Variant report

Variant	rs11182250
Chromosome Location	chr12:44147174-44147175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44146753..44148774-chr12:44151171..44153252,2	K562	blood:
2	chr12:44145866..44148336-chr12:44151544..44154381,4	MCF-7	breast:
3	chr12:44143073..44149154-chr12:44149201..44155670,10	K562	blood:

Variant related genes	Relation type
ENSG00000129317	Chromatin interaction
ENSG00000198001	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1057190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880552	0.86[EUR][1000 genomes]
rs10880553	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10880554	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs10880555	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs10880556	0.86[EUR][1000 genomes]
rs10880557	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880558	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880559	0.88[AMR][1000 genomes]
rs10880562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182244	1.00[CEU][hapmap]
rs11182246	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182249	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12301506	0.97[ASN][1000 genomes]
rs12302873	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12308611	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310585	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315211	0.82[CHB][hapmap]
rs12319024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251463	0.85[AMR][1000 genomes]
rs4251465	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251466	0.81[AMR][1000 genomes]
rs4251489	0.85[AMR][1000 genomes]
rs4251496	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251497	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251527	1.00[CEU][hapmap]
rs4251532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251540	1.00[CEU][hapmap]
rs4251555	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7311465	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954870	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7956245	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7969729	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9849	0.99[AFR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11182250	PUS7L	cis	Esophagus Muscularis	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44117400-44151400	Weak transcription	Brain Substantia Nigra	brain
2	chr12:44120000-44151600	Weak transcription	Gastric	stomach
3	chr12:44120200-44151600	Weak transcription	Lung	lung
4	chr12:44122000-44147400	Weak transcription	Psoas Muscle	Psoas
5	chr12:44122600-44147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:44122600-44152000	Weak transcription	Left Ventricle	heart
7	chr12:44122800-44151000	Weak transcription	Fetal Brain Male	brain
8	chr12:44123400-44151600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:44123600-44151400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:44125000-44151400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:44125000-44151400	Weak transcription	HUVEC	blood vessel
12	chr12:44126200-44150400	Weak transcription	Small Intestine	intestine
13	chr12:44126400-44151600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:44126400-44151600	Weak transcription	Colonic Mucosa	Colon
15	chr12:44126400-44151600	Weak transcription	Right Ventricle	heart
16	chr12:44126600-44147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:44127200-44151600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:44128600-44151600	Weak transcription	Spleen	Spleen
19	chr12:44128800-44151400	Weak transcription	Brain Angular Gyrus	brain
20	chr12:44130400-44150200	Weak transcription	Stomach Mucosa	stomach
21	chr12:44130600-44151000	Weak transcription	Pancreas	Pancrea
22	chr12:44130600-44151400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:44130600-44151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:44130600-44151600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:44130600-44151800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:44130800-44147800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:44131000-44151400	Weak transcription	Hela-S3	cervix
28	chr12:44131000-44151600	Weak transcription	Thymus	Thymus
29	chr12:44131800-44147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:44132600-44151400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:44133200-44151600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:44135000-44151400	Weak transcription	Fetal Stomach	stomach
33	chr12:44136400-44151400	Weak transcription	Fetal Heart	heart
34	chr12:44136400-44151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:44137000-44151600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:44137000-44151600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:44137200-44151400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:44139400-44147200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:44139400-44151600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:44139600-44147400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:44139600-44147400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:44139600-44148000	Weak transcription	Fetal Lung	lung
43	chr12:44139600-44150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:44139600-44151200	Weak transcription	NHLF	lung
45	chr12:44139600-44151400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:44139600-44151400	Weak transcription	Fetal Intestine Large	intestine
47	chr12:44139600-44151400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:44139600-44151600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:44139600-44151600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:44139600-44151600	Weak transcription	Placenta	Placenta

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