Variant report

Variant	rs9947940
Chromosome Location	chr18:12673136-12673137
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12672017..12674011-chr18:12701088..12702712,2	MCF-7	breast:
2	chr18:12671690..12675080-chr18:12702112..12705449,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101624	Chromatin interaction
ENSG00000128789	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28446685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28478396	0.91[AFR][1000 genomes]
rs28489475	0.83[AFR][1000 genomes]
rs28521370	0.91[AFR][1000 genomes]
rs28573711	0.91[AFR][1000 genomes]
rs28876145	0.91[AFR][1000 genomes]
rs57257133	0.83[AFR][1000 genomes]
rs58664932	0.91[AFR][1000 genomes]
rs60689649	0.91[AFR][1000 genomes]
rs8091734	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs8094715	0.91[AFR][1000 genomes]
rs9944881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953066	0.91[AFR][1000 genomes]
rs9960249	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9964146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1791969	chr18:12643193-12697711	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3397790	chr18:12649001-12673755	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv576507	chr18:12657195-12673187	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12658400-12674000	Weak transcription	Spleen	Spleen
2	chr18:12658800-12673400	Weak transcription	Primary T cells from cord blood	blood
3	chr18:12658800-12674000	Weak transcription	Fetal Lung	lung
4	chr18:12658800-12674000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:12658800-12679200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:12658800-12701800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:12659000-12673200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:12659000-12673200	Weak transcription	Brain Substantia Nigra	brain
9	chr18:12659000-12673200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr18:12659000-12673400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:12659000-12673400	Weak transcription	Fetal Muscle Leg	muscle
12	chr18:12659000-12673400	Weak transcription	Left Ventricle	heart
13	chr18:12659000-12674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:12659000-12674000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr18:12659000-12674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:12659000-12674000	Weak transcription	Brain Angular Gyrus	brain
17	chr18:12659000-12674000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:12659000-12674000	Weak transcription	Right Ventricle	heart
19	chr18:12659000-12676600	Weak transcription	Colon Smooth Muscle	Colon
20	chr18:12659000-12679200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr18:12659000-12679200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:12659000-12679400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr18:12659000-12700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:12659200-12673200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:12659200-12673400	Weak transcription	Brain Anterior Caudate	brain
26	chr18:12659200-12673800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr18:12659200-12674000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:12659200-12674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:12659200-12674000	Weak transcription	HSMMtube	muscle
30	chr18:12659400-12673200	Weak transcription	Adipose Nuclei	Adipose
31	chr18:12659600-12674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:12659800-12679200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr18:12660000-12692600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr18:12660200-12677800	Weak transcription	HMEC	breast
35	chr18:12660400-12674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:12660400-12677800	Weak transcription	NHDF-Ad	bronchial
37	chr18:12660400-12679000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr18:12660400-12700800	Weak transcription	Fetal Brain Male	brain
39	chr18:12661000-12679000	Weak transcription	HUVEC	blood vessel
40	chr18:12661800-12674000	Weak transcription	Ovary	ovary
41	chr18:12662000-12673200	Weak transcription	Fetal Stomach	stomach
42	chr18:12662800-12701600	Weak transcription	Aorta	Aorta
43	chr18:12664800-12679000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:12665800-12684200	Weak transcription	Pancreas	Pancrea
45	chr18:12666600-12673400	Weak transcription	Fetal Intestine Small	intestine
46	chr18:12666800-12673200	Weak transcription	Thymus	Thymus
47	chr18:12667000-12701600	Weak transcription	Gastric	stomach
48	chr18:12667800-12679000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr18:12668200-12675400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:12668400-12674200	Weak transcription	Lung	lung

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