Variant report

Variant	rs1655609
Chromosome Location	chr12:83393129-83393130
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83079421..83081926-chr12:83392730..83394368,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179104	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1796173	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83358400-83397600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:83358400-83409200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:83358600-83394200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:83358600-83399600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:83358600-83409400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:83368800-83393800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:83368800-83399200	Weak transcription	Esophagus	oesophagus
8	chr12:83375600-83405600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:83377600-83400000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:83377600-83409400	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:83377800-83410200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:83378400-83394200	Weak transcription	Lung	lung
13	chr12:83378400-83409600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:83378800-83409000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:83379200-83397000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:83379800-83393200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:83380000-83394200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:83380000-83403200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:83380000-83409200	Weak transcription	Gastric	stomach
20	chr12:83380200-83397200	Weak transcription	Brain Substantia Nigra	brain
21	chr12:83381800-83399400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:83382400-83399000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:83382600-83399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:83384000-83397000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:83386000-83404200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:83386200-83403600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:83386600-83394200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:83388200-83394200	Weak transcription	Fetal Stomach	stomach
29	chr12:83388400-83400800	Weak transcription	Fetal Kidney	kidney
30	chr12:83389800-83394400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:83390200-83409200	Weak transcription	Pancreas	Pancrea
32	chr12:83390400-83399200	Weak transcription	Fetal Intestine Large	intestine
33	chr12:83391000-83399400	Weak transcription	Fetal Intestine Small	intestine
34	chr12:83391800-83396200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:83392000-83396200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:83392200-83409000	Weak transcription	Stomach Mucosa	stomach
37	chr12:83392600-83397200	Weak transcription	Fetal Heart	heart
38	chr12:83392800-83394800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:83393000-83393600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:83393000-83394800	Strong transcription	Fetal Lung	lung
41	chr12:83393000-83395200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:83393000-83397000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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