Variant report

Variant	rs615155
Chromosome Location	chr11:63380972-63380973
allele	C/T
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	USF1	chr11:63380907-63381458	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr11:63380906-63381093	A549	lung:	n/a	n/a
3	FOSL2	chr11:63380870-63381295	A549	lung:	n/a	chr11:63381109-63381119 chr11:63381110-63381118 chr11:63381108-63381120
4	POLR2A	chr11:63380882-63382282	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr11:63380884-63382308	A549	lung:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
6	MXI1	chr11:63380458-63382278	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr11:63380960-63381110	AG04449	skin:	n/a	n/a
8	POLR2A	chr11:63380935-63381152	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF1	chr11:63380923-63381291	A549	lung:	n/a	n/a
10	USF1	chr11:63380919-63381321	SK-N-SH	brain:	n/a	n/a
11	SIN3AK20	chr11:63380935-63382173	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:63380965-63382269	GM19099	blood:	n/a	n/a
13	MAX	chr11:63380898-63382294	A549	lung:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
14	E2F6	chr11:63380932-63382264	H1-hESC	embryonic stem cell:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
15	USF2	chr11:63380922-63381581	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF1	chr11:63380920-63381250	A549	lung:	n/a	n/a
17	CTCF	chr11:63380960-63381110	HEK293	kidney:	n/a	n/a
18	ZBTB7A	chr11:63380953-63381528	K562	blood:	n/a	n/a
19	MAX	chr11:63380917-63382260	H1-hESC	embryonic stem cell:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
20	USF1	chr11:63380942-63381259	A549	lung:	n/a	n/a
21	SIN3A	chr11:63380925-63382049	H1-hESC	embryonic stem cell:	n/a	chr11:63381973-63381986
22	CTCF	chr11:63380940-63381090	HRE	kidney:	n/a	n/a
23	MAX	chr11:63380905-63382274	H1-hESC	embryonic stem cell:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
24	TCF12	chr11:63380946-63382296	A549	lung:	n/a	chr11:63381549-63381559 chr11:63381349-63381356
25	E2F6	chr11:63380914-63382294	H1-hESC	embryonic stem cell:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
26	USF1	chr11:63380913-63381351	A549	lung:	n/a	n/a
27	SIN3AK20	chr11:63380933-63382260	MCF-7	breast:	n/a	n/a
28	ATF3	chr11:63380962-63381280	H1-hESC	embryonic stem cell:	n/a	n/a
29	USF1	chr11:63380911-63381326	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:63380911-63381161	H1-hESC	embryonic stem cell:	n/a	n/a
31	ELF1	chr11:63380932-63382318	GM12878	blood:	n/a	chr11:63381954-63381963 chr11:63382027-63382039 chr11:63381997-63382009 chr11:63381983-63381995 chr11:63381913-63381925
32	USF1	chr11:63380918-63381293	SK-N-SH_RA	brain:	n/a	n/a
33	USF1	chr11:63380915-63381271	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63374913..63376548-chr11:63380673..63383197,2	K562	blood:

Variant related genes	Relation type
ENSG00000203520	TF binding region
PLA2G16	TF binding region
ENSG00000176485	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11826418	1.00[EUR][1000 genomes]
rs2030727	1.00[EUR][1000 genomes]
rs2030728	1.00[EUR][1000 genomes]
rs558768	1.00[EUR][1000 genomes]
rs592416	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs59485568	1.00[EUR][1000 genomes]
rs60027303	1.00[EUR][1000 genomes]
rs652233	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs663053	1.00[EUR][1000 genomes]
rs683904	1.00[EUR][1000 genomes]
rs684865	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7109362	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7935128	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	esv32927	chr11:63377277-63387923	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63356800-63381000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:63377800-63381000	Weak transcription	Esophagus	oesophagus
3	chr11:63378000-63381000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:63378400-63381000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:63378400-63381000	Weak transcription	Gastric	stomach
6	chr11:63378400-63381000	Weak transcription	Spleen	Spleen
7	chr11:63378400-63381000	Weak transcription	HMEC	breast
8	chr11:63378400-63382400	Active TSS	Brain Angular Gyrus	brain
9	chr11:63378400-63382400	Active TSS	Ovary	ovary
10	chr11:63378600-63381000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:63378600-63381000	Weak transcription	Stomach Mucosa	stomach
12	chr11:63379000-63382400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr11:63379000-63382400	Active TSS	Brain Substantia Nigra	brain
14	chr11:63379200-63381200	Weak transcription	HepG2	liver
15	chr11:63379400-63382200	Active TSS	Brain Cingulate Gyrus	brain
16	chr11:63379400-63382400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:63380000-63382200	Active TSS	Brain Anterior Caudate	brain
18	chr11:63380000-63382400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:63380200-63381400	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr11:63380200-63382200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:63380200-63382200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:63380200-63382400	Active TSS	Brain Hippocampus Middle	brain
23	chr11:63380200-63382400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:63380400-63381000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:63380400-63381000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:63380400-63381000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:63380400-63381000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:63380400-63381000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:63380400-63381000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr11:63380400-63381000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:63380400-63381000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:63380400-63381000	Active TSS	Colonic Mucosa	Colon
33	chr11:63380400-63381000	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr11:63380400-63381000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr11:63380400-63381000	Enhancers	GM12878-XiMat	blood
36	chr11:63380400-63381000	Enhancers	Hela-S3	cervix
37	chr11:63380400-63381000	Enhancers	K562	blood
38	chr11:63380400-63381000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr11:63380400-63381000	Enhancers	NH-A	brain
40	chr11:63380400-63381000	Enhancers	NHDF-Ad	bronchial
41	chr11:63380400-63381400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:63380400-63381400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:63380400-63381800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:63380400-63382000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr11:63380400-63382200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:63380400-63382400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr11:63380400-63382400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr11:63380400-63382400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:63380400-63382400	Active TSS	Aorta	Aorta
50	chr11:63380400-63382400	Active TSS	Duodenum Mucosa	Duodenum

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