Variant report

Variant	rs16976886
Chromosome Location	chr18:11984069-11984070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11951098..11953868-chr18:11983215..11985135,2	K562	blood:
2	chr18:11945202..11946852-chr18:11982600..11984410,2	K562	blood:
3	chr18:11977841..11980802-chr18:11983345..11984923,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16976875	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2360082	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3786305	0.81[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3865368	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41491746	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs4455029	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs45442994	0.87[ASN][1000 genomes]
rs55638894	0.91[ASN][1000 genomes]
rs73945297	0.82[ASN][1000 genomes]
rs971363	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	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
9	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11980200-11984200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr18:11982200-11984400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr18:11982400-11987600	Weak transcription	Fetal Heart	heart
4	chr18:11982400-11988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
6	chr18:11982600-11984200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:11982600-11984200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:11982600-11984200	Enhancers	Adipose Nuclei	Adipose
9	chr18:11982600-11984400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:11982600-11984400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:11982600-11984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr18:11982600-11984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:11982600-11984400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:11982600-11984400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:11982600-11984400	Enhancers	Fetal Muscle Leg	muscle
16	chr18:11982600-11984400	Enhancers	Gastric	stomach
17	chr18:11982600-11985600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr18:11982600-11985800	Weak transcription	Right Atrium	heart
19	chr18:11982600-11986800	Weak transcription	Brain Germinal Matrix	brain
20	chr18:11982600-11987400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:11982600-11987800	Weak transcription	NHLF	lung
22	chr18:11982600-11995600	Weak transcription	Primary T cells from cord blood	blood
23	chr18:11982600-11995800	Weak transcription	Thymus	Thymus
24	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
25	chr18:11982800-11984200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr18:11982800-11984200	Flanking Active TSS	HepG2	liver
27	chr18:11982800-11984200	Flanking Active TSS	NHEK	skin
28	chr18:11982800-11984400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:11982800-11984600	Flanking Active TSS	Hela-S3	cervix
30	chr18:11983000-11984600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:11983200-11984200	Active TSS	A549	lung
32	chr18:11983200-11984200	Weak transcription	HSMMtube	muscle
33	chr18:11983200-11984600	Enhancers	Stomach Mucosa	stomach
34	chr18:11983200-11984800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:11983400-11984200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr18:11983400-11984200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:11983400-11984200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:11983400-11984200	Enhancers	Liver	Liver
39	chr18:11983400-11984200	Active TSS	Colonic Mucosa	Colon
40	chr18:11983400-11984200	Enhancers	Fetal Intestine Large	intestine
41	chr18:11983400-11984200	Enhancers	Fetal Lung	lung
42	chr18:11983400-11984200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr18:11983400-11984400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr18:11983400-11984400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:11983400-11984400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr18:11983400-11984400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:11983400-11984400	Enhancers	Fetal Muscle Trunk	muscle
48	chr18:11983400-11984400	Enhancers	Psoas Muscle	Psoas
49	chr18:11983400-11984400	Enhancers	GM12878-XiMat	blood
50	chr18:11983400-11984600	Enhancers	Rectal Mucosa Donor 29	rectum

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