Variant report

Variant	rs11068890
Chromosome Location	chr12:118694832-118694833
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118694521..118696349-chr12:118811517..118814148,3	K562	blood:

Variant related genes	Relation type
ENSG00000270482	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11068849	1.00[EUR][1000 genomes]
rs11068869	1.00[EUR][1000 genomes]
rs11068875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068877	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068882	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068894	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068895	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834503	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834916	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11835933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296292	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300544	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305529	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311104	1.00[EUR][1000 genomes]
rs12314138	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315982	1.00[TSI][hapmap]
rs12318403	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12319261	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320014	1.00[ASW][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap]
rs12321640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35214062	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6490174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7137739	0.85[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs7296214	1.00[TSI][hapmap]
rs7306323	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7308927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313514	1.00[TSI][hapmap]
rs7956203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7959442	0.88[LWK][hapmap]
rs7974361	0.85[MKK][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic 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	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11068890	SUDS3	cis	lymphoblastoid	seeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
2	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
6	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
7	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
8	chr12:118652200-118727800	Weak transcription	NHLF	lung
9	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:118669000-118725200	Weak transcription	K562	blood
13	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
14	chr12:118673200-118698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
17	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
18	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
21	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:118674000-118700800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
25	chr12:118674000-118726200	Weak transcription	Lung	lung
26	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:118676200-118707400	Weak transcription	HSMM	muscle
28	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:118677000-118695400	Weak transcription	HMEC	breast
32	chr12:118677000-118708000	Weak transcription	NHEK	skin
33	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:118680200-118696000	Weak transcription	HUVEC	blood vessel
36	chr12:118682400-118699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:118683200-118699600	Weak transcription	Fetal Intestine Small	intestine
38	chr12:118683400-118699200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:118685600-118699400	Weak transcription	Ovary	ovary
41	chr12:118687600-118697000	Weak transcription	Small Intestine	intestine
42	chr12:118688200-118696200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:118691000-118702800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:118691800-118696400	Strong transcription	Primary B cells from cord blood	blood
45	chr12:118692000-118695600	Strong transcription	Dnd41	blood
46	chr12:118692400-118696000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
48	chr12:118693400-118697000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:118693400-118697400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:118693400-118698800	Weak transcription	Duodenum Mucosa	Duodenum

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