Variant report

Variant	rs805330
Chromosome Location	chr2:54148331-54148332
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54144663..54146823-chr2:54147898..54150124,2	K562	blood:
2	chr2:54146828..54149502-chr2:54150581..54153087,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10164409	0.86[EUR][1000 genomes]
rs10201364	0.82[AMR][1000 genomes]
rs11683654	0.86[CHB][hapmap]
rs13414393	0.81[CHD][hapmap];0.83[GIH][hapmap]
rs1363062	0.80[CHB][hapmap];0.86[GIH][hapmap]
rs1363063	0.86[CHB][hapmap]
rs1421617	0.93[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap]
rs17045439	0.85[JPT][hapmap]
rs2111868	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2302878	0.85[JPT][hapmap]
rs2542585	0.83[MEX][hapmap]
rs2884254	0.81[AMR][1000 genomes]
rs3821081	0.81[CEU][hapmap]
rs41385746	0.82[CHB][hapmap]
rs6545378	0.83[AMR][1000 genomes]
rs6749817	0.92[CHB][hapmap]
rs698858	0.83[AMR][1000 genomes]
rs718872	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7558126	0.80[CHB][hapmap]
rs7569214	0.81[ASW][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap]
rs7569370	0.93[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap]
rs7571086	0.80[AMR][1000 genomes]
rs805308	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs805309	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs805317	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805318	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805320	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805322	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805335	0.81[ASN][1000 genomes]
rs805341	0.93[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap]
rs805358	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805359	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805360	0.93[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs805361	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805366	0.82[AMR][1000 genomes]
rs805367	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs805373	0.81[ASW][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805374	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[MKK][hapmap];0.88[ASN][1000 genomes]
rs805375	0.93[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.89[ASN][1000 genomes]
rs805379	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs805380	0.90[ASN][1000 genomes]
rs805391	0.91[ASN][1000 genomes]
rs805392	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs805393	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs805402	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs805405	0.93[ASN][1000 genomes]
rs805410	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs805412	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805421	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs805422	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805423	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805424	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs805438	0.83[MEX][hapmap]
rs805439	0.83[MEX][hapmap]
rs805450	0.87[ASW][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs805453	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs809280	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs805330	PSME4	cis	cerebellum	SCAN
rs805330	ACYP2	cis	Muscle Skeletal	GTEx
rs805330	C2orf73	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
4	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:54124400-54159200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:54126200-54167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:54127000-54156000	Weak transcription	Pancreas	Pancrea
10	chr2:54129000-54157600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:54133000-54151800	Weak transcription	Psoas Muscle	Psoas
12	chr2:54133000-54153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:54133000-54157800	Weak transcription	Colonic Mucosa	Colon
14	chr2:54133200-54154800	Weak transcription	Aorta	Aorta
15	chr2:54133400-54150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:54133400-54151800	Weak transcription	Lung	lung
17	chr2:54133400-54154800	Weak transcription	Spleen	Spleen
18	chr2:54133600-54151800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:54133600-54152000	Weak transcription	Right Ventricle	heart
20	chr2:54135000-54149400	Weak transcription	NHLF	lung
21	chr2:54135600-54172200	Weak transcription	Fetal Heart	heart
22	chr2:54139200-54148400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:54139200-54176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:54139200-54177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:54139400-54153600	Weak transcription	Gastric	stomach
26	chr2:54139400-54158400	Strong transcription	A549	lung
27	chr2:54139400-54167200	Strong transcription	Liver	Liver
28	chr2:54139400-54167800	Strong transcription	Dnd41	blood
29	chr2:54139400-54176200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:54139600-54170800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:54139600-54177000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:54141200-54161400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:54141200-54166200	Strong transcription	Primary B cells from cord blood	blood
34	chr2:54141200-54167200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:54141400-54166600	Strong transcription	NH-A	brain
36	chr2:54141400-54167400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:54141400-54167600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:54141400-54170600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:54141600-54167000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:54141600-54167000	Strong transcription	Osteobl	bone
41	chr2:54142000-54165000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:54142000-54165600	Strong transcription	Adipose Nuclei	Adipose
43	chr2:54142000-54167200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:54142000-54167200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:54142200-54167200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:54142200-54167800	Strong transcription	HSMM	muscle
47	chr2:54142400-54166200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:54142400-54166600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:54142600-54153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:54142800-54151000	Strong transcription	Muscle Satellite Cultured Cells	--

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