Variant report

Variant	rs2018650
Chromosome Location	chr2:63272724-63272725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:63271659-63278263	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63269269..63274817-chr2:63275639..63278187,7	MCF-7	breast:

Variant related genes	Relation type
OTX1	TF binding region
ENSG00000231609	Chromatin interaction
ENSG00000115507	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12474184	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12991414	0.80[EUR][1000 genomes]
rs12996320	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13000344	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13004408	1.00[ASW][hapmap]
rs13006926	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap]
rs13026938	1.00[AFR][1000 genomes]
rs13027462	1.00[ASW][hapmap];0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17850223	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162011	0.94[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs2302567	0.91[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2710638	0.85[GIH][hapmap]
rs35617987	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4671052	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4671453	0.91[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs4671454	0.91[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]

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	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv874233	chr2:63269604-63290449	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63244000-63274400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:63244200-63274600	Weak transcription	Pancreas	Pancrea
3	chr2:63256800-63275600	Weak transcription	HMEC	breast
4	chr2:63262400-63275600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:63262600-63273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:63263000-63273200	Weak transcription	NH-A	brain
7	chr2:63263000-63276400	Weak transcription	A549	lung
8	chr2:63263600-63273800	Weak transcription	HUVEC	blood vessel
9	chr2:63266800-63276600	Weak transcription	HSMM	muscle
10	chr2:63267000-63274000	Weak transcription	NHDF-Ad	bronchial
11	chr2:63270800-63273200	Strong transcription	HepG2	liver
12	chr2:63271400-63274000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr2:63271600-63272800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr2:63271600-63273000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr2:63271600-63273200	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:63271600-63273600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:63271800-63272800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:63271800-63273000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:63271800-63273800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:63271800-63273800	Strong transcription	Ovary	ovary
21	chr2:63271800-63274000	Strong transcription	Adipose Nuclei	Adipose
22	chr2:63271800-63274000	Active TSS	Brain Germinal Matrix	brain
23	chr2:63271800-63274200	Strong transcription	Colon Smooth Muscle	Colon
24	chr2:63272000-63272800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr2:63272000-63272800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr2:63272000-63273400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:63272000-63274000	Strong transcription	NHLF	lung
28	chr2:63272000-63274600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:63272200-63273000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr2:63272200-63274200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:63272200-63274200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:63272200-63275600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:63272400-63272800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr2:63272400-63272800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr2:63272400-63273600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:63272400-63273600	Strong transcription	Liver	Liver
37	chr2:63272400-63274000	Active TSS	Fetal Brain Female	brain
38	chr2:63272400-63274200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:63272400-63274600	Weak transcription	GM12878-XiMat	blood
40	chr2:63272400-63275400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:63272600-63272800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:63272600-63273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:63272600-63273600	Weak transcription	Gastric	stomach
44	chr2:63272600-63274000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:63272600-63274000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr2:63272600-63274200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr2:63272600-63274400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:63272600-63274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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