Variant report

Variant	rs73529668
Chromosome Location	chr11:72408077-72408078
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72407965-72408871	K562	blood:	n/a	n/a
2	POLR2A	chr11:72407485-72408810	K562	blood:	n/a	n/a
3	ZBTB33	chr11:72407962-72408186	K562	blood:	n/a	n/a
4	POLR2A	chr11:72407847-72409567	K562	blood:	n/a	n/a
5	POLR2A	chr11:72407458-72408571	HL-60	blood:	n/a	n/a
6	HMGN3	chr11:72408024-72408537	K562	blood:	n/a	n/a
7	BHLHE40	chr11:72408068-72408270	K562	blood:	n/a	n/a
8	CBX3	chr11:72407961-72408334	K562	blood:	n/a	n/a
9	E2F6	chr11:72408016-72408302	K562	blood:	n/a	n/a
10	MAX	chr11:72407924-72408601	K562	blood:	n/a	n/a
11	POLR2A	chr11:72405719-72410547	GM12878	blood:	n/a	n/a
12	EGR1	chr11:72408072-72408305	K562	blood:	n/a	n/a
13	POLR2A	chr11:72407592-72408281	HepG2	liver:	n/a	n/a
14	NR2F2	chr11:72407962-72408508	K562	blood:	n/a	n/a
15	MAZ	chr11:72408069-72408550	K562	blood:	n/a	n/a
16	POLR2A	chr11:72407742-72408913	GM12878	blood:	n/a	n/a
17	MAX	chr11:72408022-72408243	K562	blood:	n/a	n/a
18	CCNT2	chr11:72408060-72408768	K562	blood:	n/a	chr11:72408333-72408342 chr11:72408247-72408256
19	POLR2A	chr11:72407946-72408236	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:72408074-72408550	K562	blood:	n/a	n/a
21	POLR2A	chr11:72408022-72408375	K562	blood:	n/a	n/a
22	POLR2A	chr11:72407702-72408279	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:72408045-72408410	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72407528..72410167-chr11:72410563..72412325,2	K562	blood:
2	chr11:72407553..72409836-chr11:72411461..72415120,3	MCF-7	breast:
3	chr11:72406657..72408586-chr11:72553691..72556576,2	MCF-7	breast:
4	chr11:72407255..72411434-chr11:72413782..72416688,5	K562	blood:
5	chr11:72406538..72408722-chr11:72523842..72525455,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARAP1	TF binding region
ARAP1-AS2	TF binding region
ENSG00000137478	Chromatin interaction
ENSG00000245148	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AMR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	1.00[AMR][1000 genomes]
rs371903	1.00[AMR][1000 genomes]
rs379276	1.00[AMR][1000 genomes]
rs379638	1.00[AMR][1000 genomes]
rs390130	1.00[AMR][1000 genomes]
rs392818	1.00[AMR][1000 genomes]
rs408269	1.00[AMR][1000 genomes]
rs414178	1.00[AMR][1000 genomes]
rs424234	1.00[AMR][1000 genomes]
rs452228	1.00[AMR][1000 genomes]
rs55816648	1.00[AMR][1000 genomes]
rs56251316	1.00[AMR][1000 genomes]
rs57512065	1.00[AMR][1000 genomes]
rs577536	1.00[AMR][1000 genomes]
rs58744558	1.00[AMR][1000 genomes]
rs59222962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59414438	1.00[AMR][1000 genomes]
rs61417743	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs644698	1.00[AMR][1000 genomes]
rs7108477	1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541179	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541198	1.00[AMR][1000 genomes]
rs73542594	1.00[AMR][1000 genomes]
rs73543236	1.00[AMR][1000 genomes]
rs73543237	1.00[AMR][1000 genomes]
rs73543245	1.00[AMR][1000 genomes]
rs73543251	1.00[AMR][1000 genomes]
rs73544388	1.00[AMR][1000 genomes]
rs73544400	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546230	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv555408	chr11:72405223-72441431	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv555409	chr11:72405450-72423385	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv468636	chr11:72405868-72431679	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv555410	chr11:72405868-72431679	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72393800-72413400	Strong transcription	Fetal Intestine Small	intestine
2	chr11:72393800-72423200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:72394000-72413800	Strong transcription	Fetal Intestine Large	intestine
4	chr11:72394000-72414600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:72394000-72426800	Strong transcription	Thymus	Thymus
6	chr11:72394200-72423600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:72394200-72425800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:72394200-72429000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:72394400-72412000	Strong transcription	GM12878-XiMat	blood
10	chr11:72394400-72423200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:72394400-72423800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr11:72394400-72424400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:72394600-72412800	Strong transcription	Gastric	stomach
14	chr11:72394600-72413200	Strong transcription	Lung	lung
15	chr11:72394600-72428800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:72394600-72429400	Strong transcription	Primary T cells from cord blood	blood
17	chr11:72394600-72430200	Strong transcription	Dnd41	blood
18	chr11:72395000-72408800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:72395000-72413600	Strong transcription	Fetal Brain Female	brain
20	chr11:72395000-72423800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr11:72395000-72429800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:72395200-72408400	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr11:72395200-72425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:72395200-72429000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:72395400-72414200	Strong transcription	Brain Angular Gyrus	brain
26	chr11:72395400-72414200	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr11:72395400-72414400	Strong transcription	Brain Germinal Matrix	brain
28	chr11:72395800-72414000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:72396000-72411000	Strong transcription	NHEK	skin
30	chr11:72396000-72413600	Strong transcription	Brain Cingulate Gyrus	brain
31	chr11:72396000-72413600	Strong transcription	Brain Hippocampus Middle	brain
32	chr11:72396000-72425600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:72396000-72426000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:72396200-72408400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:72396200-72411000	Strong transcription	HMEC	breast
36	chr11:72396200-72413200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:72396200-72423200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:72396400-72408400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:72396400-72411000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:72396400-72425400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:72397000-72423400	Strong transcription	Primary B cells from cord blood	blood
42	chr11:72397200-72408800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:72397200-72409800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:72397200-72414200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:72397400-72414000	Strong transcription	Brain Anterior Caudate	brain
46	chr11:72397800-72410800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:72397800-72414000	Strong transcription	Brain Substantia Nigra	brain
48	chr11:72397800-72425200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:72397800-72426000	Strong transcription	Fetal Thymus	thymus
50	chr11:72398000-72425200	Strong transcription	Primary T cells fromperipheralblood	blood

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