Variant report

Variant	rs2118036
Chromosome Location	chr4:148716490-148716491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148716400..148719081-chr4:148721482..148723868,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10027921	0.86[ASW][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10032488	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10857227	0.87[AFR][1000 genomes]
rs11099669	0.83[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs11729081	0.85[ASW][hapmap];0.82[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12502667	0.86[MEX][hapmap]
rs12640660	0.85[ASW][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap]
rs12645249	0.85[ASW][hapmap];0.82[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12648074	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12650280	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13116955	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13134018	0.90[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes]
rs13136202	0.84[EUR][1000 genomes]
rs1604785	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2055551	0.81[AMR][1000 genomes]
rs2134706	0.86[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4835456	0.85[CHB][hapmap]
rs6535556	0.86[MEX][hapmap]
rs6535558	0.81[AMR][1000 genomes]
rs6535559	0.81[AMR][1000 genomes]
rs6535561	0.92[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6811580	0.84[EUR][1000 genomes]
rs6822971	0.85[ASW][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes]
rs6829479	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6836509	0.86[MEX][hapmap]
rs6837391	0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6839987	0.81[AMR][1000 genomes]
rs6845560	0.85[ASW][hapmap];0.82[GIH][hapmap];0.85[MKK][hapmap];0.81[AMR][1000 genomes]
rs7673234	0.81[AMR][1000 genomes]
rs7673606	0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs9332471	0.92[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes]
rs964170	0.85[ASW][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:148708400-148721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:148709000-148721200	Weak transcription	Lung	lung
4	chr4:148709000-148721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:148709000-148721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:148709000-148721400	Weak transcription	Esophagus	oesophagus
7	chr4:148710400-148729600	Weak transcription	HSMM	muscle
8	chr4:148711000-148720200	Weak transcription	Fetal Stomach	stomach
9	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:148711600-148721200	Weak transcription	Pancreas	Pancrea
11	chr4:148713000-148721400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:148713800-148720400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:148714000-148716600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:148714200-148716600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:148714200-148716600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr4:148714200-148716800	Enhancers	Thymus	Thymus
17	chr4:148714200-148717800	Enhancers	Fetal Thymus	thymus
18	chr4:148714200-148720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:148714400-148716600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:148714400-148716800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:148714400-148716800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:148714600-148716600	Enhancers	Fetal Intestine Small	intestine
23	chr4:148714600-148716600	Enhancers	HepG2	liver
24	chr4:148714600-148716800	Enhancers	Fetal Intestine Large	intestine
25	chr4:148714800-148716600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr4:148714800-148716600	Flanking Active TSS	GM12878-XiMat	blood
27	chr4:148715000-148721000	Weak transcription	Right Atrium	heart
28	chr4:148715200-148719200	Weak transcription	Fetal Lung	lung
29	chr4:148715200-148720000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:148715200-148720200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:148715200-148721400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
33	chr4:148715400-148716600	Weak transcription	Aorta	Aorta
34	chr4:148715400-148717200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:148715400-148718400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:148715400-148719400	Weak transcription	Psoas Muscle	Psoas
37	chr4:148715400-148719600	Weak transcription	Left Ventricle	heart
38	chr4:148715400-148719600	Weak transcription	Right Ventricle	heart
39	chr4:148715400-148720200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:148715400-148720200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:148715400-148720400	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:148715400-148721200	Weak transcription	Gastric	stomach
43	chr4:148715400-148721200	Weak transcription	Ovary	ovary
44	chr4:148715400-148722800	Weak transcription	Fetal Heart	heart
45	chr4:148715600-148720000	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:148715600-148720200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:148715800-148720000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:148716000-148716800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:148716000-148720000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:148716000-148720200	Weak transcription	Duodenum Mucosa	Duodenum

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