Variant report

Variant	rs17093732
Chromosome Location	chr12:44191475-44191476
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	chr12:44189560..44194683-chr12:44198050..44201661,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151239	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11832281	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298711	0.87[ASN][1000 genomes]
rs17093630	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17093632	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17093734	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17093747	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17093754	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1802561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870765	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2166063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2199390	1.00[CHB][hapmap]
rs3805199	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251475	0.86[AMR][1000 genomes]
rs4251490	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55973711	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv975630	chr12:44187584-44193621	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44154200-44194400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:44154200-44199200	Weak transcription	Gastric	stomach
3	chr12:44154600-44199000	Weak transcription	Stomach Mucosa	stomach
4	chr12:44166600-44197200	Weak transcription	Fetal Brain Male	brain
5	chr12:44175000-44199000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:44175000-44199000	Weak transcription	Right Ventricle	heart
7	chr12:44177400-44196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44181800-44199000	Weak transcription	Aorta	Aorta
9	chr12:44181800-44199000	Weak transcription	Esophagus	oesophagus
10	chr12:44181800-44199200	Weak transcription	Pancreas	Pancrea
11	chr12:44182200-44198800	Weak transcription	Fetal Stomach	stomach
12	chr12:44182400-44194600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:44182400-44196600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:44182400-44199200	Weak transcription	Lung	lung
15	chr12:44182400-44199400	Weak transcription	Spleen	Spleen
16	chr12:44182400-44199600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:44184400-44196800	Weak transcription	Fetal Heart	heart
18	chr12:44186800-44197200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:44186800-44197200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:44187000-44198400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:44187200-44196600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:44187200-44197600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:44187200-44198200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:44188400-44196600	Strong transcription	NHDF-Ad	bronchial
25	chr12:44188600-44195800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:44188600-44197000	Strong transcription	Osteobl	bone
27	chr12:44188600-44198200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:44188600-44198400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:44188800-44195000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:44188800-44195800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr12:44188800-44196800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:44188800-44196800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:44188800-44196800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:44188800-44197000	Strong transcription	Liver	Liver
35	chr12:44188800-44197600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:44188800-44197800	Strong transcription	HSMM	muscle
37	chr12:44188800-44198000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:44189000-44192800	Strong transcription	HSMMtube	muscle
39	chr12:44189000-44194800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:44189000-44194800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:44189000-44196600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:44189000-44196600	Strong transcription	Dnd41	blood
43	chr12:44189000-44196800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:44189000-44197000	Strong transcription	Adipose Nuclei	Adipose
45	chr12:44189000-44197200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr12:44189000-44197400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:44189000-44197400	Strong transcription	NH-A	brain
48	chr12:44189000-44198000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:44189000-44198200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:44189000-44198200	Strong transcription	Placenta	Placenta

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