Variant report

Variant	rs11068937
Chromosome Location	chr12:118857104-118857105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118834411..118836226-chr12:118855640..118858351,2	K562	blood:
2	chr12:118573808..118576071-chr12:118855410..118857691,2	K562	blood:

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10850968	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10850969	0.91[ASN][1000 genomes]
rs10850970	0.93[ASN][1000 genomes]
rs11068860	1.00[EUR][1000 genomes]
rs11068864	1.00[EUR][1000 genomes]
rs11068865	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068871	1.00[EUR][1000 genomes]
rs11068872	0.83[EUR][1000 genomes]
rs11068878	1.00[EUR][1000 genomes]
rs11068880	0.94[CHB][hapmap];1.00[EUR][1000 genomes]
rs11068881	1.00[EUR][1000 genomes]
rs11068883	0.85[AMR][1000 genomes]
rs11068887	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068888	1.00[EUR][1000 genomes]
rs11068889	1.00[EUR][1000 genomes]
rs11068891	0.88[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap]
rs11068893	0.94[CHB][hapmap];1.00[EUR][1000 genomes]
rs11068896	1.00[EUR][1000 genomes]
rs11068898	0.94[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[EUR][1000 genomes]
rs11068899	1.00[EUR][1000 genomes]
rs11068900	0.94[CHB][hapmap]
rs11068901	1.00[ASW][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11068904	0.88[CHB][hapmap];1.00[EUR][1000 genomes]
rs11068908	0.88[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap]
rs11068909	1.00[ASW][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11068914	0.83[EUR][1000 genomes]
rs11068915	0.94[CHB][hapmap];1.00[EUR][1000 genomes]
rs11068916	0.94[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs11068917	0.88[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap]
rs11068919	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs11068920	1.00[EUR][1000 genomes]
rs11068923	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11068924	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068930	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068933	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11068940	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068941	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068943	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12227411	0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12227974	0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12228425	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12230104	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12231358	1.00[EUR][1000 genomes]
rs12231845	1.00[EUR][1000 genomes]
rs16948250	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17586582	0.94[CHB][hapmap];1.00[EUR][1000 genomes]
rs17619702	0.93[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17619805	0.94[CHB][hapmap];1.00[EUR][1000 genomes]
rs17619932	0.88[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap]
rs2062520	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271007	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3741444	1.00[EUR][1000 genomes]
rs56080343	0.90[ASN][1000 genomes]
rs61943370	0.80[ASN][1000 genomes]
rs61943371	0.80[ASN][1000 genomes]
rs7132582	1.00[EUR][1000 genomes]
rs7296216	1.00[EUR][1000 genomes]
rs7974718	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs9888447	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][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	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	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11068937	SUDS3	cis	lymphoblastoid	seeQTL
rs11068937	EPCAM	trans	brain	seeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:118830800-118857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:118848800-118857400	Strong transcription	Duodenum Mucosa	Duodenum
5	chr12:118850400-118860400	Weak transcription	Fetal Brain Male	brain
6	chr12:118851400-118857200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:118852200-118860200	Weak transcription	NHDF-Ad	bronchial
8	chr12:118852600-118864600	Weak transcription	HSMMtube	muscle
9	chr12:118853200-118865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:118853400-118859800	Weak transcription	HepG2	liver
11	chr12:118853400-118867600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:118854000-118857400	Weak transcription	Fetal Kidney	kidney
13	chr12:118854000-118857600	Weak transcription	Fetal Brain Female	brain
14	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:118854200-118857800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:118854200-118858000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:118854200-118860200	Weak transcription	NH-A	brain
18	chr12:118854200-118864600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:118854400-118860200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:118854400-118867600	Weak transcription	Gastric	stomach
21	chr12:118854600-118859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:118854600-118864800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:118854600-118866800	Weak transcription	Aorta	Aorta
24	chr12:118854600-118867600	Weak transcription	Ovary	ovary
25	chr12:118854600-118870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:118854800-118857200	Weak transcription	Spleen	Spleen
28	chr12:118854800-118857600	Weak transcription	Brain Germinal Matrix	brain
29	chr12:118854800-118858000	Weak transcription	Thymus	Thymus
30	chr12:118854800-118858000	Weak transcription	HSMM	muscle
31	chr12:118854800-118858400	Weak transcription	GM12878-XiMat	blood
32	chr12:118854800-118859600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:118854800-118860000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:118854800-118860400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:118854800-118861600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:118854800-118865400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:118854800-118865400	Weak transcription	Primary B cells from cord blood	blood
38	chr12:118854800-118865600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:118854800-118867600	Weak transcription	Psoas Muscle	Psoas
40	chr12:118854800-118870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:118855000-118857400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:118855000-118857600	Weak transcription	Fetal Intestine Small	intestine
44	chr12:118855000-118858200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:118855000-118858200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:118855000-118858600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:118855000-118859200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:118855000-118859800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:118855000-118860600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:118855000-118860600	Weak transcription	Right Ventricle	heart

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