Variant report

Variant	rs9945360
Chromosome Location	chr18:9148164-9148165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9146619..9148558-chr18:9153184..9154759,2	K562	blood:
2	chr18:9145780..9149293-chr18:9151722..9154723,3	MCF-7	breast:
3	chr18:9073419..9074239-chr18:9147700..9148986,7	MCF-7	breast:
4	chr18:9073390..9073893-chr18:9147662..9148364,2	MCF-7	breast:
5	chr18:9147696..9148402-chr18:9516137..9516760,2	MCF-7	breast:
6	chr18:9142397..9144914-chr18:9146594..9148410,2	K562	blood:
7	chr18:9103321..9105188-chr18:9146255..9148177,2	MCF-7	breast:
8	chr18:9073278..9074237-chr18:9147638..9148595,6	K562	blood:

Variant related genes	Relation type
ENSG00000178127	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10451358	0.90[CHD][hapmap]
rs11660603	0.84[CHD][hapmap]
rs11661711	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12607307	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12958093	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1443596	0.90[CHD][hapmap]
rs1472944	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17413793	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap]
rs1893198	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs2155707	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs34452937	0.82[ASN][1000 genomes]
rs4078337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4130178	0.82[CHB][hapmap]
rs4131992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs4148965	0.82[MEX][hapmap]
rs4148966	0.86[ASN][1000 genomes]
rs4148967	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4603624	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4797356	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797361	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4798766	0.82[CEU][hapmap]
rs4798772	0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4798776	0.94[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798778	0.95[CEU][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4798782	0.82[ASN][1000 genomes]
rs4798785	0.90[CHD][hapmap]
rs4798786	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs4798791	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs56046470	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6417048	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6506644	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs6506648	0.90[CHD][hapmap]
rs6506649	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7228251	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]
rs7229883	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs7231452	0.90[CHD][hapmap]
rs7235514	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs7504137	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7504603	0.95[CEU][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7505120	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7506291	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs8083078	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs8087306	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs8089693	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs8092135	0.90[CHD][hapmap]
rs8092613	0.82[CHB][hapmap]
rs874250	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs894755	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs906807	0.82[CHB][hapmap]
rs9652952	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs977581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9944905	0.82[ASN][1000 genomes]
rs9946468	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9946695	0.91[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs9947027	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9948560	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9952006	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9959998	0.82[ASN][1000 genomes]
rs9960129	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs9966631	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998171	0.90[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9138200-9162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:9138600-9148800	Weak transcription	Gastric	stomach
3	chr18:9138600-9154200	Weak transcription	Lung	lung
4	chr18:9138600-9156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:9138800-9150000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:9138800-9150400	Enhancers	Primary B cells from peripheral blood	blood
7	chr18:9140000-9151600	Weak transcription	Right Ventricle	heart
8	chr18:9140000-9162000	Weak transcription	Thymus	Thymus
9	chr18:9140000-9163000	Weak transcription	Fetal Intestine Large	intestine
10	chr18:9140200-9148400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr18:9140200-9155400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:9140600-9148200	Weak transcription	Fetal Brain Male	brain
13	chr18:9140800-9160200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr18:9141200-9149400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr18:9141600-9153000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr18:9141600-9161000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr18:9142200-9148800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr18:9142400-9149000	Enhancers	Primary B cells from cord blood	blood
19	chr18:9142400-9174000	Weak transcription	HSMMtube	muscle
20	chr18:9143200-9148200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr18:9143200-9149000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr18:9143400-9149000	Enhancers	Duodenum Mucosa	Duodenum
23	chr18:9143400-9150000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:9143400-9150400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr18:9143400-9150600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr18:9143800-9148600	Weak transcription	Pancreas	Pancrea
27	chr18:9143800-9149600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr18:9143800-9150600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:9143800-9159000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr18:9144600-9148400	Enhancers	Colon Smooth Muscle	Colon
31	chr18:9144600-9149400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr18:9144800-9148200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:9145000-9148200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr18:9145200-9148200	Enhancers	Brain Angular Gyrus	brain
35	chr18:9145200-9148400	Enhancers	Brain Substantia Nigra	brain
36	chr18:9145200-9148400	Enhancers	Rectal Smooth Muscle	rectum
37	chr18:9145200-9149400	Enhancers	Stomach Smooth Muscle	stomach
38	chr18:9145200-9149400	Enhancers	K562	blood
39	chr18:9145400-9148600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr18:9145400-9154200	Weak transcription	Left Ventricle	heart
41	chr18:9145600-9148800	Enhancers	Fetal Heart	heart
42	chr18:9145600-9149400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:9145600-9150600	Enhancers	Primary T cells from cord blood	blood
44	chr18:9145600-9156200	Weak transcription	HMEC	breast
45	chr18:9145800-9148400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:9145800-9154000	Weak transcription	Spleen	Spleen
47	chr18:9146000-9148200	Flanking Active TSS	GM12878-XiMat	blood
48	chr18:9146200-9148400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr18:9146200-9148400	Enhancers	Osteobl	bone
50	chr18:9146200-9150600	Enhancers	Liver	Liver

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