Variant report

Variant	rs4509755
Chromosome Location	chr11:9405882-9405883
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	CEBPB	chr11:9405714-9406290	K562	blood:	n/a	chr11:9405900-9405913 chr11:9405900-9405911
2	MAX	chr11:9405824-9407073	NB4	blood:	n/a	chr11:9406058-9406068 chr11:9406059-9406068 chr11:9406059-9406069 chr11:9406415-9406425 chr11:9406059-9406068 chr11:9406058-9406069 chr11:9406059-9406068
3	USF1	chr11:9405819-9406385	A549	lung:	n/a	chr11:9406057-9406068 chr11:9406215-9406231
4	POLR2A	chr11:9405708-9407491	PANC-1	pancreas:	n/a	n/a
5	USF1	chr11:9405825-9406287	A549	lung:	n/a	chr11:9406057-9406068 chr11:9406215-9406231
6	JUN	chr11:9405709-9407579	K562	blood:	n/a	chr11:9406652-9406661
7	MYBL2	chr11:9405815-9406991	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:9405746-9406232	K562	blood:	n/a	chr11:9405900-9405913 chr11:9405900-9405911
9	SETDB1	chr11:9405754-9406969	K562	blood:	n/a	chr11:9406086-9406110
10	ELF1	chr11:9405831-9406627	GM12878	blood:	n/a	chr11:9406220-9406232 chr11:9406469-9406478 chr11:9406412-9406424
11	CEBPB	chr11:9405780-9406057	HepG2	liver:	n/a	chr11:9405900-9405913 chr11:9405900-9405911
12	TBP	chr11:9405836-9406365	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:9405868-9407111	HL-60	blood:	n/a	n/a
14	USF1	chr11:9405722-9406346	K562	blood:	n/a	chr11:9406057-9406068 chr11:9406215-9406231
15	USF1	chr11:9405825-9406349	ECC-1	luminal epithelium:	n/a	chr11:9406057-9406068 chr11:9406215-9406231
16	USF1	chr11:9405779-9406483	A549	lung:	n/a	chr11:9406057-9406068 chr11:9406215-9406231
17	POLR2A	chr11:9405775-9407409	Hela-S3	cervix:	n/a	n/a
18	E2F6	chr11:9405882-9406727	A549	lung:	n/a	chr11:9406201-9406208 chr11:9406201-9406208 chr11:9406140-9406152 chr11:9406472-9406481 chr11:9406139-9406150 chr11:9406459-9406469 chr11:9406201-9406208 chr11:9406417-9406426
19	POLR2A	chr11:9405809-9407248	K562	blood:	n/a	n/a
20	GABPA	chr11:9405881-9406331	H1-hESC	embryonic stem cell:	n/a	n/a
21	ELF1	chr11:9405866-9406307	A549	lung:	n/a	chr11:9406220-9406232
22	MAX	chr11:9405779-9407137	SK-N-SH	brain:	n/a	chr11:9406058-9406068 chr11:9406059-9406068 chr11:9406059-9406069 chr11:9406415-9406425 chr11:9406059-9406068 chr11:9406058-9406069 chr11:9406059-9406068
23	POLR2A	chr11:9405824-9407317	HCT-116	colon:	n/a	n/a
24	POLR2A	chr11:9405858-9407191	GM12878	blood:	n/a	n/a
25	ETS1	chr11:9405838-9406390	GM12878	blood:	n/a	chr11:9406122-9406131 chr11:9406086-9406099
26	GABPA	chr11:9405808-9406752	K562	blood:	n/a	n/a
27	ETS1	chr11:9405821-9406411	GM12878	blood:	n/a	chr11:9406122-9406131 chr11:9406086-9406099
28	HEY1	chr11:9405856-9406413	HepG2	liver:	n/a	chr11:9406105-9406120
29	ATF2	chr11:9405798-9406452	GM12878	blood:	n/a	n/a
30	FOSL2	chr11:9405797-9406382	A549	lung:	n/a	n/a
31	ETS1	chr11:9405713-9406881	A549	lung:	n/a	chr11:9406122-9406131 chr11:9406086-9406099
32	GABPA	chr11:9405720-9406842	SK-N-SH	brain:	n/a	n/a
33	TCF7L2	chr11:9405787-9407255	Hela-S3	cervix:	n/a	chr11:9406938-9406945
34	CEBPB	chr11:9405768-9406244	A549	lung:	n/a	chr11:9405900-9405913 chr11:9405900-9405911
35	POLR2A	chr11:9405845-9407370	K562	blood:	n/a	n/a
36	YY1	chr11:9405853-9406323	SK-N-SH_RA	brain:	n/a	chr11:9406214-9406225
37	RCOR1	chr11:9405832-9407378	K562	blood:	n/a	n/a
38	USF2	chr11:9405877-9406239	K562	blood:	n/a	chr11:9406057-9406068 chr11:9406215-9406231
39	HEY1	chr11:9405866-9407398	K562	blood:	n/a	chr11:9406105-9406120
40	SIN3AK20	chr11:9405864-9406390	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr11:9405807-9407366	Hela-S3	cervix:	n/a	n/a
42	TEAD4	chr11:9405840-9407052	ECC-1	luminal epithelium:	n/a	n/a
43	TCF12	chr11:9405795-9406723	ECC-1	luminal epithelium:	n/a	chr11:9406259-9406267
44	ELF1	chr11:9405863-9406420	K562	blood:	n/a	chr11:9406220-9406232
45	TAF1	chr11:9405762-9406869	ECC-1	luminal epithelium:	n/a	n/a
46	MYC	chr11:9405863-9406883	H1-hESC	embryonic stem cell:	n/a	chr11:9406058-9406068 chr11:9406059-9406068 chr11:9406059-9406069 chr11:9406415-9406425 chr11:9406059-9406068 chr11:9406058-9406069 chr11:9406059-9406068
47	SIX5	chr11:9405805-9406375	GM12878	blood:	n/a	chr11:9406088-9406097 chr11:9406090-9406099
48	GATA3	chr11:9405770-9406744	A549	lung:	n/a	n/a
49	BCL3	chr11:9405716-9406510	A549	lung:	n/a	chr11:9406209-9406222
50	POLR2A	chr11:9405797-9406492	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9405090..9407610-chr11:9440133..9443604,3	MCF-7	breast:
2	chr11:9403958..9411793-chr11:9477944..9485616,22	K562	blood:
3	chr11:9334944..9338278-chr11:9404354..9407861,9	MCF-7	breast:
4	chr11:9023701..9026254-chr11:9404770..9407613,2	K562	blood:
