Variant report

Variant	rs12942605
Chromosome Location	chr17:33583365-33583366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33580087..33582936-chr17:33583093..33584763,4	MCF-7	breast:
2	chr17:33577147..33579303-chr17:33583101..33585838,2	MCF-7	breast:
3	chr17:33568388..33572007-chr17:33580593..33587454,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266947	Chromatin interaction
ENSG00000166750	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2291189	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71381426	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71381427	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9897359	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	esv2422399	chr17:33539240-33618601	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33571800-33585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:33571800-33589800	Weak transcription	Esophagus	oesophagus
3	chr17:33572000-33590000	Weak transcription	Colonic Mucosa	Colon
4	chr17:33572400-33583800	Weak transcription	Aorta	Aorta
5	chr17:33572400-33593800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:33572600-33592200	Weak transcription	Primary B cells from cord blood	blood
7	chr17:33575000-33583600	Weak transcription	Left Ventricle	heart
8	chr17:33576800-33585600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:33577200-33583600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:33577400-33585000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:33578000-33595800	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr17:33578200-33584600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr17:33578400-33583600	Weak transcription	HSMMtube	muscle
14	chr17:33579800-33585400	Enhancers	HUVEC	blood vessel
15	chr17:33579800-33586600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr17:33580200-33583800	Weak transcription	Thymus	Thymus
17	chr17:33580200-33588400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr17:33580600-33589800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr17:33581000-33583600	Weak transcription	Psoas Muscle	Psoas
20	chr17:33581200-33588200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr17:33581400-33583400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:33581400-33583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:33581400-33584600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:33581400-33593200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr17:33581400-33601000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr17:33581600-33583400	Weak transcription	HSMM	muscle
27	chr17:33581600-33583600	Weak transcription	Fetal Kidney	kidney
28	chr17:33581600-33583600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr17:33581600-33583600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr17:33581600-33583600	Weak transcription	Right Ventricle	heart
31	chr17:33581600-33583600	Weak transcription	HMEC	breast
32	chr17:33581600-33583800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr17:33581600-33584200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:33581600-33585000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr17:33581600-33585000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:33581600-33585600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:33581600-33586600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr17:33581600-33589600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr17:33581600-33593000	Weak transcription	Brain Angular Gyrus	brain
40	chr17:33581600-33595200	Weak transcription	Brain Anterior Caudate	brain
41	chr17:33581800-33583400	Weak transcription	Adipose Nuclei	Adipose
42	chr17:33581800-33583400	Weak transcription	Colon Smooth Muscle	Colon
43	chr17:33581800-33583400	Enhancers	A549	lung
44	chr17:33581800-33583600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:33581800-33583600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr17:33581800-33583600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr17:33581800-33583600	Enhancers	Hela-S3	cervix
48	chr17:33581800-33583600	Weak transcription	NHEK	skin
49	chr17:33581800-33583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:33581800-33583800	Weak transcription	Fetal Lung	lung

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