Variant report

Variant	rs11545506
Chromosome Location	chr18:11999115-11999116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11080537	1.00[CEU][hapmap]
rs11660567	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap]
rs2002212	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs595499	0.87[ASN][1000 genomes]
rs596136	0.87[ASN][1000 genomes]
rs620705	0.85[ASN][1000 genomes]
rs67450563	0.85[AFR][1000 genomes]
rs7230346	0.82[JPT][hapmap]
rs7240032	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs7244678	0.93[ASW][hapmap];0.80[CHB][hapmap];0.90[LWK][hapmap];0.80[MKK][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs873085	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs873086	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
2	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
3	chr18:11991000-11999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr18:11993400-11999400	Enhancers	Fetal Muscle Leg	muscle
5	chr18:11993400-12016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr18:11995000-11999200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:11995400-11999200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:11995400-12001800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:11995600-11999200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:11995600-11999400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:11995600-12014400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:11995800-11999400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr18:11996000-11999200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr18:11996000-11999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:11996000-11999200	Weak transcription	Fetal Intestine Large	intestine
16	chr18:11996000-11999200	Enhancers	HepG2	liver
17	chr18:11996000-12001400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:11996000-12001400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr18:11996000-12004000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:11996000-12004800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:11996000-12004800	Weak transcription	HMEC	breast
22	chr18:11996000-12005600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:11996200-11999200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:11996200-11999200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:11996200-11999400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:11996200-11999600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr18:11996200-12004800	Weak transcription	NHEK	skin
28	chr18:11996200-12005200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr18:11996200-12005600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr18:11996200-12012200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:11996200-12014800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:11996200-12015400	Weak transcription	Brain Anterior Caudate	brain
33	chr18:11996400-11999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:11996400-12001400	Weak transcription	Thymus	Thymus
35	chr18:11996400-12002200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr18:11996400-12004000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr18:11996400-12005000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:11996400-12007800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr18:11996600-11999200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr18:11996600-11999200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:11996600-11999200	Weak transcription	Fetal Intestine Small	intestine
42	chr18:11996600-12005000	Weak transcription	GM12878-XiMat	blood
43	chr18:11996600-12035000	Weak transcription	Primary T cells from cord blood	blood
44	chr18:11996800-11999200	Weak transcription	Spleen	Spleen
45	chr18:11996800-11999600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr18:11996800-12001000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr18:11996800-12001400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr18:11996800-12017200	Weak transcription	Fetal Thymus	thymus
49	chr18:11996800-12034400	Weak transcription	Primary B cells from cord blood	blood
50	chr18:11997000-11999200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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