Variant report

Variant	rs7228251
Chromosome Location	chr18:9284602-9284603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10451358	0.90[CHD][hapmap]
rs11660603	0.84[CHD][hapmap]
rs11661711	0.96[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap]
rs12150725	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12958093	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs1443596	0.90[CHD][hapmap]
rs17413793	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1893198	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2155707	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28418978	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34310409	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34452937	0.84[EUR][1000 genomes]
rs4078337	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4131992	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4148967	0.96[CEU][hapmap];0.95[JPT][hapmap]
rs4603624	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4797356	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap]
rs4797361	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4798772	0.95[CHD][hapmap];0.95[JPT][hapmap]
rs4798776	0.89[CEU][hapmap];0.80[CHB][hapmap]
rs4798778	0.91[CEU][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs4798782	0.85[EUR][1000 genomes]
rs4798784	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4798785	0.90[CHD][hapmap]
rs4798786	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4798788	0.90[AFR][1000 genomes]
rs4798791	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6506644	0.90[CHD][hapmap]
rs6506648	0.90[CHD][hapmap]
rs6506649	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7229883	0.90[CHD][hapmap]
rs7231452	0.90[CHD][hapmap]
rs7232337	0.85[ASN][1000 genomes]
rs7235514	0.90[CHD][hapmap]
rs7504603	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs7506008	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7506291	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs8087306	0.91[JPT][hapmap]
rs8089693	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8092135	0.90[CHD][hapmap]
rs8097848	0.86[EUR][1000 genomes]
rs874250	0.90[CHD][hapmap]
rs894755	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9304033	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304034	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304036	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs977581	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9944905	0.85[EUR][1000 genomes]
rs9945360	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap]
rs9946468	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9946475	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9946695	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9946852	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9947027	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs9948560	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs9959998	0.85[EUR][1000 genomes]
rs9960129	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs998171	0.90[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1055696	chr18:9191679-9309805	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9216000-9289600	Weak transcription	HMEC	breast
2	chr18:9234800-9290000	Weak transcription	NHLF	lung
3	chr18:9235000-9285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:9260200-9285600	Weak transcription	Small Intestine	intestine
5	chr18:9265000-9286000	Weak transcription	K562	blood
6	chr18:9265200-9286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr18:9265400-9286800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:9265400-9287200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr18:9265600-9288400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:9265600-9289600	Weak transcription	Esophagus	oesophagus
11	chr18:9265600-9291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:9265600-9292400	Weak transcription	Aorta	Aorta
13	chr18:9265600-9298200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:9265800-9286800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr18:9265800-9290000	Weak transcription	HSMMtube	muscle
16	chr18:9270400-9284800	Strong transcription	Liver	Liver
17	chr18:9271800-9284800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr18:9273400-9286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr18:9276600-9288400	Weak transcription	Ovary	ovary
20	chr18:9278400-9287400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:9278600-9290200	Weak transcription	HepG2	liver
22	chr18:9279000-9288200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr18:9279400-9290000	Weak transcription	Fetal Lung	lung
24	chr18:9280200-9285000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr18:9280400-9286400	Weak transcription	Fetal Brain Male	brain
26	chr18:9280600-9285600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr18:9280600-9292400	Weak transcription	Pancreas	Pancrea
28	chr18:9280600-9293000	Weak transcription	Fetal Muscle Leg	muscle
29	chr18:9280800-9286200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr18:9280800-9290000	Weak transcription	Fetal Stomach	stomach
31	chr18:9281000-9284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:9281000-9285200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:9281000-9286000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:9281000-9286000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:9281200-9284800	Weak transcription	Fetal Intestine Large	intestine
36	chr18:9281200-9285800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr18:9281200-9285800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr18:9281200-9286000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:9281200-9286400	Weak transcription	Primary T cells from cord blood	blood
40	chr18:9281200-9287000	Weak transcription	Left Ventricle	heart
41	chr18:9281200-9287400	Weak transcription	Brain Anterior Caudate	brain
42	chr18:9281200-9287600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:9281200-9289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:9281200-9290000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:9281200-9292400	Weak transcription	Lung	lung
46	chr18:9281200-9292600	Weak transcription	Thymus	Thymus
47	chr18:9281400-9285800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:9281400-9286000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr18:9281400-9287200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr18:9281400-9290400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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