Variant report

Variant	rs116077553
Chromosome Location	chr18:12978997-12978998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12946854..12949817-chr18:12978964..12982365,3	K562	blood:
2	chr18:12969942..12972168-chr18:12978134..12980197,2	K562	blood:
3	chr18:12977438..12979296-chr18:12990126..12991644,2	K562	blood:
4	chr18:12977796..12979633-chr18:12990126..12992980,2	K562	blood:

Variant related genes	Relation type
ENSG00000266969	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000101639	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3330087	chr18:12978952-12982050	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12948800-12989000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:12949200-12989400	Weak transcription	Psoas Muscle	Psoas
3	chr18:12950000-12990200	Weak transcription	Fetal Brain Male	brain
4	chr18:12951400-12990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr18:12951600-12988200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr18:12953200-12979000	Strong transcription	Fetal Thymus	thymus
7	chr18:12959000-12990200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr18:12968600-12983000	Weak transcription	HUVEC	blood vessel
9	chr18:12969800-12979000	Strong transcription	Primary B cells from cord blood	blood
10	chr18:12969800-12979000	Strong transcription	Osteobl	bone
11	chr18:12970000-12979000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr18:12970000-12979000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:12970200-12979000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:12970200-12979000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:12970400-12979000	Strong transcription	Primary T cells from cord blood	blood
16	chr18:12970400-12979000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:12970400-12979000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr18:12970400-12979200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:12970400-12979200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr18:12970600-12979000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr18:12970600-12979000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr18:12970600-12979000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr18:12970800-12979000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:12970800-12979000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr18:12970800-12979200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr18:12971000-12979000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr18:12971000-12979000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr18:12971600-12979000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr18:12971600-12979000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:12972800-12990000	Weak transcription	Brain Substantia Nigra	brain
31	chr18:12973200-12983400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr18:12973200-12990200	Weak transcription	Small Intestine	intestine
33	chr18:12974200-12979000	Genic enhancers	HepG2	liver
34	chr18:12974200-12990200	Weak transcription	Brain Hippocampus Middle	brain
35	chr18:12975600-12979000	Strong transcription	Hela-S3	cervix
36	chr18:12975800-12990200	Weak transcription	Right Ventricle	heart
37	chr18:12976000-12990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:12976200-12982200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:12976200-12982200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:12976200-12982600	Weak transcription	Fetal Kidney	kidney
41	chr18:12976200-12982600	Weak transcription	HSMM	muscle
42	chr18:12976200-12983000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr18:12976200-12984000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr18:12976400-12982800	Weak transcription	A549	lung
45	chr18:12976400-12983000	Weak transcription	Colonic Mucosa	Colon
46	chr18:12976400-12983000	Weak transcription	Left Ventricle	heart
47	chr18:12976400-12990000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr18:12976400-12990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr18:12976400-12990000	Weak transcription	Colon Smooth Muscle	Colon
50	chr18:12976400-12990000	Weak transcription	Stomach Mucosa	stomach

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