Variant report

Variant	rs4294800
Chromosome Location	chr15:92460694-92460695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:92444403..92447778-chr15:92458135..92462014,3	MCF-7	breast:
2	chr15:92460023..92462750-chr15:92467605..92470507,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10775254	0.94[ASN][1000 genomes]
rs11074026	0.88[ASN][1000 genomes]
rs12591949	0.91[ASN][1000 genomes]
rs12594572	0.93[EUR][1000 genomes]
rs3924427	0.91[ASN][1000 genomes]
rs4077721	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.93[ASN][1000 genomes]
rs4244910	0.88[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs6496868	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6496870	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6496872	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6496873	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6496874	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6496875	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6496876	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6496877	0.81[JPT][hapmap]
rs6496878	0.81[JPT][hapmap]
rs7162293	0.94[ASN][1000 genomes]
rs7174549	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7179389	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7179958	0.81[JPT][hapmap]
rs7181500	0.81[ASN][1000 genomes]
rs7182106	0.94[ASN][1000 genomes]
rs8035875	0.94[ASN][1000 genomes]
rs8041346	0.91[ASN][1000 genomes]
rs9920349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4294800	FAM174B	cis	cerebellum	SCAN
rs4294800	SERPINB9	trans	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92445800-92462000	Weak transcription	Aorta	Aorta
2	chr15:92446000-92464200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:92446800-92462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:92446800-92465000	Weak transcription	Fetal Stomach	stomach
5	chr15:92448000-92460800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:92451800-92461000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:92451800-92461600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:92451800-92470200	Weak transcription	Small Intestine	intestine
9	chr15:92452000-92461200	Weak transcription	Osteobl	bone
10	chr15:92452000-92462400	Weak transcription	HMEC	breast
11	chr15:92452000-92465200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:92453400-92460800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:92453400-92466400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:92454200-92460800	Weak transcription	Adipose Nuclei	Adipose
15	chr15:92455800-92461400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:92455800-92462600	Weak transcription	Pancreas	Pancrea
17	chr15:92455800-92464200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:92457000-92460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:92457000-92465600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:92457200-92464800	Weak transcription	NHLF	lung
21	chr15:92457200-92467800	Weak transcription	Fetal Thymus	thymus
22	chr15:92457400-92462200	Weak transcription	Brain Anterior Caudate	brain
23	chr15:92457400-92462200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:92457400-92470000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:92457600-92460800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:92457600-92461800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:92457600-92463600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:92457600-92469600	Weak transcription	Hela-S3	cervix
29	chr15:92457800-92462000	Weak transcription	Psoas Muscle	Psoas
30	chr15:92458000-92462200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr15:92458000-92462600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr15:92458000-92464000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:92458400-92460800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:92458400-92461200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:92458400-92466400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:92458600-92461000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr15:92459000-92460800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:92459000-92460800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:92459000-92461000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:92459000-92461400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:92459000-92461800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:92459000-92462800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:92459000-92463400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:92459000-92467600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:92459200-92460800	Strong transcription	Spleen	Spleen
46	chr15:92459200-92461000	Strong transcription	Esophagus	oesophagus
47	chr15:92459200-92461800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:92459200-92462400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr15:92459400-92460800	Strong transcription	Left Ventricle	heart
50	chr15:92459400-92464000	Weak transcription	Rectal Mucosa Donor 31	rectum

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