Variant report

Variant	rs12457749
Chromosome Location	chr18:12015915-12015916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12015892..12018624-chr18:12025559..12027409,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72873599	0.90[EUR][1000 genomes]
rs8084851	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8097058	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

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	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription 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	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS 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	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv528699	chr18:11989416-12029857	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
2	chr18:11993400-12016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:11996600-12035000	Weak transcription	Primary T cells from cord blood	blood
4	chr18:11996800-12017200	Weak transcription	Fetal Thymus	thymus
5	chr18:11996800-12034400	Weak transcription	Primary B cells from cord blood	blood
6	chr18:11997000-12034400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr18:11998400-12034000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr18:11998800-12029400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:11999000-12017400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr18:11999000-12019200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:11999000-12019400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr18:11999000-12019400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:11999000-12034000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr18:11999000-12035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr18:11999200-12035800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr18:12000800-12018400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr18:12002000-12028400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:12003600-12025600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:12003600-12027000	Strong transcription	Placenta	Placenta
20	chr18:12003800-12018600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr18:12005400-12017600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr18:12008200-12017800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:12008600-12018600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr18:12010000-12017400	Strong transcription	HepG2	liver
25	chr18:12010200-12026600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:12010400-12016000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:12010400-12018800	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr18:12011000-12016400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr18:12012200-12016400	Genic enhancers	Fetal Muscle Leg	muscle
30	chr18:12012200-12017600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr18:12012200-12017600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:12012600-12016400	Enhancers	Fetal Kidney	kidney
33	chr18:12013200-12016000	Strong transcription	Spleen	Spleen
34	chr18:12013200-12017600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr18:12013400-12016000	Genic enhancers	Esophagus	oesophagus
36	chr18:12013600-12016000	Enhancers	Fetal Brain Male	brain
37	chr18:12013600-12016000	Strong transcription	Ovary	ovary
38	chr18:12013600-12018600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:12013600-12021400	Weak transcription	A549	lung
40	chr18:12014000-12016400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr18:12014000-12016400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr18:12014200-12016000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr18:12014200-12016000	Genic enhancers	Left Ventricle	heart
44	chr18:12014200-12016000	Genic enhancers	Lung	lung
45	chr18:12014200-12016400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:12014200-12016400	Enhancers	Fetal Intestine Large	intestine
47	chr18:12014400-12016200	Enhancers	Fetal Brain Female	brain
48	chr18:12014400-12016400	Enhancers	HMEC	breast
49	chr18:12014400-12016600	Genic enhancers	Fetal Intestine Small	intestine
50	chr18:12014400-12026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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