Variant report

Variant	rs653934
Chromosome Location	chr11:93517062-93517063
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	POLR2A	chr11:93517029-93518191	GM12892	blood:	n/a	n/a
2	MAX	chr11:93516973-93518180	MCF-7	breast:	n/a	n/a
3	STAT5A	chr11:93517027-93517820	GM12878	blood:	n/a	chr11:93517492-93517500
4	POLR2A	chr11:93517058-93517797	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:93516860-93518348	K562	blood:	n/a	n/a
6	E2F4	chr11:93517003-93518111	Hela-S3	cervix:	n/a	n/a
7	FOXM1	chr11:93516835-93518470	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:93516935-93518257	U87	brain:	n/a	n/a
9	REST	chr11:93517037-93517874	PFSK-1	brain:	n/a	chr11:93517505-93517518 chr11:93517512-93517520
10	POLR2A	chr11:93517033-93518134	GM12878	blood:	n/a	n/a
11	MAX	chr11:93516964-93518431	Hela-S3	cervix:	n/a	n/a
12	MAX	chr11:93517017-93518389	Hela-S3	cervix:	n/a	n/a
13	E2F6	chr11:93516921-93517962	H1-hESC	embryonic stem cell:	n/a	chr11:93517336-93517347
14	GABPA	chr11:93517050-93518109	Hela-S3	cervix:	n/a	chr11:93517434-93517448 chr11:93517437-93517451
15	POLR2A	chr11:93516791-93518400	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr11:93516848-93518476	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr11:93517000-93518254	SK-N-SH	brain:	n/a	n/a
18	MAX	chr11:93516956-93518212	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr11:93516990-93518162	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr11:93516984-93518365	GM18526	blood:	n/a	n/a
21	POLR2A	chr11:93516564-93518480	Raji	blood:	n/a	n/a
22	UBTF	chr11:93517047-93518144	K562	blood:	n/a	n/a
23	POLR2A	chr11:93517037-93517791	HepG2	liver:	n/a	n/a
24	E2F6	chr11:93516983-93517203	K562	blood:	n/a	n/a
25	POLR2A	chr11:93517026-93518133	HUVEC	blood vessel:	n/a	n/a
26	SMC3	chr11:93517022-93518425	Hela-S3	cervix:	n/a	chr11:93517342-93517356
27	TAF1	chr11:93516931-93518150	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr11:93516949-93517734	A549	lung:	n/a	chr11:93517434-93517448 chr11:93517437-93517451
29	TAF1	chr11:93517024-93518130	SK-N-SH	brain:	n/a	n/a
30	ZBTB33	chr11:93517044-93518231	SK-N-SH	brain:	n/a	n/a
31	MAX	chr11:93516932-93518237	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIN3AK20	chr11:93516917-93518379	SK-N-SH	brain:	n/a	n/a
33	MAX	chr11:93516905-93518354	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:93516689-93518364	GM19193	blood:	n/a	n/a
35	E2F4	chr11:93516987-93517568	MCF10A-Er-Src	breast:	n/a	n/a
36	TBP	chr11:93517025-93518376	GM12878	blood:	n/a	n/a
37	FOSL2	chr11:93517059-93517706	SK-N-SH	brain:	n/a	chr11:93517216-93517225
38	YY1	chr11:93516934-93517569	SK-N-SH_RA	brain:	n/a	n/a
39	POLR2A	chr11:93516941-93518255	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:93517059-93518116	HUVEC	blood vessel:	n/a	n/a
41	E2F1	chr11:93516957-93518095	Hela-S3	cervix:	n/a	chr11:93517116-93517127
42	YY1	chr11:93516998-93518421	GM12892	blood:	n/a	chr11:93517573-93517584
43	GABPA	chr11:93516978-93517703	MCF-7	breast:	n/a	chr11:93517434-93517448 chr11:93517437-93517451
44	POLR2A	chr11:93516999-93518203	GM15510	blood:	n/a	n/a
45	YY1	chr11:93516954-93518148	GM12878	blood:	n/a	chr11:93517573-93517584
46	HA-E2F1	chr11:93516801-93518268	MCF-7	breast:	n/a	chr11:93517116-93517127
47	POLR2A	chr11:93517025-93518179	Gliobla	brain:	n/a	n/a
48	POLR2A	chr11:93517033-93518280	HCT-116	colon:	n/a	n/a
49	EP300	chr11:93516976-93517885	SK-N-SH	brain:	n/a	chr11:93517659-93517675 chr11:93517373-93517380 chr11:93517218-93517227
50	PML	chr11:93516923-93518194	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93392460..93395279-chr11:93515167..93518670,4	K562	blood:
2	chr11:93517049..93517735-chr12:39836994..39837530,2	Hela-S3	cervix:
3	chr11:93516997..93517591-chr19:10828741..10829245,2	NB4	blood:
4	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
5	chr11:93468648..93476533-chr11:93513626..93520226,41	K562	blood:
6	chr11:93468490..93476714-chr11:93515963..93520210,25	MCF-7	breast:
7	chr11:93516885..93517418-chr12:7052863..7053759,2	Hela-S3	cervix:
8	chr11:93516606..93519025-chr11:93528430..93531862,4	MCF-7	breast:
9	chr11:93472800..93476056-chr11:93515203..93522725,16	MCF-7	breast:
10	chr11:93393142..93395279-chr11:93515864..93518097,3	K562	blood:
11	chr11:93516094..93517696-chr11:93525535..93527158,2	MCF-7	breast:
12	chr1:53662219..53662722-chr11:93516988..93517517,2	NB4	blood:
13	chr11:93516763..93517496-chr5:122110489..122111031,2	Hela-S3	cervix:
14	chr11:93459100..93466497-chr11:93514555..93520746,14	K562	blood:
15	chr11:93516890..93517521-chr13:111367237..111368055,2	NB4	blood:

Variant related genes	Relation type
MED17	TF binding region
ENSG00000207112	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000205302	Chromatin interaction
ENSG00000206799	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000238437	Chromatin interaction
ENSG00000079805	Chromatin interaction
ENSG00000239195	Chromatin interaction
ENSG00000207972	Chromatin interaction
ENSG00000207304	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000210825	Chromatin interaction
ENSG00000139116	Chromatin interaction
ENSG00000202314	Chromatin interaction
