Variant report

Variant	rs11169761
Chromosome Location	chr12:51595505-51595506
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	chr12:51589519..51591282-chr12:51594836..51596881,2	K562	blood:
2	chr12:51589519..51591324-chr12:51594836..51596847,2	K562	blood:

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10431487	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10735832	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783425	0.95[JPT][hapmap]
rs10876154	0.87[ASN][1000 genomes]
rs2067902	0.82[EUR][1000 genomes]
rs6421171	0.95[JPT][hapmap]
rs6580808	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6580809	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6580817	0.95[JPT][hapmap]
rs7305016	0.84[JPT][hapmap]
rs7398443	0.87[ASN][1000 genomes]
rs7975737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976292	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv558876	chr12:51591367-51612730	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11169761	SPATS2	cis	parietal	SCAN
rs11169761	LOC57228	cis	multi-tissue	Pritchard

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
3	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
6	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
9	chr12:51582000-51597000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:51582200-51608000	Weak transcription	NHLF	lung
11	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:51583400-51602400	Weak transcription	Fetal Brain Male	brain
14	chr12:51583600-51598400	Weak transcription	Osteobl	bone
15	chr12:51584000-51597000	Weak transcription	Left Ventricle	heart
16	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:51584600-51596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:51585000-51610200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:51585400-51610200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:51585800-51596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:51585800-51596800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:51585800-51601400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:51585800-51610400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:51586000-51610200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:51586400-51610200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:51587200-51596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:51590600-51597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:51590800-51610400	Weak transcription	HSMMtube	muscle
30	chr12:51591800-51597400	Weak transcription	Fetal Intestine Small	intestine
31	chr12:51592000-51596400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:51592200-51596600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:51592200-51597400	Weak transcription	Ovary	ovary
34	chr12:51592200-51602400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:51592400-51596400	Weak transcription	Brain Anterior Caudate	brain
36	chr12:51592400-51596800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:51592400-51597400	Weak transcription	Lung	lung
38	chr12:51592400-51599200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:51592400-51599200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:51592400-51610200	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:51592400-51610600	Weak transcription	Pancreas	Pancrea
42	chr12:51592400-51610800	Weak transcription	Esophagus	oesophagus
43	chr12:51592600-51595800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:51592600-51596600	Weak transcription	Brain Substantia Nigra	brain
45	chr12:51592600-51597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:51592800-51596800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:51592800-51610200	Weak transcription	Right Ventricle	heart
48	chr12:51592800-51610400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:51593000-51596800	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:51593000-51597600	Weak transcription	Gastric	stomach

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