Variant report

Variant	rs5752949
Chromosome Location	chr22:30053963-30053964
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	chr22:30047107..30049570-chr22:30052178..30054357,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12053771	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55646014	0.87[ASN][1000 genomes]
rs56274114	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5752951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752952	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763340	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5763373	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs5763382	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763425	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763430	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58417572	0.85[ASN][1000 genomes]
rs73881591	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5752949	C3orf57	trans	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30014400-30085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30018000-30069200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:30020200-30057000	Weak transcription	Psoas Muscle	Psoas
4	chr22:30020200-30064200	Weak transcription	Small Intestine	intestine
5	chr22:30020800-30097000	Weak transcription	Stomach Mucosa	stomach
6	chr22:30026800-30055800	Weak transcription	Gastric	stomach
7	chr22:30027600-30057200	Weak transcription	Brain Hippocampus Middle	brain
8	chr22:30027800-30056000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr22:30032200-30057000	Weak transcription	Colonic Mucosa	Colon
10	chr22:30032200-30070000	Weak transcription	Fetal Brain Male	brain
11	chr22:30034400-30060400	Weak transcription	K562	blood
12	chr22:30035400-30060800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr22:30035600-30057200	Weak transcription	Placenta	Placenta
14	chr22:30037200-30064200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:30038200-30057000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:30038400-30055800	Weak transcription	Fetal Kidney	kidney
17	chr22:30038400-30060600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:30038800-30057000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr22:30038800-30069800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr22:30039000-30054000	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:30039000-30054600	Weak transcription	Aorta	Aorta
22	chr22:30039000-30054800	Weak transcription	NHLF	lung
23	chr22:30039000-30068000	Weak transcription	Hela-S3	cervix
24	chr22:30039200-30056200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr22:30041800-30054000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr22:30042200-30057200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr22:30043800-30064000	Weak transcription	Fetal Heart	heart
28	chr22:30044800-30058200	Weak transcription	Right Ventricle	heart
29	chr22:30044800-30059600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr22:30045000-30060600	Weak transcription	Brain Substantia Nigra	brain
31	chr22:30045600-30054000	Weak transcription	Pancreas	Pancrea
32	chr22:30047400-30055000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:30047400-30056200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:30047800-30057600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:30048000-30064000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:30048000-30064200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:30048200-30054800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:30048200-30057200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr22:30049600-30061000	Strong transcription	Dnd41	blood
40	chr22:30049600-30062000	Strong transcription	HSMM	muscle
41	chr22:30049800-30057400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:30050000-30054600	Strong transcription	HMEC	breast
43	chr22:30050000-30056600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr22:30050000-30062400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr22:30050200-30061800	Strong transcription	Primary T cells from cord blood	blood
46	chr22:30050200-30075000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr22:30050200-30084800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr22:30050400-30054400	Strong transcription	HUVEC	blood vessel
49	chr22:30050400-30054600	Strong transcription	NHEK	skin
50	chr22:30050400-30057000	Strong transcription	Osteobl	bone

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