Variant report

Variant	rs539679774
Chromosome Location	chr18:12656429-12656430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr18:12656380-12659102	IMR90	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12374049..12378632-chr18:12655494..12660049,8	K562	blood:
2	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:
3	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
4	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
5	chr18:12443233..12445110-chr18:12655911..12658418,2	MCF-7	breast:
6	chr18:12543497..12545408-chr18:12653876..12656459,2	MCF-7	breast:
7	chr18:12375685..12377446-chr18:12655932..12658656,3	MCF-7	breast:
8	chr18:12375564..12378929-chr18:12655169..12659722,7	MCF-7	breast:
9	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
10	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:
11	chr18:12654302..12656873-chr18:12657659..12659911,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSMG2	TF binding region
ENSG00000215527	TF binding region
SPIRE1	TF binding region
ENSG00000141385	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000176014	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000267199	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000215527	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv576497	chr18:12650900-12658293	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv576498	chr18:12650900-12658436	Weak transcription Enhancers Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
13	esv3436179	chr18:12655852-12660050	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	esv3323207	chr18:12656377-12658925	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12646200-12657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12646200-12657000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:12646400-12656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:12646400-12656600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:12646400-12657000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:12648000-12656800	Weak transcription	Left Ventricle	heart
7	chr18:12648400-12656600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:12648600-12656800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:12653200-12656600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:12653200-12656600	Weak transcription	Right Atrium	heart
11	chr18:12653200-12656600	Weak transcription	Right Ventricle	heart
12	chr18:12653200-12656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:12653200-12656800	Weak transcription	Esophagus	oesophagus
14	chr18:12653200-12657000	Weak transcription	Spleen	Spleen
15	chr18:12653400-12656600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr18:12653400-12656600	Weak transcription	Aorta	Aorta
17	chr18:12653400-12656600	Weak transcription	Psoas Muscle	Psoas
18	chr18:12653400-12657000	Weak transcription	Pancreas	Pancrea
19	chr18:12653400-12657000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:12653600-12656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr18:12653600-12656600	Weak transcription	Liver	Liver
22	chr18:12653600-12656600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr18:12653800-12656600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:12653800-12656800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr18:12653800-12656800	Weak transcription	Lung	lung
26	chr18:12653800-12656800	Weak transcription	Ovary	ovary
27	chr18:12653800-12670400	Weak transcription	Dnd41	blood
28	chr18:12654000-12656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:12654000-12656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr18:12655400-12656600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:12655400-12656600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:12655400-12656600	Enhancers	Brain Anterior Caudate	brain
33	chr18:12655400-12656600	Enhancers	Brain Substantia Nigra	brain
34	chr18:12655400-12656600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr18:12655400-12656600	Enhancers	Fetal Heart	heart
36	chr18:12655400-12656800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:12655400-12657200	Active TSS	Fetal Brain Male	brain
38	chr18:12655400-12657400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:12655400-12658200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:12655400-12658200	Active TSS	Brain Germinal Matrix	brain
41	chr18:12655400-12658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:12655400-12659000	Active TSS	Brain Angular Gyrus	brain
43	chr18:12655400-12659000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr18:12655400-12659600	Active TSS	Fetal Brain Female	brain
45	chr18:12655600-12656600	Enhancers	Colon Smooth Muscle	Colon
46	chr18:12655600-12656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:12655800-12656600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr18:12655800-12656800	Flanking Active TSS	HUVEC	blood vessel
49	chr18:12655800-12659000	Active TSS	NHLF	lung
50	chr18:12656000-12657200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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