Variant report

Variant	rs12305930
Chromosome Location	chr12:64382270-64382271
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	chr12:64368466..64371393-chr12:64380677..64383638,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11175222	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11175223	1.00[AMR][1000 genomes]
rs11175224	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296441	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297450	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302441	1.00[AMR][1000 genomes]
rs12312286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313251	1.00[AMR][1000 genomes]
rs12315032	1.00[AMR][1000 genomes]
rs12316287	1.00[AMR][1000 genomes]
rs12318085	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64362600-64385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
4	chr12:64364200-64385800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:64365000-64383000	Weak transcription	Stomach Mucosa	stomach
6	chr12:64366400-64383600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:64370800-64384400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:64371800-64385800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:64372000-64383200	Weak transcription	Fetal Kidney	kidney
10	chr12:64373800-64383000	Weak transcription	HMEC	breast
11	chr12:64375400-64383200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:64375600-64383200	Weak transcription	Fetal Lung	lung
13	chr12:64375600-64384600	Weak transcription	Hela-S3	cervix
14	chr12:64375800-64385600	Weak transcription	Adipose Nuclei	Adipose
15	chr12:64376200-64385000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:64377000-64383200	Weak transcription	Brain Anterior Caudate	brain
17	chr12:64377000-64383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:64377000-64385400	Weak transcription	Fetal Brain Male	brain
19	chr12:64377200-64383000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:64377200-64383000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:64377200-64383200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:64377200-64383200	Weak transcription	HSMMtube	muscle
23	chr12:64377200-64383400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:64377200-64383400	Weak transcription	NH-A	brain
25	chr12:64377200-64400200	Weak transcription	Brain Germinal Matrix	brain
26	chr12:64377400-64382400	Weak transcription	Fetal Stomach	stomach
27	chr12:64377400-64382600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:64377800-64396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:64378000-64383200	Weak transcription	HepG2	liver
30	chr12:64378000-64395200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:64379200-64382600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:64379200-64383400	Weak transcription	Left Ventricle	heart
33	chr12:64379200-64386000	Weak transcription	Placenta	Placenta
34	chr12:64379800-64383000	Weak transcription	Fetal Heart	heart
35	chr12:64379800-64383400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:64379800-64383400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:64379800-64384400	Weak transcription	Ovary	ovary
38	chr12:64379800-64384600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:64379800-64385600	Weak transcription	Right Atrium	heart
40	chr12:64379800-64388400	Weak transcription	Fetal Brain Female	brain
41	chr12:64379800-64395200	Weak transcription	Fetal Intestine Small	intestine
42	chr12:64380000-64383200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:64380000-64383200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
45	chr12:64380400-64385800	Weak transcription	Pancreas	Pancrea
46	chr12:64380600-64382600	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:64381600-64386000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:64381600-64387000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:64381800-64383600	Enhancers	NHLF	lung
50	chr12:64381800-64384000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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