Variant report

Variant	rs17099896
Chromosome Location	chr12:64289354-64289355
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	chr12:64283993..64286506-chr12:64287434..64289629,2	MCF-7	breast:
2	chr12:64241662..64243647-chr12:64288984..64291005,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17099886	0.88[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs17099889	0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17099893	0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4346062	0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs55884087	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61933086	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61933093	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61933094	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61937061	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73113977	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73126651	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73315387	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64264000-64294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:64274800-64292800	Weak transcription	Right Atrium	heart
3	chr12:64277000-64291600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:64277200-64299400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:64277800-64289400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:64278600-64289800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:64279600-64291200	Weak transcription	Fetal Stomach	stomach
8	chr12:64283200-64298200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:64283200-64298600	Weak transcription	NHEK	skin
10	chr12:64283200-64299000	Weak transcription	HMEC	breast
11	chr12:64283200-64303000	Weak transcription	NHLF	lung
12	chr12:64283200-64312200	Weak transcription	Left Ventricle	heart
13	chr12:64283400-64294400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:64283600-64291800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:64284000-64296200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:64284200-64292800	Weak transcription	Adipose Nuclei	Adipose
17	chr12:64284200-64296400	Weak transcription	HSMM	muscle
18	chr12:64284200-64309000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:64285000-64289600	Weak transcription	Pancreas	Pancrea
20	chr12:64285200-64289400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:64285200-64291600	Weak transcription	Stomach Mucosa	stomach
22	chr12:64285200-64294400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:64285400-64306000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:64286400-64291400	Weak transcription	Fetal Intestine Small	intestine
25	chr12:64287000-64291600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:64287000-64291600	Weak transcription	Fetal Brain Male	brain
27	chr12:64287200-64289400	Weak transcription	Fetal Heart	heart
28	chr12:64287200-64289800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:64287200-64291600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:64287200-64307800	Weak transcription	NHDF-Ad	bronchial
31	chr12:64287400-64290600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:64287400-64291400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:64287400-64292000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:64287400-64294400	Weak transcription	Brain Substantia Nigra	brain
35	chr12:64287600-64289400	Weak transcription	A549	lung
36	chr12:64287600-64290200	Weak transcription	Fetal Brain Female	brain
37	chr12:64287600-64290400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:64287600-64290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:64287600-64291000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:64287600-64291400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:64287600-64291600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:64287600-64291600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:64287600-64291800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:64287600-64291800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:64287600-64291800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:64287600-64294800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:64287600-64295000	Weak transcription	Brain Germinal Matrix	brain
48	chr12:64287600-64296200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:64288000-64291600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:64288200-64290800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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