Variant report

Variant	rs7125916
Chromosome Location	chr11:67785343-67785344
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	RCOR1	chr11:67784859-67785385	HepG2	liver:	n/a	n/a
2	EP300	chr11:67784132-67786005	A549	lung:	n/a	n/a
3	MYBL2	chr11:67784826-67785419	HepG2	liver:	n/a	n/a
4	MAX	chr11:67783460-67786676	A549	lung:	n/a	chr11:67784748-67784758
5	POLR2A	chr11:67785313-67786707	U87	brain:	n/a	n/a
6	REST	chr11:67785171-67786037	A549	lung:	n/a	n/a
7	ELF1	chr11:67784152-67786100	A549	lung:	n/a	n/a
8	TCF12	chr11:67783390-67787243	A549	lung:	n/a	chr11:67786974-67786981 chr11:67786944-67786954
9	POLR2A	chr11:67783663-67786839	Hela-S3	cervix:	n/a	n/a
10	MYBL2	chr11:67784118-67785417	HepG2	liver:	n/a	n/a
11	PBX3	chr11:67783504-67785430	A549	lung:	n/a	n/a
12	MAZ	chr11:67784974-67785389	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:67783586-67787104	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:67783686-67787044	PBDE	blood:	n/a	n/a
15	POLR2A	chr11:67783601-67787661	A549	lung:	n/a	n/a
16	FOSL2	chr11:67783513-67785969	A549	lung:	n/a	n/a
17	POLR2A	chr11:67785225-67785423	K562	blood:	n/a	n/a
18	POLR2A	chr11:67785224-67787166	HL-60	blood:	n/a	n/a
19	POLR2A	chr11:67783462-67785903	U87	brain:	n/a	n/a
20	JUND	chr11:67785304-67787237	A549	lung:	n/a	n/a
21	BCL3	chr11:67783431-67786996	A549	lung:	n/a	chr11:67786129-67786142 chr11:67786729-67786742 chr11:67785759-67785768 chr11:67784722-67784731 chr11:67785985-67785994
22	POLR2A	chr11:67783444-67785461	U87	brain:	n/a	n/a
23	FOXA1	chr11:67784991-67785358	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:67785332-67787278	A549	lung:	n/a	n/a
25	BCL3	chr11:67783438-67787248	A549	lung:	n/a	chr11:67786129-67786142 chr11:67786729-67786742 chr11:67785759-67785768 chr11:67784722-67784731 chr11:67785985-67785994
26	PBX3	chr11:67783539-67787018	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67784552..67785411-chr6:30293809..30294405,2	Hela-S3	cervix:
2	chr11:67783191..67785391-chr11:67975759..67978285,2	K562	blood:

Variant related genes	Relation type
ALDH3B1	TF binding region
ENSG00000204599	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000231074	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1636214	1.00[EUR][1000 genomes]
rs1703435	1.00[EUR][1000 genomes]
rs2286171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs308293	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs308297	1.00[EUR][1000 genomes]
rs308298	1.00[EUR][1000 genomes]
rs308333	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs308334	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs308335	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs308336	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs308337	0.88[ASN][1000 genomes]
rs308347	1.00[EUR][1000 genomes]
rs308348	1.00[EUR][1000 genomes]
rs308357	1.00[EUR][1000 genomes]
rs503039	1.00[EUR][1000 genomes]
rs557098	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59143115	1.00[EUR][1000 genomes]
rs6591325	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6591327	1.00[EUR][1000 genomes]
rs7117605	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7118342	1.00[EUR][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:83 , 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	chr11:67778600-67788000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:67779800-67785600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:67781400-67786800	Enhancers	Esophagus	oesophagus
7	chr11:67782400-67785400	Flanking Active TSS	Hela-S3	cervix
8	chr11:67782400-67788200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:67782400-67791400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:67782400-67794800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:67782400-67794800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:67782400-67796800	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:67782600-67789000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:67782600-67791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:67782600-67791600	Weak transcription	Ovary	ovary
16	chr11:67782600-67791600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:67782600-67792200	Weak transcription	HSMMtube	muscle
18	chr11:67782600-67792600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:67782600-67794000	Weak transcription	NH-A	brain
20	chr11:67782600-67797000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:67782800-67795800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:67782800-67797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:67783400-67786000	Enhancers	Adipose Nuclei	Adipose
24	chr11:67783600-67786200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:67783800-67785400	Enhancers	Placenta	Placenta
26	chr11:67783800-67785400	Flanking Active TSS	HepG2	liver
27	chr11:67783800-67785400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:67783800-67785600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:67783800-67786000	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:67783800-67788000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:67784000-67785800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:67784000-67785800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:67784000-67785800	Enhancers	Pancreas	Pancrea
34	chr11:67784000-67786000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:67784000-67786000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:67784000-67786200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:67784000-67789200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:67784200-67785600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:67784200-67785600	Enhancers	Brain Substantia Nigra	brain
40	chr11:67784200-67785800	Enhancers	Brain Hippocampus Middle	brain
41	chr11:67784200-67785800	Enhancers	Colonic Mucosa	Colon
42	chr11:67784200-67786000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:67784200-67786000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:67784200-67786000	Enhancers	Gastric	stomach
45	chr11:67784400-67785600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:67784400-67785600	Enhancers	Brain Anterior Caudate	brain
47	chr11:67784400-67785600	Enhancers	Brain Cingulate Gyrus	brain
48	chr11:67784400-67785800	Enhancers	Liver	Liver
49	chr11:67784400-67785800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:67784400-67786000	Enhancers	Brain Inferior Temporal Lobe	brain

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