Variant report

Variant	rs403565
Chromosome Location	chr5:16585331-16585332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16577162..16580474-chr5:16583638..16586521,3	MCF-7	breast:
2	chr5:16577676..16580941-chr5:16582189..16586155,5	K562	blood:
3	chr5:16577676..16580941-chr5:16584093..16586155,5	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs173972	0.91[CEU][hapmap]
rs17541267	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2447809	0.93[CEU][hapmap]
rs2447810	0.93[CEU][hapmap];0.82[MEX][hapmap]
rs2447812	0.91[CEU][hapmap]
rs2447813	0.93[CEU][hapmap]
rs2447816	0.93[CEU][hapmap]
rs2447818	0.93[CEU][hapmap]
rs2451848	0.93[CEU][hapmap]
rs2451849	0.93[CEU][hapmap]
rs2451850	0.93[CEU][hapmap];0.82[MEX][hapmap]
rs2451852	0.93[CEU][hapmap];0.82[MEX][hapmap]
rs2451855	0.93[CEU][hapmap];0.82[MEX][hapmap]
rs2451856	0.82[CEU][hapmap]
rs2560824	1.00[EUR][1000 genomes]
rs2560825	0.93[CEU][hapmap]
rs2592038	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2617419	0.93[CEU][hapmap]
rs2927607	0.93[CEU][hapmap]
rs431154	0.93[CEU][hapmap];0.82[MEX][hapmap]
rs433758	0.92[LWK][hapmap]
rs448021	0.93[CEU][hapmap];0.82[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs403565	FAM134B	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16543200-16591600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:16543600-16589800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:16571400-16587200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:16571400-16588200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:16574800-16589800	Weak transcription	Thymus	Thymus
6	chr5:16575000-16588000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:16575200-16585800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:16575600-16591600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:16575800-16587600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:16576000-16587200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:16578400-16606800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:16579200-16586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:16579400-16593200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:16579600-16585400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:16581000-16598400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:16581200-16588600	Weak transcription	Fetal Heart	heart
17	chr5:16581400-16585400	Weak transcription	Brain Anterior Caudate	brain
18	chr5:16581400-16587000	Weak transcription	Primary T cells from cord blood	blood
19	chr5:16581400-16593200	Weak transcription	Right Ventricle	heart
20	chr5:16581400-16596000	Weak transcription	Fetal Brain Female	brain
21	chr5:16581600-16585600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:16581600-16585800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:16581800-16585400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:16581800-16585400	Weak transcription	Brain Angular Gyrus	brain
25	chr5:16583200-16585600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:16583200-16586000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:16583400-16591400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:16583400-16599600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:16583800-16585800	Enhancers	Brain Substantia Nigra	brain
30	chr5:16584000-16585800	Weak transcription	GM12878-XiMat	blood
31	chr5:16584200-16586000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:16584400-16591200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:16584400-16592400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:16585200-16585600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:16585200-16585600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:16585200-16585600	Enhancers	Liver	Liver
37	chr5:16585200-16585600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr5:16585200-16585600	Enhancers	Duodenum Mucosa	Duodenum
39	chr5:16585200-16585600	Enhancers	Fetal Intestine Small	intestine
40	chr5:16585200-16585600	Enhancers	Gastric	stomach
41	chr5:16585200-16585600	Enhancers	Pancreas	Pancrea
42	chr5:16585200-16585600	Enhancers	Psoas Muscle	Psoas
43	chr5:16585200-16585600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:16585200-16585600	Enhancers	Right Atrium	heart
45	chr5:16585200-16585600	Enhancers	Hela-S3	cervix
46	chr5:16585200-16585600	Enhancers	HepG2	liver
47	chr5:16585200-16585600	Enhancers	K562	blood
48	chr5:16585200-16585800	Enhancers	Placenta	Placenta
49	chr5:16585200-16585800	Enhancers	Lung	lung
50	chr5:16585200-16586000	Enhancers	Left Ventricle	heart

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