Variant report

Variant	rs11603212
Chromosome Location	chr11:63927810-63927811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63924134..63929191-chr11:63930561..63934852,10	K562	blood:
2	chr11:63927314..63929406-chr11:63949302..63951130,2	K562	blood:
3	chr11:63927314..63929406-chr11:63948232..63951130,3	K562	blood:

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1058735	0.86[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs1059440	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231701	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11600867	1.00[JPT][hapmap]
rs11601024	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11601577	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602181	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11603042	0.88[CHB][hapmap]
rs11605738	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap]
rs11606544	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11607007	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs11607144	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11607165	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418035	0.84[CEU][hapmap];0.80[CHD][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12574258	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12575642	1.00[ASW][hapmap];0.86[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12787852	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12794145	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs12797120	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12798333	0.80[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs12802950	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2001003	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap]
rs2015226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2070765	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs2154986	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2282490	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2286614	1.00[ASW][hapmap]
rs2875749	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34089806	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34113693	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34838337	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35090903	0.90[EUR][1000 genomes]
rs35095324	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35458188	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35524387	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35858916	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3802933	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3824854	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58632573	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs604203	0.81[CHB][hapmap]
rs6591837	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66648159	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67546972	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7102327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112277	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7130030	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71479474	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72918475	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72920332	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7939784	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7944061	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7952318	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs882146	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
8	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
12	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
13	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
15	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11603212	GPHA2	cis	cerebellum	SCAN
rs11603212	FKBP2	cis	parietal	SCAN
rs11603212	PPP1R14B	cis	multi-tissue	Pritchard
rs11603212	PRDX5	cis	parietal	SCAN
rs11603212	FAU	cis	parietal	SCAN
rs11603212	FAM89B	cis	parietal	SCAN
rs11603212	PPP1R14B	cis	Heart Left Ventricle	GTEx
rs11603212	TRPT1	cis	Muscle Skeletal	GTEx
rs11603212	CD248	cis	parietal	SCAN
rs11603212	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL
rs11603212	SLC22A10	cis	parietal	SCAN
rs11603212	ASRGL1	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63900200-63931800	Weak transcription	Lung	lung
2	chr11:63911600-63932600	Weak transcription	Primary T cells from cord blood	blood
3	chr11:63916200-63932000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:63916400-63932000	Weak transcription	Stomach Mucosa	stomach
5	chr11:63916600-63932200	Weak transcription	Fetal Intestine Large	intestine
6	chr11:63918200-63932200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:63918600-63931800	Weak transcription	Gastric	stomach
8	chr11:63919000-63932000	Weak transcription	Adipose Nuclei	Adipose
9	chr11:63919200-63928800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:63920200-63931800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:63920600-63928600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:63920600-63928800	Weak transcription	Aorta	Aorta
13	chr11:63920600-63931800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:63920600-63931800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:63920600-63932200	Weak transcription	Brain Substantia Nigra	brain
16	chr11:63920600-63932200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:63920600-63932400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:63920600-63932400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:63920800-63931800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:63920800-63931800	Weak transcription	Liver	Liver
21	chr11:63920800-63931800	Weak transcription	Colonic Mucosa	Colon
22	chr11:63920800-63932000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:63921000-63931600	Weak transcription	Dnd41	blood
24	chr11:63921000-63931800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:63921000-63932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:63921000-63932200	Weak transcription	Small Intestine	intestine
27	chr11:63921000-63932400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:63921000-63932400	Weak transcription	A549	lung
29	chr11:63921400-63932200	Weak transcription	Esophagus	oesophagus
30	chr11:63921600-63929600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:63921800-63932000	Weak transcription	Ovary	ovary
32	chr11:63921800-63932200	Weak transcription	K562	blood
33	chr11:63922000-63931800	Weak transcription	Brain Germinal Matrix	brain
34	chr11:63922000-63932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:63922000-63932200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:63922200-63932200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:63922600-63930400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:63924200-63932000	Weak transcription	HSMMtube	muscle
39	chr11:63924400-63930800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:63924400-63931600	Weak transcription	Spleen	Spleen
41	chr11:63924400-63931800	Weak transcription	Pancreas	Pancrea
42	chr11:63924400-63932200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:63924400-63932200	Weak transcription	Fetal Stomach	stomach
44	chr11:63924400-63932400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:63924800-63932200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:63925000-63932800	Weak transcription	Thymus	Thymus
47	chr11:63925400-63931200	Weak transcription	HepG2	liver
48	chr11:63925600-63930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:63925600-63931400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:63925600-63932200	Weak transcription	Fetal Heart	heart

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