ENSG00000166004	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000207145	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000157184	Chromatin interaction
ENSG00000221170	Chromatin interaction
ENSG00000206834	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10741468	1.00[EUR][1000 genomes]
rs10765632	1.00[EUR][1000 genomes]
rs10831087	1.00[EUR][1000 genomes]
rs1939566	1.00[EUR][1000 genomes]
rs2434983	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2508574	1.00[EUR][1000 genomes]
rs4595504	1.00[EUR][1000 genomes]
rs584474	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs592526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs604414	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs607826	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs614003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs622231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs624883	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6483257	1.00[EUR][1000 genomes]
rs6483263	1.00[EUR][1000 genomes]
rs655208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs657177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs660297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs666470	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669937	1.00[EUR][1000 genomes]
rs683660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs694307	1.00[EUR][1000 genomes]
rs7123801	1.00[EUR][1000 genomes]
rs73561150	1.00[EUR][1000 genomes]
rs73561172	1.00[EUR][1000 genomes]
rs73563050	1.00[EUR][1000 genomes]
rs7939434	1.00[EUR][1000 genomes]
rs7940598	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93516600-93517200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:93516600-93517200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:93516600-93517200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:93516600-93517200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr11:93516600-93517200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr11:93516600-93517400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:93516600-93517600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:93516600-93517600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:93516600-93518200	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr11:93516600-93518200	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:93516600-93518400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr11:93516600-93518400	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr11:93516600-93518400	Active TSS	Osteobl	bone
14	chr11:93516600-93518600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:93516600-93518600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr11:93516600-93518600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:93516600-93518600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:93516600-93518600	Active TSS	Brain Anterior Caudate	brain
19	chr11:93516600-93518600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:93516600-93518600	Active TSS	Fetal Kidney	kidney
21	chr11:93516600-93518600	Active TSS	Small Intestine	intestine
22	chr11:93516600-93518800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:93516600-93518800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:93516600-93518800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:93516600-93518800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:93516600-93518800	Active TSS	Brain Angular Gyrus	brain
27	chr11:93516600-93518800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:93516600-93518800	Active TSS	NH-A	brain
29	chr11:93516600-93518800	Active TSS	NHLF	lung
30	chr11:93516600-93519000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:93516600-93519000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:93516600-93519200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr11:93516600-93519200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:93516600-93519400	Active TSS	HSMM	muscle
35	chr11:93516600-93519400	Active TSS	K562	blood
36	chr11:93516600-93519600	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr11:93516600-93519600	Active TSS	A549	lung
38	chr11:93516800-93517200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr11:93516800-93517200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr11:93516800-93517200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr11:93516800-93517200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr11:93516800-93517200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:93516800-93517200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr11:93516800-93517200	Flanking Active TSS	Liver	Liver
45	chr11:93516800-93517200	Flanking Active TSS	Placenta	Placenta
46	chr11:93516800-93517200	Flanking Active TSS	Fetal Thymus	thymus
47	chr11:93516800-93517200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr11:93516800-93517200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:93516800-93517400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr11:93516800-93517600	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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