Variant report

Variant	rs73505007
Chromosome Location	chr11:75276487-75276488
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	RXRA	chr11:75276290-75277032	SK-N-SH	brain:	n/a	chr11:75276745-75276754
2	POLR2A	chr11:75276454-75277153	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:75276145-75277005	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:75272700-75276641	IMR90	lung:	n/a	n/a
5	STAT3	chr11:75276450-75276650	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr11:75276243-75276929	HepG2	liver:	n/a	chr11:75276743-75276754 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
7	JUN	chr11:75276251-75276911	HUVEC	blood vessel:	n/a	chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
8	POLR2A	chr11:75272559-75277471	K562	blood:	n/a	n/a
9	TCF12	chr11:75276142-75276963	A549	lung:	n/a	chr11:75276370-75276377
10	ZNF263	chr11:75276274-75277006	HEK293-T-REx	kidney:	n/a	chr11:75276468-75276477
11	POLR2A	chr11:75276305-75276849	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:75276024-75277136	U87	brain:	n/a	n/a
13	POLR2A	chr11:75275964-75277066	HUVEC	blood vessel:	n/a	n/a
14	MAFK	chr11:75276462-75276631	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:75276351-75277049	SK-N-SH	brain:	n/a	n/a
16	MXI1	chr11:75272268-75277166	IMR90	lung:	n/a	n/a
17	FOS	chr11:75276120-75277040	HUVEC	blood vessel:	n/a	chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276743-75276754 chr11:75276744-75276754
18	POLR2A	chr11:75276436-75276752	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF12	chr11:75276151-75277127	SK-N-SH	brain:	n/a	chr11:75276370-75276377
20	JUN	chr11:75276376-75276828	HepG2	liver:	n/a	chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
21	POLR2A	chr11:75272117-75277825	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr11:75276261-75276890	H1-hESC	embryonic stem cell:	n/a	chr11:75276743-75276754 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
23	POLR2A	chr11:75276486-75276896	U87	brain:	n/a	n/a
24	FOSL2	chr11:75276294-75276890	A549	lung:	n/a	chr11:75276742-75276753 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
25	SP1	chr11:75276473-75277063	A549	lung:	n/a	chr11:75276783-75276792 chr11:75276781-75276793 chr11:75276783-75276792 chr11:75276782-75276791 chr11:75276778-75276792 chr11:75276781-75276793 chr11:75276782-75276792 chr11:75276782-75276792
26	JUND	chr11:75276257-75277082	SK-N-SH	brain:	n/a	chr11:75276743-75276754 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
27	POLR2A	chr11:75272289-75278216	SK-N-MC	brain:	n/a	n/a
28	JUND	chr11:75276280-75276811	K562	blood:	n/a	chr11:75276743-75276754 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
29	POLR2A	chr11:75273023-75278265	K562	blood:	n/a	n/a
30	POLR2A	chr11:75276486-75276860	U87	brain:	n/a	n/a
31	EP300	chr11:75276340-75276525	HepG2	liver:	n/a	n/a
32	FOS	chr11:75276446-75276905	MCF10A-Er-Src	breast:	n/a	chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276744-75276754 chr11:75276744-75276754 chr11:75276743-75276754 chr11:75276744-75276754
33	FOSL2	chr11:75276105-75277030	SK-N-SH	brain:	n/a	chr11:75276742-75276753 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
34	MAZ	chr11:75276065-75277624	IMR90	lung:	n/a	chr11:75276745-75276754
35	MAZ	chr11:75276273-75276839	HepG2	liver:	n/a	chr11:75276745-75276754
36	TEAD4	chr11:75276276-75276864	HepG2	liver:	n/a	n/a
37	JUND	chr11:75276142-75277020	SK-N-SH	brain:	n/a	chr11:75276743-75276754 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
38	POLR2A	chr11:75276163-75276890	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr11:75276018-75277119	U87	brain:	n/a	n/a
40	SIN3A	chr11:75276209-75276836	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:75275799-75276896	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr11:75276191-75277961	HepG2	liver:	n/a	n/a
43	FOSL2	chr11:75276131-75276911	A549	lung:	n/a	chr11:75276742-75276753 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
44	POLR2A	chr11:75272783-75277575	PFSK-1	brain:	n/a	n/a
45	FOSL2	chr11:75276187-75276958	HepG2	liver:	n/a	chr11:75276742-75276753 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276420-75276431 chr11:75276744-75276754 chr11:75276418-75276427 chr11:75276419-75276428 chr11:75276744-75276754 chr11:75276744-75276754
46	POLR2A	chr11:75272716-75277361	HUVEC	blood vessel:	n/a	n/a
47	BACH1	chr11:75276479-75276761	H1-hESC	embryonic stem cell:	n/a	n/a
48	FOSL2	chr11:75276482-75276994	HepG2	liver:	n/a	chr11:75276742-75276753 chr11:75276744-75276753 chr11:75276744-75276754 chr11:75276743-75276755 chr11:75276744-75276754 chr11:75276744-75276754 chr11:75276744-75276754
49	FOXP2	chr11:75276146-75276840	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75247004..75250213-chr11:75275515..75278123,3	MCF-7	breast:
2	chr11:75143358..75145748-chr11:75275231..75276876,2	MCF-7	breast:
3	chr11:75109346..75112415-chr11:75273833..75276890,5	K562	blood:
4	chr11:75274903..75276889-chr11:75523862..75525400,2	MCF-7	breast:

