Variant report

Variant	rs1204007
Chromosome Location	chr2:19986406-19986407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:19984516..19987082-chr2:19990162..19992121,2	MCF-7	breast:
2	chr2:19983582..19988390-chr2:19994942..20000184,6	MCF-7	breast:
3	chr2:19984950..19987899-chr2:19994485..19997173,2	K562	blood:
4	chr2:19986165..19988032-chr2:20101157..20102793,2	K562	blood:

Variant related genes	Relation type
ENSG00000183891	Chromatin interaction
ENSG00000271991	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1204005	0.85[GIH][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs1204006	0.84[GIH][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes]
rs1204008	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1204009	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2348018	0.84[AMR][1000 genomes]
rs60681070	0.93[ASN][1000 genomes]
rs9679438	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv873710	chr2:19908539-20026319	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv873711	chr2:19950864-20073860	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv581154	chr2:19974697-19995470	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1847856	chr2:19983563-19989402	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1850703	chr2:19983563-20011972	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:19983000-19986800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:19984200-19987000	Enhancers	HMEC	breast
3	chr2:19984200-19987800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:19984600-19986800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:19984600-19987000	Enhancers	Osteobl	bone
6	chr2:19984600-19987800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:19984800-19986800	Enhancers	Adipose Nuclei	Adipose
8	chr2:19984800-19986800	Enhancers	Psoas Muscle	Psoas
9	chr2:19984800-19987000	Enhancers	Hela-S3	cervix
10	chr2:19984800-19987200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:19984800-19987200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:19985200-19986800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:19985200-19986800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:19985200-19986800	Enhancers	Aorta	Aorta
15	chr2:19985200-19986800	Enhancers	NHEK	skin
16	chr2:19985200-19987000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:19985200-19987000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:19985200-19987000	Enhancers	NHDF-Ad	bronchial
19	chr2:19985200-19987200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:19985200-19987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:19985200-19987200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:19985200-19990200	Weak transcription	Right Atrium	heart
23	chr2:19985400-19986800	Enhancers	NH-A	brain
24	chr2:19985400-19987200	Enhancers	NHLF	lung
25	chr2:19985400-19987400	Enhancers	HSMM	muscle
26	chr2:19985400-19987800	Enhancers	A549	lung
27	chr2:19985600-19986800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:19985600-19987400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:19985800-19986800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:19985800-19987000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:19985800-19987000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:19985800-19987000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:19985800-19987000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:19985800-19987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:19985800-19987200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr2:19985800-19987600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:19986000-19986600	Enhancers	HUVEC	blood vessel
38	chr2:19986000-19986800	Bivalent Enhancer	HepG2	liver
39	chr2:19986000-19986800	Flanking Active TSS	K562	blood
40	chr2:19986000-19987000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:19986000-19987000	Enhancers	HSMMtube	muscle
42	chr2:19986000-19987800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:19986000-19988000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:19986200-19986600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:19986200-19987000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr2:19986200-19987200	Enhancers	Placenta	Placenta
47	chr2:19986400-19987000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:19986400-19987600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:19986400-19987600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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