Variant report

Variant	rs11228121
Chromosome Location	chr11:67783529-67783530
allele	A/C
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	MAX	chr11:67783460-67786676	A549	lung:	n/a	chr11:67784748-67784758
2	TCF12	chr11:67783390-67787243	A549	lung:	n/a	chr11:67786974-67786981 chr11:67786944-67786954
3	PBX3	chr11:67783504-67785430	A549	lung:	n/a	n/a
4	E2F6	chr11:67783520-67784803	A549	lung:	n/a	chr11:67784141-67784151
5	FOSL2	chr11:67783513-67785969	A549	lung:	n/a	n/a
6	POLR2A	chr11:67783462-67785903	U87	brain:	n/a	n/a
7	SIX5	chr11:67783330-67784018	A549	lung:	n/a	n/a
8	BCL3	chr11:67783431-67786996	A549	lung:	n/a	chr11:67786129-67786142 chr11:67786729-67786742 chr11:67785759-67785768 chr11:67784722-67784731 chr11:67785985-67785994
9	POLR2A	chr11:67783444-67785461	U87	brain:	n/a	n/a
10	SP1	chr11:67783520-67784912	A549	lung:	n/a	chr11:67784777-67784787 chr11:67784777-67784787
11	BCL3	chr11:67783438-67787248	A549	lung:	n/a	chr11:67786129-67786142 chr11:67786729-67786742 chr11:67785759-67785768 chr11:67784722-67784731 chr11:67785985-67785994

No.	Distal block	Cell Line	Cell type
1	chr11:67779784..67784526-chr11:67980026..67983056,5	MCF-7	breast:
2	chr11:67770338..67773597-chr11:67780108..67784129,5	K562	blood:
3	chr11:67783063..67785124-chr11:67886491..67888333,2	K562	blood:
4	chr11:67396956..67399904-chr11:67782060..67783739,2	K562	blood:
5	chr11:67780454..67783992-chr11:67785967..67788810,5	K562	blood:
6	chr11:67783191..67785391-chr11:67975759..67978285,2	K562	blood:

Variant related genes	Relation type
ALDH3B1	TF binding region
ENSG00000167799	Chromatin interaction
ENSG00000006534	Chromatin interaction
ENSG00000110057	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000110721	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11501420	1.00[AMR][1000 genomes]
rs11501421	1.00[AMR][1000 genomes]
rs12279292	1.00[AMR][1000 genomes]
rs12281209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286110	1.00[AFR][1000 genomes]
rs12290683	1.00[AMR][1000 genomes]
rs13377370	1.00[AMR][1000 genomes]
rs7114090	1.00[AMR][1000 genomes]
rs7128338	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
7	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
8	nsv428260	chr11:67524937-67797669	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
9	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
10	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
11	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv1038960	chr11:67727827-67785555	Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
13	nsv1047567	chr11:67747160-67819790	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
14	nsv8836	chr11:67752879-67819799	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
15	nsv897836	chr11:67757350-67816936	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
16	nsv897837	chr11:67757350-67821036	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
17	nsv897838	chr11:67757350-67833543	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
18	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
19	nsv1050471	chr11:67764068-67821610	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
20	nsv897839	chr11:67765056-67793014	Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
21	nsv468613	chr11:67765056-67794643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
22	nsv555277	chr11:67765056-67794643	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
23	nsv468614	chr11:67765056-67799926	ZNF genes & repeats Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
24	nsv897840	chr11:67765056-67804605	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
25	nsv468615	chr11:67765056-67816936	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
26	nsv555278	chr11:67765056-67816936	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
27	nsv897841	chr11:67765056-67816936	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
28	nsv469964	chr11:67765056-67821036	Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
29	nsv897842	chr11:67765056-67821036	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
30	nsv897843	chr11:67765056-67833543	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
31	nsv1046054	chr11:67768796-67819790	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
32	nsv897844	chr11:67772729-67793014	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
33	nsv897845	chr11:67774231-67821036	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
34	nsv897846	chr11:67776465-67794643	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
35	nsv897847	chr11:67776465-67804605	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67771600-67797600	Weak transcription	Small Intestine	intestine
2	chr11:67772600-67792400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:67778400-67787400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:67778600-67784000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:67778600-67784400	Weak transcription	Right Atrium	heart
6	chr11:67778600-67788000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:67778800-67784400	Weak transcription	Brain Angular Gyrus	brain
8	chr11:67779400-67784000	Weak transcription	Fetal Heart	heart
9	chr11:67779400-67784400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:67779600-67784400	Weak transcription	Liver	Liver
11	chr11:67779800-67785600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:67780200-67784200	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:67780200-67784600	Weak transcription	Right Ventricle	heart
14	chr11:67780400-67784200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:67781400-67783800	Enhancers	HepG2	liver
16	chr11:67781400-67786800	Enhancers	Esophagus	oesophagus
17	chr11:67781600-67784600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:67781800-67784400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:67782000-67784400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:67782000-67784400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:67782200-67784000	Weak transcription	Fetal Lung	lung
22	chr11:67782200-67784400	Weak transcription	Brain Anterior Caudate	brain
23	chr11:67782400-67783800	Weak transcription	Fetal Intestine Large	intestine
24	chr11:67782400-67783800	Strong transcription	Fetal Intestine Small	intestine
25	chr11:67782400-67784000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:67782400-67784200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:67782400-67784200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:67782400-67784400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:67782400-67784400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:67782400-67785200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:67782400-67785400	Flanking Active TSS	Hela-S3	cervix
32	chr11:67782400-67788200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr11:67782400-67791400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:67782400-67794800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:67782400-67794800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:67782400-67796800	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:67782600-67783800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:67782600-67784000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:67782600-67784000	Weak transcription	NHDF-Ad	bronchial
40	chr11:67782600-67784200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:67782600-67784200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:67782600-67784200	Weak transcription	Spleen	Spleen
43	chr11:67782600-67784200	Weak transcription	Osteobl	bone
44	chr11:67782600-67789000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:67782600-67791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:67782600-67791600	Weak transcription	Ovary	ovary
47	chr11:67782600-67791600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:67782600-67792200	Weak transcription	HSMMtube	muscle
49	chr11:67782600-67792600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:67782600-67794000	Weak transcription	NH-A	brain

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