Variant report

Variant	rs11024148
Chromosome Location	chr11:17096059-17096060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17094856..17097184-chr11:17228610..17231252,2	K562	blood:
2	chr11:17094939..17099575-chr11:17373026..17376765,6	K562	blood:
3	chr11:16847181..16850081-chr11:17095305..17097165,2	K562	blood:

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10766373	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10832728	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10832733	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10832734	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10832735	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832736	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832739	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832743	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832747	0.87[CEU][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap]
rs10832752	0.86[JPT][hapmap]
rs11024143	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024149	0.85[ASN][1000 genomes]
rs11024151	0.83[ASN][1000 genomes]
rs11024158	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024159	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11024163	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024204	0.94[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap]
rs11024223	0.86[JPT][hapmap]
rs11821773	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12280930	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12286505	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1236309	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12804000	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1685932	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17472886	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1989405	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2052188	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214092	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs214093	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs214097	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs214900	0.94[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.86[EUR][1000 genomes]
rs214901	0.94[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs214906	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs214909	0.80[EUR][1000 genomes]
rs214910	0.94[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes]
rs214914	0.91[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs214916	0.80[EUR][1000 genomes]
rs214918	0.80[EUR][1000 genomes]
rs214919	0.80[EUR][1000 genomes]
rs214920	0.80[EUR][1000 genomes]
rs214921	0.80[EUR][1000 genomes]
rs214922	0.80[EUR][1000 genomes]
rs214925	0.94[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes]
rs214926	0.80[EUR][1000 genomes]
rs214927	0.92[CEU][hapmap];0.92[YRI][hapmap]
rs214935	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs214936	0.94[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs214937	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs214939	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs214940	0.94[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34591697	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35933265	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4356203	0.89[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap]
rs511119	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs512852	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs527810	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs536628	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs545773	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs550667	0.96[CEU][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs553711	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs577207	0.86[EUR][1000 genomes]
rs589319	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs594034	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs598946	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs603618	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs615358	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs618331	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs620241	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs621246	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs635802	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6486352	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6486354	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs651513	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs656623	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs662711	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs667984	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs677540	0.94[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs680205	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7104247	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7106705	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7107283	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7107745	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7117166	0.85[ASN][1000 genomes]
rs7118006	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7123301	0.94[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7125607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342262	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap]
rs7396382	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7396958	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7478986	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7925692	0.83[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap]
rs7927240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7929927	0.90[CHB][hapmap]
rs7930058	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7932916	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7935219	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7937176	0.92[CEU][hapmap];0.96[YRI][hapmap]
rs7938820	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7939614	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7939750	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7946010	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7946165	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7949699	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9919540	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9919600	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11024148	SERGEF	cis	parietal	SCAN
rs11024148	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs11024148	NUCB2	cis	cerebellum	SCAN
rs11024148	GTF2H1	cis	cerebellum	SCAN
rs11024148	OR7E14P	cis	Esophagus Mucosa	GTEx
rs11024148	OR7E14P	cis	Nerve Tibial	GTEx
rs11024148	SPTY2D1	cis	parietal	SCAN
rs11024148	PDE3B	cis	parietal	SCAN
rs11024148	NUCB2	cis	lymphoblastoid	seeQTL
rs11024148	SAA4	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17069400-17096200	Weak transcription	Pancreas	Pancrea
2	chr11:17085400-17097200	Weak transcription	Right Ventricle	heart
3	chr11:17085400-17098200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:17087000-17098000	Weak transcription	Esophagus	oesophagus
5	chr11:17088600-17096400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:17089400-17097600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:17092200-17096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:17092200-17096400	Strong transcription	Fetal Brain Female	brain
9	chr11:17092200-17098200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:17092200-17098200	Weak transcription	Aorta	Aorta
11	chr11:17092600-17096200	Strong transcription	Placenta	Placenta
12	chr11:17092800-17096400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:17092800-17097600	Weak transcription	Colonic Mucosa	Colon
14	chr11:17093400-17097200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:17093600-17096200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:17093600-17096200	Weak transcription	Gastric	stomach
17	chr11:17093600-17096400	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:17093600-17097200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:17093600-17097200	Strong transcription	Fetal Stomach	stomach
20	chr11:17093800-17096400	Weak transcription	Small Intestine	intestine
21	chr11:17093800-17096600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr11:17093800-17097200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:17093800-17097600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:17094000-17096200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:17094000-17096400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:17094000-17096400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:17094000-17097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:17094200-17096600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:17094400-17096200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:17094400-17096200	Weak transcription	Thymus	Thymus
31	chr11:17094400-17096600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:17094400-17096600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:17094400-17097200	Strong transcription	Fetal Intestine Large	intestine
34	chr11:17094600-17096400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:17094600-17096400	Strong transcription	Primary B cells from cord blood	blood
36	chr11:17094600-17096400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:17094600-17096400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:17094600-17096400	Strong transcription	Dnd41	blood
39	chr11:17094600-17096400	Strong transcription	NHEK	skin
40	chr11:17094600-17096400	Strong transcription	Osteobl	bone
41	chr11:17094600-17096600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr11:17094600-17096600	Strong transcription	Adipose Nuclei	Adipose
43	chr11:17094600-17096600	Strong transcription	NH-A	brain
44	chr11:17094600-17096800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:17094600-17097000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:17094600-17097000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:17094600-17097200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:17094600-17097200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:17094600-17097200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:17094600-17097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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