Variant report

Variant	rs17099926
Chromosome Location	chr12:64325106-64325107
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64323494..64326603-chr12:64329507..64332954,4	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17099923	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17099944	0.82[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957857	0.93[YRI][hapmap];0.95[AFR][1000 genomes];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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64298800-64334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:64312400-64331600	Weak transcription	Right Atrium	heart
3	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
4	chr12:64312800-64331200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:64312800-64331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:64313000-64334400	Weak transcription	Psoas Muscle	Psoas
7	chr12:64313200-64330600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:64313200-64331600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:64313200-64331600	Weak transcription	Left Ventricle	heart
10	chr12:64313200-64334400	Weak transcription	Pancreas	Pancrea
11	chr12:64314200-64331200	Weak transcription	Brain Substantia Nigra	brain
12	chr12:64316600-64338400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:64317200-64327800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:64319000-64331200	Weak transcription	Brain Anterior Caudate	brain
15	chr12:64319800-64331600	Weak transcription	Right Ventricle	heart
16	chr12:64322200-64327800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:64322600-64326000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:64322600-64326000	Enhancers	NHEK	skin
19	chr12:64322800-64325800	Enhancers	Osteobl	bone
20	chr12:64323000-64325200	Weak transcription	HSMM	muscle
21	chr12:64323000-64325400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:64323000-64325400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:64323000-64328000	Weak transcription	Lung	lung
24	chr12:64323000-64331200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:64323000-64333800	Weak transcription	Ovary	ovary
26	chr12:64323400-64331600	Weak transcription	A549	lung
27	chr12:64323600-64325200	Weak transcription	NHLF	lung
28	chr12:64323800-64325400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:64324000-64325600	Enhancers	Fetal Brain Female	brain
30	chr12:64324200-64325600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:64324200-64325600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:64324200-64325600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:64324200-64325800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:64324400-64325600	Enhancers	Colon Smooth Muscle	Colon
35	chr12:64324400-64325800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:64324400-64325800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:64324600-64325400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr12:64324600-64325400	Enhancers	NH-A	brain
39	chr12:64324600-64325600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:64324600-64325800	Enhancers	HMEC	breast
41	chr12:64324600-64326000	Enhancers	Brain Germinal Matrix	brain
42	chr12:64324600-64333200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:64324800-64325200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:64324800-64325200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:64324800-64325200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:64324800-64325200	Flanking Active TSS	Fetal Brain Male	brain
47	chr12:64324800-64325200	Weak transcription	Fetal Lung	lung
48	chr12:64324800-64325400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr12:64324800-64325800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:64324800-64325800	Enhancers	HSMMtube	muscle

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