Variant related genes	Relation type
SERPINH1	TF binding region
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11236457	1.00[AFR][1000 genomes]
rs11236462	1.00[AMR][1000 genomes]
rs11236463	1.00[AMR][1000 genomes]
rs12274118	1.00[AMR][1000 genomes]
rs12275382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12978	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35618597	1.00[EUR][1000 genomes]
rs58440786	1.00[AMR][1000 genomes]
rs73504526	1.00[AMR][1000 genomes]
rs73505003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv525193	chr11:75276178-75287341	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' 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	chr11:75274000-75277000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:75274000-75277200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
3	chr11:75274000-75277600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
4	chr11:75274000-75277800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
5	chr11:75274000-75280200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:75274200-75278200	Transcr. at gene 5' and 3'	NHLF	lung
7	chr11:75274400-75278000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:75274600-75277000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:75274600-75277200	Flanking Active TSS	HUVEC	blood vessel
10	chr11:75274600-75278200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:75274600-75278800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:75274600-75286400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:75274600-75287000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:75274600-75287200	Weak transcription	Primary B cells from cord blood	blood
15	chr11:75274800-75276600	Weak transcription	Primary T cells from cord blood	blood
16	chr11:75274800-75277000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:75274800-75277200	Transcr. at gene 5' and 3'	Osteobl	bone
18	chr11:75274800-75277400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:75274800-75277400	Transcr. at gene 5' and 3'	Right Ventricle	heart
20	chr11:75274800-75286600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:75275000-75276800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:75275000-75277000	Weak transcription	Thymus	Thymus
23	chr11:75275000-75277200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:75275000-75279000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:75275000-75282600	Weak transcription	Fetal Brain Female	brain
26	chr11:75275000-75286800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:75275200-75276600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr11:75275200-75276600	Active TSS	Brain Hippocampus Middle	brain
29	chr11:75275200-75276600	Transcr. at gene 5' and 3'	Hela-S3	cervix
30	chr11:75275200-75276800	Enhancers	Psoas Muscle	Psoas
31	chr11:75275200-75277000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:75275200-75277000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:75275200-75277200	Enhancers	Liver	Liver
34	chr11:75275200-75277400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:75275200-75277400	Enhancers	Pancreas	Pancrea
36	chr11:75275200-75277800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:75275200-75285200	Weak transcription	Brain Germinal Matrix	brain
38	chr11:75275200-75293800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:75275400-75276600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:75275400-75276600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:75275400-75276800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:75275400-75276800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:75275400-75277200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:75275400-75277200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
45	chr11:75275400-75277200	Enhancers	Esophagus	oesophagus
46	chr11:75275400-75277200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr11:75275400-75277400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr11:75275400-75277600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:75275400-75279000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:75275400-75280000	Weak transcription	GM12878-XiMat	blood

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