Variant report

Variant	rs12306643
Chromosome Location	chr12:83088648-83088649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83088398..83090839-chr12:83090924..83092850,2	MCF-7	breast:
2	chr12:83087444..83089633-chr12:83144729..83146613,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11115340	1.00[AMR][1000 genomes]
rs11115350	1.00[AMR][1000 genomes]
rs11115351	1.00[AMR][1000 genomes]
rs11115354	1.00[AMR][1000 genomes]
rs11115361	1.00[AMR][1000 genomes]
rs11115379	1.00[AMR][1000 genomes]
rs11115382	1.00[AMR][1000 genomes]
rs12297818	1.00[AMR][1000 genomes]
rs12297858	1.00[AMR][1000 genomes]
rs12310342	1.00[AMR][1000 genomes]
rs12316714	1.00[AMR][1000 genomes]
rs12318314	1.00[AMR][1000 genomes]
rs12318452	1.00[AMR][1000 genomes]
rs12318675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319248	1.00[AMR][1000 genomes]
rs73360282	1.00[AMR][1000 genomes]
rs9804899	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83082200-83089200	Weak transcription	Esophagus	oesophagus
2	chr12:83082200-83102200	Weak transcription	Lung	lung
3	chr12:83082400-83089000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:83082600-83088800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:83082600-83094600	Weak transcription	Left Ventricle	heart
6	chr12:83082800-83089400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:83082800-83095200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:83082800-83099400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:83082800-83102000	Weak transcription	NHDF-Ad	bronchial
10	chr12:83082800-83102200	Weak transcription	Pancreas	Pancrea
11	chr12:83083000-83089200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:83083000-83089400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:83083000-83089400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:83083000-83092400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:83083600-83101800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:83084000-83092000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:83084000-83101400	Weak transcription	Fetal Kidney	kidney
18	chr12:83084600-83093400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:83084600-83101200	Weak transcription	Fetal Stomach	stomach
20	chr12:83084800-83088800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:83084800-83089600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:83084800-83090200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:83084800-83092800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:83084800-83101400	Weak transcription	GM12878-XiMat	blood
25	chr12:83085200-83091600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:83086000-83088800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:83086000-83102200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:83086200-83092800	Weak transcription	Fetal Brain Female	brain
29	chr12:83086200-83093200	Weak transcription	Fetal Brain Male	brain
30	chr12:83086400-83090600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:83086400-83093200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:83086600-83088800	Weak transcription	Brain Substantia Nigra	brain
33	chr12:83086600-83122200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:83086800-83089200	Weak transcription	Brain Anterior Caudate	brain
35	chr12:83086800-83089800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:83086800-83092800	Weak transcription	Brain Germinal Matrix	brain
37	chr12:83086800-83100800	Weak transcription	Fetal Heart	heart
38	chr12:83087000-83089600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:83087000-83091400	Weak transcription	Brain Angular Gyrus	brain
40	chr12:83087200-83089000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:83087200-83092600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:83087200-83105600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:83087400-83098800	Weak transcription	Fetal Lung	lung
44	chr12:83087400-83101200	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:83087400-83106400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:83087800-83088800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:83088200-83089400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:83088200-83089600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:83088200-83089600	Enhancers	HMEC	breast
50	chr12:83088200-83090000	Enhancers	Colon Smooth Muscle	Colon

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