4	chr3:140946887..140950533-chr3:140951414..140955380,5	MCF-7	breast:
5	chr3:140954123..140955100-chr3:140974846..140975403,3	K562	blood:

Variant related genes	Relation type
ENSG00000155893	Chromatin interaction

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

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

rs_ID	r²[population]
rs10935421	0.94[AMR][1000 genomes]
rs12053839	0.94[AMR][1000 genomes]
rs12495839	1.00[AMR][1000 genomes]
rs12633778	0.94[AMR][1000 genomes]
rs16851167	0.94[AMR][1000 genomes]
rs1982642	1.00[AMR][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	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140951200-140955400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr3:140951600-140956200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:140951600-140956400	Weak transcription	Psoas Muscle	Psoas
4	chr3:140951600-140956600	Weak transcription	Gastric	stomach
5	chr3:140951600-140957000	Weak transcription	Aorta	Aorta
6	chr3:140951600-140959000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:140951600-140979000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:140951800-140955200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:140951800-140955200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:140951800-140955200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:140951800-140955400	Weak transcription	Ovary	ovary
12	chr3:140951800-140955400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:140951800-140955800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:140951800-140956400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:140951800-140956400	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:140951800-140956600	Weak transcription	Fetal Lung	lung
17	chr3:140951800-140956800	Weak transcription	Right Atrium	heart
18	chr3:140951800-140956800	Weak transcription	Stomach Mucosa	stomach
19	chr3:140951800-140958800	Weak transcription	Osteobl	bone
20	chr3:140951800-140959000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:140951800-140960200	Weak transcription	Esophagus	oesophagus
22	chr3:140951800-140960400	Weak transcription	Brain Substantia Nigra	brain
23	chr3:140951800-140962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:140951800-140962200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:140952000-140955200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr3:140952000-140955200	Weak transcription	Small Intestine	intestine
27	chr3:140952000-140956200	Weak transcription	Brain Angular Gyrus	brain
28	chr3:140952000-140956200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:140952000-140956600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:140952000-140956600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:140952000-140956600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:140952000-140956800	Weak transcription	HSMM	muscle
33	chr3:140952000-140957000	Weak transcription	Brain Anterior Caudate	brain
34	chr3:140952000-140958400	Weak transcription	Fetal Kidney	kidney
35	chr3:140952000-140959000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:140952000-140959000	Weak transcription	Placenta	Placenta
37	chr3:140952000-140959600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr3:140952000-140962000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr3:140952200-140958000	Weak transcription	Right Ventricle	heart
40	chr3:140952400-140959600	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:140952600-140956400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:140952600-140957800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:140952800-140955000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:140952800-140956200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:140953000-140956800	Enhancers	Fetal Heart	heart
46	chr3:140953000-140958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:140953200-140955000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
48	chr3:140953200-140955200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:140953200-140955200	Strong transcription	Fetal Stomach	stomach
50	chr3:140953200-140955600	Enhancers	Liver	Liver

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