Variant report

Variant	rs6715980
Chromosome Location	chr2:55231841-55231842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55226114..55228933-chr2:55231694..55233416,2	MCF-7	breast:
2	chr2:55230002..55232392-chr2:55276003..55278678,2	MCF-7	breast:
3	chr2:55228082..55231303-chr2:55231498..55236378,7	K562	blood:
4	chr2:55137803..55139828-chr2:55230567..55233555,2	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10084445	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10170102	0.92[EUR][1000 genomes]
rs10175952	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10179491	0.83[EUR][1000 genomes]
rs10180207	0.81[EUR][1000 genomes]
rs10181115	0.92[EUR][1000 genomes]
rs10182203	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10189094	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs10197533	1.00[CEU][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes]
rs10198096	0.94[EUR][1000 genomes]
rs10207701	0.89[EUR][1000 genomes]
rs11125554	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs13385999	1.00[CEU][hapmap];0.90[GIH][hapmap];0.81[EUR][1000 genomes]
rs13387710	0.89[EUR][1000 genomes]
rs13400353	1.00[CEU][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs13416852	0.87[GIH][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs17046567	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17046569	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.94[EUR][1000 genomes]
rs1822617	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs2580769	0.81[ASW][hapmap];0.83[LWK][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap]
rs4358163	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60989108	0.94[EUR][1000 genomes]
rs6545469	0.84[GIH][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs6744637	0.87[GIH][hapmap];0.85[TSI][hapmap]
rs6758258	0.84[GIH][hapmap];1.00[MEX][hapmap]
rs72912579	0.85[EUR][1000 genomes]
rs7570298	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7584992	0.84[GIH][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55191800-55234200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:55198200-55237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
4	chr2:55211200-55232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:55214200-55234400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:55214400-55232800	Weak transcription	Fetal Brain Female	brain
7	chr2:55214800-55234200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:55214800-55236800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:55215200-55234200	Weak transcription	Dnd41	blood
10	chr2:55219400-55233400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:55220400-55236800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:55223000-55237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:55224800-55236800	Enhancers	A549	lung
14	chr2:55225200-55234600	Enhancers	Liver	Liver
15	chr2:55226600-55233800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:55226600-55237200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:55226800-55235200	Enhancers	Colon Smooth Muscle	Colon
18	chr2:55226800-55236600	Weak transcription	Right Atrium	heart
19	chr2:55226800-55237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:55227000-55232200	Enhancers	NHEK	skin
21	chr2:55227000-55236600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:55227200-55232600	Enhancers	Brain Angular Gyrus	brain
23	chr2:55227200-55233400	Weak transcription	Fetal Thymus	thymus
24	chr2:55227200-55236800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:55227400-55232200	Weak transcription	Fetal Lung	lung
26	chr2:55227400-55236800	Weak transcription	Fetal Brain Male	brain
27	chr2:55227400-55237000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:55227600-55232000	Weak transcription	HepG2	liver
29	chr2:55227600-55232800	Enhancers	NHDF-Ad	bronchial
30	chr2:55227600-55233200	Weak transcription	Primary T cells from cord blood	blood
31	chr2:55227600-55234000	Weak transcription	Stomach Mucosa	stomach
32	chr2:55227600-55236400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:55227600-55236800	Weak transcription	HSMMtube	muscle
34	chr2:55227600-55239000	Weak transcription	Hela-S3	cervix
35	chr2:55227800-55233400	Weak transcription	HMEC	breast
36	chr2:55227800-55233600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:55227800-55234400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:55227800-55234400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:55227800-55235600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:55227800-55236800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:55227800-55236800	Weak transcription	NH-A	brain
42	chr2:55228000-55232600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:55228000-55234400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:55228000-55236400	Weak transcription	GM12878-XiMat	blood
45	chr2:55228000-55236600	Weak transcription	Primary B cells from cord blood	blood
46	chr2:55228400-55235800	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:55228400-55236000	Enhancers	Brain Hippocampus Middle	brain
48	chr2:55228400-55236200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:55228600-55235000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:55228800-55232400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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