Variant report

Variant	rs741189
Chromosome Location	chr2:20452776-20452777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20444479..20447318-chr2:20451928..20453466,2	MCF-7	breast:
2	chr2:20445683..20448261-chr2:20451475..20453272,2	MCF-7	breast:
3	chr2:20451918..20453855-chr2:20460102..20461929,2	MCF-7	breast:
4	chr2:20452082..20453691-chr2:20458227..20459851,2	MCF-7	breast:
5	chr2:20450501..20452950-chr2:20453500..20455085,2	K562	blood:

Variant related genes	Relation type
ENSG00000238735	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10153828	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10171976	1.00[YRI][hapmap]
rs10172088	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10176257	1.00[CEU][hapmap]
rs10179429	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10182834	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10189781	1.00[AMR][1000 genomes]
rs10193751	1.00[CEU][hapmap]
rs10195153	1.00[CEU][hapmap]
rs10195817	1.00[AMR][1000 genomes]
rs10197941	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10204489	1.00[AMR][1000 genomes]
rs10207798	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs13390701	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs13391140	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs13409830	1.00[AMR][1000 genomes]
rs13421653	1.00[CEU][hapmap]
rs13425933	1.00[CEU][hapmap]
rs13426989	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs28732678	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62123438	1.00[AMR][1000 genomes]
rs62123439	1.00[AMR][1000 genomes]
rs62123441	0.89[AMR][1000 genomes]
rs62123443	1.00[AMR][1000 genomes]
rs6744963	1.00[CEU][hapmap]
rs7565347	1.00[CEU][hapmap]
rs7589484	1.00[CEU][hapmap]
rs759221	1.00[CEU][hapmap]
rs9653390	1.00[CEU][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	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv524207	chr2:20448561-20503436	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:20441400-20453000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:20442000-20453400	Weak transcription	Pancreas	Pancrea
4	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:20442800-20455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:20442800-20474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:20443000-20456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:20444200-20457200	Strong transcription	A549	lung
9	chr2:20444400-20489000	Weak transcription	Stomach Mucosa	stomach
10	chr2:20444800-20452800	Weak transcription	Psoas Muscle	Psoas
11	chr2:20445200-20452800	Weak transcription	Ovary	ovary
12	chr2:20445400-20457000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:20445400-20463600	Strong transcription	Fetal Thymus	thymus
14	chr2:20445400-20473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:20445600-20453000	Weak transcription	Aorta	Aorta
16	chr2:20445600-20456600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:20445800-20456600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:20445800-20463600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:20445800-20465400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:20446000-20463400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:20446000-20464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:20446000-20464600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:20446200-20456000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr2:20446200-20456600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:20446200-20459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:20446200-20463400	Strong transcription	Liver	Liver
27	chr2:20446200-20464600	Strong transcription	Placenta	Placenta
28	chr2:20446400-20456400	Strong transcription	NHDF-Ad	bronchial
29	chr2:20446400-20463400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:20446400-20463400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:20446400-20463800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:20446400-20473600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:20446600-20457400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:20446600-20460400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:20446600-20463600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:20446800-20456600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr2:20446800-20463600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:20446800-20463600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:20446800-20465400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:20447000-20455800	Strong transcription	Colonic Mucosa	Colon
41	chr2:20447000-20456000	Strong transcription	Adipose Nuclei	Adipose
42	chr2:20447000-20456000	Strong transcription	HUVEC	blood vessel
43	chr2:20447000-20456600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:20447000-20456600	Strong transcription	GM12878-XiMat	blood
45	chr2:20447000-20462400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:20447000-20463400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:20447000-20463600	Strong transcription	NH-A	brain
48	chr2:20447000-20463600	Strong transcription	Osteobl	bone
49	chr2:20447000-20464000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:20447000-20464600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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