Variant report

Variant	rs368531284
Chromosome Location	chr18:12655928-12655929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000128789	Chromatin interaction
ENSG00000267199	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:84 , 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	chr18:12653200-12656400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:12653200-12656600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:12653200-12656600	Weak transcription	Right Atrium	heart
12	chr18:12653200-12656600	Weak transcription	Right Ventricle	heart
13	chr18:12653200-12656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:12653200-12656800	Weak transcription	Esophagus	oesophagus
15	chr18:12653200-12657000	Weak transcription	Spleen	Spleen
16	chr18:12653400-12656400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr18:12653400-12656400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr18:12653400-12656600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr18:12653400-12656600	Weak transcription	Aorta	Aorta
20	chr18:12653400-12656600	Weak transcription	Psoas Muscle	Psoas
21	chr18:12653400-12657000	Weak transcription	Pancreas	Pancrea
22	chr18:12653400-12657000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:12653600-12656200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr18:12653600-12656400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:12653600-12656400	Weak transcription	A549	lung
26	chr18:12653600-12656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr18:12653600-12656600	Weak transcription	Liver	Liver
28	chr18:12653600-12656600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr18:12653800-12656600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr18:12653800-12656800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:12653800-12656800	Weak transcription	Lung	lung
32	chr18:12653800-12656800	Weak transcription	Ovary	ovary
33	chr18:12653800-12670400	Weak transcription	Dnd41	blood
34	chr18:12654000-12656400	Weak transcription	Adipose Nuclei	Adipose
35	chr18:12654000-12656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:12654000-12656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:12654200-12656000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr18:12655000-12656200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr18:12655000-12656400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:12655400-12656000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:12655400-12656200	Enhancers	NHDF-Ad	bronchial
42	chr18:12655400-12656400	Enhancers	Brain Hippocampus Middle	brain
43	chr18:12655400-12656400	Enhancers	Fetal Kidney	kidney
44	chr18:12655400-12656600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:12655400-12656600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr18:12655400-12656600	Enhancers	Brain Anterior Caudate	brain
47	chr18:12655400-12656600	Enhancers	Brain Substantia Nigra	brain
48	chr18:12655400-12656600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr18:12655400-12656600	Enhancers	Fetal Heart	heart
50	chr18:12655400-12656800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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