Variant report

Variant	rs11226443
Chromosome Location	chr11:104480289-104480290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:104479937-104480304	H1-hESC	embryonic stem cell:	n/a	chr11:104480119-104480140 chr11:104480117-104480135
2	RAD21	chr11:104479854-104480330	HCT-116	colon:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
3	SMC3	chr11:104479966-104480289	GM12878	blood:	n/a	chr11:104480119-104480133
4	CTCF	chr11:104479910-104480390	GM12878	blood:	n/a	chr11:104480119-104480140 chr11:104480117-104480135
5	RAD21	chr11:104479978-104480357	A549	lung:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
6	RAD21	chr11:104479892-104480322	H1-hESC	embryonic stem cell:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
7	CTCF	chr11:104479905-104480347	IMR90	lung:	n/a	chr11:104480119-104480140 chr11:104480117-104480135
8	RAD21	chr11:104479841-104480433	SK-N-SH_RA	brain:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
9	CTCF	chr11:104479893-104480300	T-47D	breast:	n/a	chr11:104480119-104480140 chr11:104480117-104480135
10	RAD21	chr11:104479895-104480389	A549	lung:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
11	RAD21	chr11:104479851-104480371	H1-hESC	embryonic stem cell:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
12	RAD21	chr11:104479964-104480418	MCF-7	breast:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
13	RAD21	chr11:104479870-104480420	ECC-1	luminal epithelium:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
14	RAD21	chr11:104479852-104480403	HCT-116	colon:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
15	YY1	chr11:104479917-104480322	SK-N-SH_RA	brain:	n/a	n/a
16	RAD21	chr11:104479883-104480396	ECC-1	luminal epithelium:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
17	CTCF	chr11:104479922-104480310	H1-hESC	embryonic stem cell:	n/a	chr11:104480119-104480140 chr11:104480117-104480135
18	RAD21	chr11:104479966-104480301	HepG2	liver:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
19	CTCF	chr11:104480180-104480330	A549	lung:	n/a	n/a
20	RAD21	chr11:104479919-104480413	H1-hESC	embryonic stem cell:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
21	SMC3	chr11:104479742-104480848	SK-N-SH	brain:	n/a	chr11:104480119-104480133
22	RAD21	chr11:104479899-104480352	IMR90	lung:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
23	RAD21	chr11:104479872-104480325	HepG2	liver:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
24	CTCF	chr11:104479769-104480344	A549	lung:	n/a	chr11:104480119-104480140 chr11:104480117-104480135
25	SMC3	chr11:104479929-104480448	Hela-S3	cervix:	n/a	chr11:104480119-104480133
26	CTCF	chr11:104479564-104480688	SK-N-SH	brain:	n/a	chr11:104480119-104480140 chr11:104480117-104480135
27	CTCF	chr11:104479897-104480316	HCT-116	colon:	n/a	chr11:104480119-104480140 chr11:104480117-104480135
28	MYC	chr11:104479984-104480295	MCF10A-Er-Src	breast:	n/a	n/a
29	RAD21	chr11:104479701-104481071	SK-N-SH	brain:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
30	RAD21	chr11:104479959-104480299	GM12878	blood:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
31	RAD21	chr11:104479893-104480396	SK-N-SH_RA	brain:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
32	MAX	chr11:104479912-104480360	NB4	blood:	n/a	n/a
33	RAD21	chr11:104479825-104480359	Hela-S3	cervix:	n/a	chr11:104480123-104480135 chr11:104480118-104480137
34	CTCF	chr11:104480280-104480430	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000256422	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10502036	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10502037	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10502041	0.94[EUR][1000 genomes]
rs10791717	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791719	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791720	0.83[EUR][1000 genomes]
rs10895705	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10895706	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10895707	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10895708	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10895711	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895712	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10895713	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10895714	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10895715	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10895719	0.94[EUR][1000 genomes]
rs10895721	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11226426	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11226428	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11226430	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11226431	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11226433	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11226439	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11226441	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11226442	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11226445	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11226448	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11226450	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11226451	0.83[EUR][1000 genomes]
rs11226452	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11226456	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11226457	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11226459	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11226460	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11226469	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11226486	0.86[EUR][1000 genomes]
rs1147010	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1147024	0.87[EUR][1000 genomes]
rs11601632	0.83[EUR][1000 genomes]
rs11607612	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1200613	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1201816	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12286808	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12361024	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12364844	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12365448	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12366152	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12418899	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12799900	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12803385	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12803710	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1586464	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16894	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17102731	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17102776	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1893461	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1942502	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942507	0.94[EUR][1000 genomes]
rs1942520	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1942521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2156127	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2187131	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2187132	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2187135	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2226749	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2850817	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34526738	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34793132	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35510904	0.81[ASN][1000 genomes]
rs55779335	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56384112	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59832858	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61893183	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61893194	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61893228	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61893229	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7119997	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs722354	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7927206	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7935104	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7939905	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9666573	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9667051	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043976	chr11:103881236-104526403	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv898353	chr11:104274535-104497607	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1054278	chr11:104317164-104562129	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1053886	chr11:104328822-104562129	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1037091	chr11:104330237-104559477	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv556216	chr11:104333651-104560789	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1048500	chr11:104348766-104548809	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv832254	chr11:104412769-104607277	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11226443	CASP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104479800-104480800	Enhancers	Brain Substantia Nigra	brain
2	chr11:104479800-104481000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:104479800-104481000	Enhancers	Brain Hippocampus Middle	brain
4	chr11:104479800-104481000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr11:104479800-104481000	Enhancers	Fetal Brain Female	brain
6	chr11:104480000-104480400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:104480000-104480400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:104480000-104480400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:104480000-104480600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:104480000-104480600	Enhancers	Fetal Heart	heart
11	chr11:104480000-104480800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:104480000-104480800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr11:104480000-104480800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:104480000-104480800	Enhancers	Dnd41	blood
15	chr11:104480000-104481000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:104480000-104481000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr11:104480000-104481000	Enhancers	Fetal Lung	lung
18	chr11:104480000-104481000	Enhancers	HUVEC	blood vessel
19	chr11:104480000-104481200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:104480000-104481200	Enhancers	Adipose Nuclei	Adipose
21	chr11:104480000-104481200	Enhancers	Aorta	Aorta
22	chr11:104480000-104481200	Enhancers	Brain Angular Gyrus	brain
23	chr11:104480000-104481200	Enhancers	Fetal Kidney	kidney
24	chr11:104480000-104481200	Enhancers	Fetal Muscle Leg	muscle
25	chr11:104480200-104480400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:104480200-104480400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:104480200-104480600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:104480200-104480600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:104480200-104480600	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:104480200-104480600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:104480200-104480600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:104480200-104480600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:104480200-104480600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:104480200-104480600	Enhancers	Brain Anterior Caudate	brain
35	chr11:104480200-104480600	Enhancers	Duodenum Mucosa	Duodenum
36	chr11:104480200-104480600	Enhancers	NHLF	lung
37	chr11:104480200-104480800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:104480200-104480800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:104480200-104480800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:104480200-104480800	Enhancers	Rectal Smooth Muscle	rectum
41	chr11:104480200-104481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:104480200-104481000	Enhancers	Primary T cells from cord blood	blood
43	chr11:104480200-104481000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:104480200-104481000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:104480200-104481000	Enhancers	Stomach Smooth Muscle	stomach
46	chr11:104480200-104481200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:104480200-104481200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:104480200-104481200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:104480200-104481200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:104480200-104481200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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