Variant report

Variant	rs4148965
Chromosome Location	chr18:9109484-9109485
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9104527..9106876-chr18:9108422..9111915,5	MCF-7	breast:
2	chr18:9109185..9111823-chr18:9131612..9133960,2	K562	blood:

Variant related genes	Relation type
ENSG00000266053	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10451358	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs1156044	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs11660603	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11661711	0.83[CHB][hapmap];0.90[CHD][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs1396740	0.98[ASN][1000 genomes]
rs1443596	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs2028656	0.95[JPT][hapmap]
rs2276095	0.85[ASN][1000 genomes]
rs4130178	1.00[JPT][hapmap]
rs4148964	0.91[ASN][1000 genomes]
rs4797356	0.87[ASW][hapmap];0.82[MEX][hapmap]
rs4798771	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4798772	0.84[CHD][hapmap]
rs4798776	0.84[CEU][hapmap]
rs4798778	0.84[CHD][hapmap]
rs4798785	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs4798789	0.90[JPT][hapmap]
rs4798790	0.95[JPT][hapmap]
rs6417048	0.85[AFR][1000 genomes]
rs6506644	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs6506648	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs7227910	0.83[ASN][1000 genomes]
rs7229883	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7231452	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs7235514	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7504603	0.87[CHB][hapmap]
rs7505266	0.82[ASN][1000 genomes]
rs8083078	1.00[JPT][hapmap]
rs8092135	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs8092613	1.00[JPT][hapmap]
rs874250	0.89[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs906807	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9945360	0.82[MEX][hapmap]
rs998171	0.89[CHD][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4148965	KIAA0802	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9103400-9111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:9103400-9111600	Weak transcription	Pancreas	Pancrea
3	chr18:9103400-9113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:9103400-9113400	Weak transcription	Spleen	Spleen
5	chr18:9103600-9110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:9103800-9117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:9104400-9116800	Weak transcription	Esophagus	oesophagus
8	chr18:9104400-9117000	Weak transcription	Lung	lung
9	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:9104600-9111600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr18:9104600-9112200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr18:9104800-9110400	Enhancers	Brain Substantia Nigra	brain
13	chr18:9105000-9112600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr18:9106200-9110000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr18:9106200-9110600	Enhancers	Brain Anterior Caudate	brain
16	chr18:9106200-9111400	Enhancers	HepG2	liver
17	chr18:9106200-9111800	Enhancers	Duodenum Mucosa	Duodenum
18	chr18:9106200-9111800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr18:9106200-9116800	Weak transcription	Placenta	Placenta
20	chr18:9106200-9117000	Enhancers	Colon Smooth Muscle	Colon
21	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:9106400-9109600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:9106400-9109800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr18:9107000-9109800	Enhancers	NHLF	lung
25	chr18:9107000-9111400	Weak transcription	Right Atrium	heart
26	chr18:9107000-9113200	Weak transcription	HSMMtube	muscle
27	chr18:9107000-9113400	Weak transcription	Fetal Muscle Leg	muscle
28	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr18:9107200-9111200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr18:9107200-9111600	Enhancers	Liver	Liver
31	chr18:9107400-9110800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr18:9107400-9111400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr18:9107400-9113200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr18:9107400-9116000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:9107600-9109600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr18:9107600-9110200	Enhancers	Primary B cells from cord blood	blood
38	chr18:9107600-9110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr18:9107600-9110400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr18:9107600-9110600	Weak transcription	Right Ventricle	heart
41	chr18:9107600-9116400	Weak transcription	HMEC	breast
42	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
43	chr18:9107800-9112000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr18:9107800-9114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr18:9107800-9116800	Enhancers	Primary B cells from peripheral blood	blood
46	chr18:9107800-9116800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
48	chr18:9108000-9109600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:9108000-9109600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr18:9108000-9109600	Enhancers	Stomach Smooth Muscle	stomach

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