Variant report

Variant	rs2847287
Chromosome Location	chr18:12815368-12815369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2542169	0.84[AFR][1000 genomes]
rs2847290	0.81[AFR][1000 genomes]
rs2847294	0.81[AFR][1000 genomes]
rs2847296	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
8	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12767400-12815800	Weak transcription	Gastric	stomach
2	chr18:12776800-12819800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
4	chr18:12787600-12815800	Weak transcription	Pancreas	Pancrea
5	chr18:12789000-12821400	Weak transcription	Small Intestine	intestine
6	chr18:12790200-12828000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr18:12790400-12815800	Weak transcription	K562	blood
8	chr18:12790600-12820000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:12791200-12815800	Weak transcription	Brain Germinal Matrix	brain
10	chr18:12791200-12819600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr18:12791400-12819600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:12791400-12837000	Weak transcription	NHDF-Ad	bronchial
13	chr18:12791600-12828000	Weak transcription	HUVEC	blood vessel
14	chr18:12791800-12821600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:12792200-12815800	Weak transcription	NH-A	brain
16	chr18:12792800-12815800	Weak transcription	Brain Angular Gyrus	brain
17	chr18:12792800-12819600	Weak transcription	NHLF	lung
18	chr18:12794600-12815800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:12795200-12815800	Weak transcription	Brain Anterior Caudate	brain
20	chr18:12797800-12819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:12801200-12815600	Weak transcription	HepG2	liver
22	chr18:12801800-12815600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:12802000-12842400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr18:12806400-12816600	Strong transcription	Primary B cells from cord blood	blood
25	chr18:12806400-12827600	Strong transcription	Dnd41	blood
26	chr18:12806800-12827400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr18:12807000-12815400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:12807000-12815600	Weak transcription	Fetal Brain Female	brain
29	chr18:12807200-12819600	Weak transcription	Brain Substantia Nigra	brain
30	chr18:12807200-12826600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr18:12807200-12842400	Weak transcription	Fetal Heart	heart
32	chr18:12807400-12816000	Weak transcription	Fetal Brain Male	brain
33	chr18:12807400-12821400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:12807800-12817400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:12808400-12818800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr18:12808400-12818800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr18:12808600-12827400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr18:12808800-12817400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr18:12808800-12817800	Strong transcription	Placenta	Placenta
40	chr18:12808800-12818400	Strong transcription	Primary T cells from cord blood	blood
41	chr18:12808800-12819000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:12808800-12827200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr18:12809000-12817200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr18:12809000-12817200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:12809000-12817600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr18:12809000-12817800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr18:12809000-12828000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr18:12809000-12828000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr18:12809200-12815600	Weak transcription	Hela-S3	cervix
50	chr18:12809400-12815800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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