Variant report

Variant	rs11024744
Chromosome Location	chr11:18656604-18656605
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	BACH1	chr11:18655719-18656779	K562	blood:	n/a	n/a
2	POLR2A	chr11:18654745-18656706	GM12878	blood:	n/a	n/a
3	MAX	chr11:18655688-18656702	A549	lung:	n/a	n/a
4	E2F6	chr11:18655753-18656624	K562	blood:	n/a	chr11:18655960-18655969 chr11:18656361-18656370 chr11:18655812-18655824
5	MAFK	chr11:18655743-18656757	K562	blood:	n/a	chr11:18656404-18656419 chr11:18655963-18655978
6	MXI1	chr11:18655560-18656643	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:18655488-18656691	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:18655493-18656679	PFSK-1	brain:	n/a	n/a
9	BHLHE40	chr11:18655684-18656816	GM12878	blood:	n/a	n/a
10	MAX	chr11:18655730-18656704	H1-hESC	embryonic stem cell:	n/a	n/a
11	CCNT2	chr11:18655746-18656660	K562	blood:	n/a	n/a
12	POLR2A	chr11:18655698-18656613	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr11:18655350-18656748	A549	lung:	n/a	chr11:18656004-18656011
14	MYC	chr11:18656193-18656636	K562	blood:	n/a	n/a
15	MXI1	chr11:18654762-18656649	GM12878	blood:	n/a	n/a
16	TBP	chr11:18655651-18656669	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:18655507-18656818	U87	brain:	n/a	n/a
18	TBP	chr11:18655689-18656731	Hela-S3	cervix:	n/a	n/a
19	RELA	chr11:18654734-18656621	GM19099	blood:	n/a	n/a
20	POLR2A	chr11:18654992-18656683	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:18655311-18656720	PBDE	blood:	n/a	n/a
22	MAX	chr11:18655683-18656811	MCF-7	breast:	n/a	n/a
23	EP300	chr11:18655524-18656621	GM12878	blood:	n/a	chr11:18656284-18656293 chr11:18655934-18655941 chr11:18655612-18655621
24	POLR2A	chr11:18654730-18656759	GM12892	blood:	n/a	n/a
25	POLR2A	chr11:18655554-18656610	Gliobla	brain:	n/a	n/a
26	POLR2A	chr11:18655593-18656624	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:18655642-18656814	K562	blood:	n/a	n/a
28	RFX5	chr11:18655692-18656618	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:18655581-18656741	HUVEC	blood vessel:	n/a	n/a
30	NR2F2	chr11:18655466-18656837	K562	blood:	n/a	n/a
31	MTA3	chr11:18654682-18656932	GM12878	blood:	n/a	n/a
32	E2F6	chr11:18655717-18656657	H1-hESC	embryonic stem cell:	n/a	chr11:18655960-18655969 chr11:18656361-18656370 chr11:18655812-18655824
33	FOXM1	chr11:18655642-18656718	GM12878	blood:	n/a	n/a
34	CHD2	chr11:18655601-18656655	Hela-S3	cervix:	n/a	chr11:18655958-18655968
35	POLR2A	chr11:18655548-18656671	GM12891	blood:	n/a	n/a
36	POLR2A	chr11:18655518-18656693	GM12892	blood:	n/a	n/a
37	MAX	chr11:18655705-18656799	H1-hESC	embryonic stem cell:	n/a	n/a
38	E2F6	chr11:18656319-18656656	K562	blood:	n/a	chr11:18656361-18656370
39	MYC	chr11:18655713-18656652	K562	blood:	n/a	n/a
40	POLR2A	chr11:18655656-18656664	K562	blood:	n/a	n/a
41	GABPA	chr11:18655501-18656738	SK-N-SH	brain:	n/a	chr11:18656360-18656371 chr11:18656030-18656037 chr11:18656357-18656371 chr11:18656360-18656369 chr11:18656360-18656374
42	POLR2A	chr11:18655562-18656724	HL-60	blood:	n/a	n/a
43	MAX	chr11:18655264-18656895	HCT-116	colon:	n/a	n/a
44	POLR2A	chr11:18655577-18656619	SK-N-MC	brain:	n/a	n/a
45	NFATC1	chr11:18656028-18656716	GM12878	blood:	n/a	n/a
46	HA-E2F1	chr11:18655580-18656746	MCF-7	breast:	n/a	chr11:18655960-18655969 chr11:18656361-18656370 chr11:18655812-18655824
47	TBP	chr11:18655650-18656670	GM12878	blood:	n/a	n/a
48	BHLHE40	chr11:18655720-18656754	K562	blood:	n/a	n/a
49	POLR2A	chr11:18654716-18656730	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:18655346-18656849	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:18655862..18656795-chr7:5569809..5570683,4	Hela-S3	cervix:
2	chr11:18415166..18418061-chr11:18653248..18658001,5	K562	blood:
3	chr11:18608840..18612225-chr11:18653403..18657833,8	MCF-7	breast:
4	chr11:18546581..18551368-chr11:18654825..18657467,6	K562	blood:
5	chr11:18546372..18549758-chr11:18653531..18658575,7	K562	blood:
6	chr11:18609259..18612621-chr11:18654534..18657923,6	MCF-7	breast:
7	chr11:18656195..18656698-chr8:42911083..42911641,2	HCT-116	colon:
8	chr11:18655737..18658361-chr11:18720798..18722992,3	MCF-7	breast:
9	chr11:18656015..18656646-chr6:136610447..136611108,2	Hela-S3	cervix:
10	chr11:18415280..18417349-chr11:18656133..18657834,2	MCF-7	breast:
11	chr11:18654961..18657619-chr8:56985621..56988332,2	K562	blood:
12	chr1:144533841..144534488-chr11:18655915..18656618,2	Hela-S3	cervix:
