Variant report

Variant	rs4577347
Chromosome Location	chr20:1328230-1328231
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	chr20:1304588..1308027-chr20:1326737..1329803,3	K562	blood:

Variant related genes	Relation type
ENSG00000125775	Chromatin interaction
ENSG00000234684	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10485824	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11087048	1.00[ASN][1000 genomes]
rs11697322	1.00[CHB][hapmap]
rs11699494	1.00[CHB][hapmap]
rs13163	1.00[CHB][hapmap]
rs13433171	1.00[ASN][1000 genomes]
rs16994239	1.00[CHB][hapmap]
rs16994549	1.00[CHB][hapmap]
rs17793560	1.00[CHB][hapmap]
rs1883933	1.00[CHB][hapmap]
rs1884390	1.00[CHB][hapmap]
rs2064645	1.00[CHB][hapmap]
rs2064646	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2256095	1.00[CHB][hapmap]
rs2256229	1.00[CHB][hapmap]
rs2256240	1.00[CHB][hapmap]
rs2256243	1.00[CHB][hapmap]
rs2256250	1.00[CHB][hapmap]
rs2256251	1.00[CHB][hapmap]
rs2263656	1.00[CHB][hapmap]
rs2873522	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4813115	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4814102	1.00[CHB][hapmap]
rs56035174	1.00[ASN][1000 genomes]
rs57806058	1.00[ASN][1000 genomes]
rs59377624	1.00[ASN][1000 genomes]
rs59681252	1.00[ASN][1000 genomes]
rs6033534	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033554	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6033660	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033672	1.00[ASN][1000 genomes]
rs6033871	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6033896	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033914	1.00[CHB][hapmap]
rs6033935	1.00[CHB][hapmap]
rs6041382	1.00[ASN][1000 genomes]
rs6041689	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6041716	1.00[CHB][hapmap]
rs6041717	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6042000	1.00[ASN][1000 genomes]
rs6042506	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6042550	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042568	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6042574	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6042578	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042585	1.00[CHB][hapmap]
rs6042588	1.00[CHB][hapmap]
rs6042676	1.00[CHB][hapmap]
rs6042689	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6078575	1.00[CHB][hapmap]
rs6105031	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6105101	1.00[CHB][hapmap]
rs6109437	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs6109511	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6109522	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109740	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6109784	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109984	1.00[CHB][hapmap]
rs6109989	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6110189	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6110193	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs62187542	1.00[ASN][1000 genomes]
rs62187543	1.00[ASN][1000 genomes]
rs6514337	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6514364	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs715217	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7271240	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73067251	1.00[ASN][1000 genomes]
rs73069188	1.00[ASN][1000 genomes]
rs73076965	1.00[ASN][1000 genomes]
rs73076966	1.00[ASN][1000 genomes]
rs73579382	1.00[ASN][1000 genomes]
rs73581208	1.00[ASN][1000 genomes]
rs747611	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8117563	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8117744	1.00[ASN][1000 genomes]
rs8118276	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8119259	1.00[ASN][1000 genomes]
rs912113	1.00[CHB][hapmap]
rs958839	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4577347	PSMF1	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1307600-1340400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:1309800-1335400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr20:1310000-1348800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr20:1311600-1335200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr20:1315600-1329200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:1317600-1333800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr20:1317800-1335400	Weak transcription	Brain Anterior Caudate	brain
8	chr20:1318000-1331600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:1318000-1335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:1318000-1335000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:1318400-1335000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr20:1318400-1335000	Weak transcription	NHEK	skin
13	chr20:1318400-1335200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr20:1318800-1335000	Weak transcription	Gastric	stomach
15	chr20:1319200-1335000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr20:1319600-1335000	Weak transcription	Placenta	Placenta
17	chr20:1319800-1335000	Weak transcription	Right Ventricle	heart
18	chr20:1321600-1340400	Weak transcription	K562	blood
19	chr20:1322400-1335000	Weak transcription	Lung	lung
20	chr20:1322800-1335000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr20:1323000-1335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:1323000-1335000	Weak transcription	Ovary	ovary
23	chr20:1323000-1350600	Weak transcription	Fetal Brain Male	brain
24	chr20:1323200-1335200	Weak transcription	Brain Angular Gyrus	brain
25	chr20:1323200-1335200	Weak transcription	NHLF	lung
26	chr20:1323200-1335800	Weak transcription	HSMMtube	muscle
27	chr20:1323400-1335000	Weak transcription	Pancreas	Pancrea
28	chr20:1323400-1335400	Weak transcription	Spleen	Spleen
29	chr20:1323400-1354000	Weak transcription	Fetal Heart	heart
30	chr20:1323600-1335000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr20:1325800-1333600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:1325800-1334000	Weak transcription	Osteobl	bone
33	chr20:1326000-1332400	Weak transcription	A549	lung
34	chr20:1326000-1333600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:1326000-1335000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:1326000-1335000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr20:1326000-1335000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:1326000-1335200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr20:1326000-1340800	Weak transcription	NHDF-Ad	bronchial
40	chr20:1326000-1350600	Weak transcription	Right Atrium	heart
41	chr20:1326400-1332800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr20:1326400-1335000	Weak transcription	Thymus	Thymus
43	chr20:1326400-1335000	Weak transcription	HSMM	muscle
44	chr20:1326600-1335400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr20:1326800-1333800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr20:1326800-1348200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr20:1327200-1328400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:1327200-1328400	ZNF genes & repeats	HepG2	liver
49	chr20:1327200-1328600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:1327400-1329600	Weak transcription	Primary T cells from cord blood	blood

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