5	chr11:9334169..9339249-chr11:9404487..9409469,24	K562	blood:
6	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
7	chr1:45987176..45987880-chr11:9405596..9406524,2	NB4	blood:
8	chr11:9328690..9334073-chr11:9404480..9408917,7	K562	blood:
9	chr1:211034100..211037099-chr11:9405144..9407454,2	MCF-7	breast:
10	chr11:9334942..9338160-chr11:9405201..9408296,5	MCF-7	breast:
11	chr1:211035595..211037101-chr11:9405067..9407537,2	K562	blood:
12	chr11:9335623..9336496-chr11:9405441..9406335,2	NB4	blood:
13	chr11:9405101..9410331-chr11:9478772..9485340,14	K562	blood:
14	chr11:9402784..9404391-chr11:9404476..9406126,2	K562	blood:

Variant related genes	Relation type
IPO7	TF binding region
ENSG00000253973	Chromatin interaction
ENSG00000254884	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000175352	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000224668	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7115556	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	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak 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 target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9386800-9406000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:9400800-9406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:9401200-9406000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:9405400-9406200	Enhancers	Fetal Heart	heart
5	chr11:9405400-9407000	Active TSS	Placenta	Placenta
6	chr11:9405400-9408200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:9405600-9406000	Enhancers	Left Ventricle	heart
8	chr11:9405600-9406800	Active TSS	Brain Anterior Caudate	brain
9	chr11:9405600-9406800	Active TSS	Duodenum Mucosa	Duodenum
10	chr11:9405600-9406800	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:9405600-9407400	Active TSS	Hela-S3	cervix
12	chr11:9405800-9406000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:9405800-9406000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:9405800-9406000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:9405800-9406000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:9405800-9406000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr11:9405800-9406000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr11:9405800-9406000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr11:9405800-9406000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr11:9405800-9406000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:9405800-9406000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:9405800-9406000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:9405800-9406000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:9405800-9406000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr11:9405800-9406000	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr11:9405800-9406000	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr11:9405800-9406000	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr11:9405800-9406000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr11:9405800-9406000	Enhancers	Thymus	Thymus
30	chr11:9405800-9406000	Flanking Active TSS	A549	lung
31	chr11:9405800-9406000	Flanking Active TSS	GM12878-XiMat	blood
32	chr11:9405800-9406000	Flanking Active TSS	HepG2	liver
33	chr11:9405800-9406000	Flanking Active TSS	NHEK	skin
34	chr11:9405800-9406200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr11:9405800-9406200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr11:9405800-9406200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:9405800-9406200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:9405800-9406200	Active TSS	Brain Germinal Matrix	brain
39	chr11:9405800-9406200	Flanking Active TSS	Dnd41	blood
40	chr11:9405800-9406400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr11:9405800-9406600	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:9405800-9406600	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:9405800-9406600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:9405800-9406600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:9405800-9406800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:9405800-9406800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr11:9405800-9406800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:9405800-9406800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr11:9405800-9406800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:9405800-9406800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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