13	chr11:18656070..18656623-chrX:73834052..73834881,2	Hela-S3	cervix:

Variant related genes	Relation type
SPTY2D1	TF binding region
ENSG00000168522	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000029363	Chromatin interaction
ENSG00000238650	Chromatin interaction
ENSG00000253603	Chromatin interaction
ENSG00000151117	Chromatin interaction
ENSG00000131263	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000008988	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11024717	1.00[LWK][hapmap]
rs2132302	1.00[LWK][hapmap]
rs2166521	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers 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	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11024744	TSG101	cis	lymphoblastoid	seeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18654200-18657000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:18654400-18657000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:18654400-18657400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:18654600-18656800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:18654800-18656800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:18654800-18656800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:18654800-18656800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:18655000-18656800	Active TSS	Aorta	Aorta
9	chr11:18655000-18656800	Active TSS	Left Ventricle	heart
10	chr11:18655000-18656800	Active TSS	Ovary	ovary
11	chr11:18655000-18656800	Active TSS	Psoas Muscle	Psoas
12	chr11:18655000-18657000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:18655200-18656800	Active TSS	Right Ventricle	heart
14	chr11:18655400-18657000	Active TSS	Brain Anterior Caudate	brain
15	chr11:18655800-18656800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:18656200-18656800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:18656200-18656800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:18656200-18656800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:18656200-18656800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:18656200-18657000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:18656400-18656800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr11:18656400-18656800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:18656400-18656800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:18656400-18656800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr11:18656400-18656800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:18656400-18656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:18656400-18656800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:18656400-18656800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:18656400-18656800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr11:18656400-18656800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr11:18656400-18656800	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr11:18656400-18656800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr11:18656400-18656800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr11:18656400-18656800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr11:18656400-18656800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:18656400-18656800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr11:18656400-18656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:18656400-18656800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr11:18656400-18656800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:18656400-18656800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:18656400-18656800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:18656400-18656800	Flanking Active TSS	Liver	Liver
43	chr11:18656400-18656800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:18656400-18656800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr11:18656400-18656800	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr11:18656400-18656800	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr11:18656400-18656800	Flanking Active TSS	Fetal Kidney	kidney
48	chr11:18656400-18656800	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr11:18656400-18656800	Flanking Active TSS	Fetal Thymus	thymus
50	chr11:18656400-18656800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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