Variant report

Variant	rs741188
Chromosome Location	chr2:20452007-20452008
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	chr2:20441679..20444514-chr2:20449489..20452544,3	K562	blood:
5	chr2:20450501..20452950-chr2:20453500..20455085,2	K562	blood:

Variant related genes	Relation type
ENSG00000238735	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10192042	0.80[CEU][hapmap]
rs1043400	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10460445	0.80[EUR][1000 genomes]
rs10460449	0.80[EUR][1000 genomes]
rs10495704	0.87[CEU][hapmap]
rs11096654	0.84[EUR][1000 genomes]
rs11096661	0.83[CEU][hapmap]
rs11888357	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs11895228	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs11896241	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11898408	0.81[EUR][1000 genomes]
rs11900127	0.80[EUR][1000 genomes]
rs11902769	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11903745	0.80[EUR][1000 genomes]
rs12465832	0.80[EUR][1000 genomes]
rs12474897	0.83[EUR][1000 genomes]
rs12478265	0.82[EUR][1000 genomes]
rs17612703	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2015110	0.82[JPT][hapmap]
rs2072464	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2080190	0.80[EUR][1000 genomes]
rs2110410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2348703	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs2820	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3796066	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3821218	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs6748274	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs72785217	0.83[EUR][1000 genomes]
rs72785218	0.81[EUR][1000 genomes]
rs72785278	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72785282	0.81[EUR][1000 genomes]
rs72785295	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785297	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785298	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72785300	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72785301	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787406	0.83[EUR][1000 genomes]
rs72787409	0.84[EUR][1000 genomes]
rs72787411	0.84[EUR][1000 genomes]
rs72787415	0.84[EUR][1000 genomes]
rs72787433	0.80[EUR][1000 genomes]
rs72787499	0.80[EUR][1000 genomes]
rs72787500	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72787501	0.80[EUR][1000 genomes]
rs72788905	0.80[EUR][1000 genomes]
rs72788906	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7558385	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7595266	0.81[EUR][1000 genomes]

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	chr2:20436600-20452600	Weak transcription	Gastric	stomach
2	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:20440600-20452600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:20440800-20452200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:20440800-20452600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:20441400-20453000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:20442000-20452600	Weak transcription	Fetal Heart	heart
8	chr2:20442000-20453400	Weak transcription	Pancreas	Pancrea
9	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:20442200-20452600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:20442800-20455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:20442800-20474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:20443000-20456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:20444200-20452600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:20444200-20457200	Strong transcription	A549	lung
16	chr2:20444400-20489000	Weak transcription	Stomach Mucosa	stomach
17	chr2:20444600-20452600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:20444800-20452800	Weak transcription	Psoas Muscle	Psoas
19	chr2:20445200-20452600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:20445200-20452800	Weak transcription	Ovary	ovary
21	chr2:20445400-20457000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:20445400-20463600	Strong transcription	Fetal Thymus	thymus
23	chr2:20445400-20473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:20445600-20453000	Weak transcription	Aorta	Aorta
25	chr2:20445600-20456600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:20445800-20456600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:20445800-20463600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:20445800-20465400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:20446000-20463400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:20446000-20464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:20446000-20464600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:20446200-20456000	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr2:20446200-20456600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:20446200-20459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:20446200-20463400	Strong transcription	Liver	Liver
36	chr2:20446200-20464600	Strong transcription	Placenta	Placenta
37	chr2:20446400-20456400	Strong transcription	NHDF-Ad	bronchial
38	chr2:20446400-20463400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:20446400-20463400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:20446400-20463800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:20446400-20473600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:20446600-20457400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:20446600-20460400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:20446600-20463600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:20446800-20456600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr2:20446800-20463600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:20446800-20463600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:20446800-20465400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:20447000-20455800	Strong transcription	Colonic Mucosa	Colon
50	chr2:20447000-20456000	Strong transcription	Adipose Nuclei	Adipose

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