Variant report

Variant	rs2278887
Chromosome Location	chr15:40847008-40847009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40845102..40847771-chr15:40879538..40882866,3	K562	blood:
2	chr15:40838014..40841452-chr15:40845857..40849279,3	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10444792	0.96[ASN][1000 genomes]
rs10518696	0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs10851397	0.85[ASN][1000 genomes]
rs11070276	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs11070278	0.94[ASN][1000 genomes]
rs11632319	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12442697	0.88[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs12916218	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1453182	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1530942	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1530943	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16970854	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1869303	0.86[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap]
rs2014367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2034653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2278889	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2290379	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2304579	0.82[GIH][hapmap];0.89[JPT][hapmap]
rs2412530	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2412533	0.96[ASN][1000 genomes]
rs2924389	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2959535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3803354	0.88[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4467046	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4561439	0.92[ASN][1000 genomes]
rs4923877	0.88[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4923878	0.88[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs4923879	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4924482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4924483	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs582736	0.87[GIH][hapmap]
rs611933	0.94[GIH][hapmap]
rs624486	0.94[GIH][hapmap]
rs6492952	0.98[ASN][1000 genomes]
rs6492953	0.82[ASN][1000 genomes]
rs6492955	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs667623	0.94[GIH][hapmap];0.88[JPT][hapmap]
rs7163648	0.87[ASN][1000 genomes]
rs7163889	0.92[ASN][1000 genomes]
rs7164056	0.87[ASN][1000 genomes]
rs7164166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7164405	0.92[ASN][1000 genomes]
rs7167239	0.84[ASN][1000 genomes]
rs7167922	0.85[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs7168913	0.90[ASN][1000 genomes]
rs7170327	0.85[ASN][1000 genomes]
rs7170946	0.94[ASN][1000 genomes]
rs8024579	0.88[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8024802	0.88[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8029208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8032453	0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs8034726	0.86[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs8040187	0.86[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap]
rs8041816	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8041991	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs896797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs921624	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs976402	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40821400-40848000	Weak transcription	Brain Anterior Caudate	brain
2	chr15:40821800-40856400	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:40822600-40856400	Weak transcription	Small Intestine	intestine
4	chr15:40828000-40856600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:40831600-40856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:40838000-40848200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:40838000-40856400	Weak transcription	A549	lung
8	chr15:40838600-40852800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:40838600-40855600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:40839000-40847200	Weak transcription	Brain Angular Gyrus	brain
11	chr15:40839200-40848600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:40839200-40849000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:40839200-40849000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:40839200-40849600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:40839200-40850000	Strong transcription	Fetal Thymus	thymus
16	chr15:40839400-40847800	Weak transcription	HUVEC	blood vessel
17	chr15:40839400-40849600	Strong transcription	HMEC	breast
18	chr15:40839400-40850000	Strong transcription	Fetal Intestine Large	intestine
19	chr15:40839600-40847600	Weak transcription	NHDF-Ad	bronchial
20	chr15:40839600-40849800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:40839800-40848200	Weak transcription	HepG2	liver
22	chr15:40840000-40848000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:40840000-40856400	Weak transcription	Fetal Brain Female	brain
24	chr15:40840000-40856600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:40840400-40847600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:40840400-40850600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:40840600-40848800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:40841200-40847800	Weak transcription	NH-A	brain
29	chr15:40842000-40849800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:40842000-40849800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr15:40842000-40849800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:40842400-40847800	Weak transcription	Brain Substantia Nigra	brain
33	chr15:40842400-40849000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:40842400-40856200	Weak transcription	Colonic Mucosa	Colon
35	chr15:40842600-40849400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:40843000-40848200	Weak transcription	Esophagus	oesophagus
37	chr15:40843200-40848200	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:40843200-40848800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr15:40843200-40856400	Weak transcription	Fetal Heart	heart
40	chr15:40843600-40849600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:40843600-40850000	Strong transcription	Osteobl	bone
42	chr15:40843800-40849000	Strong transcription	Liver	Liver
43	chr15:40843800-40850000	Strong transcription	Placenta	Placenta
44	chr15:40843800-40856400	Weak transcription	HSMMtube	muscle
45	chr15:40844200-40847800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr15:40844800-40849400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr15:40845000-40848000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr15:40845000-40849600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:40845000-40849600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr15:40845000-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood

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