Variant report

Variant	rs567682478
Chromosome Location	chr11:59382003-59382004
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	JUN	chr11:59381794-59382073	HepG2	liver:	n/a	chr11:59381962-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59381962-59381972
2	USF2	chr11:59381860-59382827	Hela-S3	cervix:	n/a	n/a
3	MYC	chr11:59381773-59382836	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr11:59381763-59382100	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr11:59381776-59384318	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
6	POLR2A	chr11:59382002-59382340	K562	blood:	n/a	n/a
7	POLR2A	chr11:59381287-59384402	GM12891	blood:	n/a	n/a
8	JUN	chr11:59381851-59384464	K562	blood:	n/a	chr11:59382373-59382382 chr11:59381962-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59383442-59383451 chr11:59383245-59383254 chr11:59381962-59381972
9	MXI1	chr11:59381816-59382689	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:59381716-59384311	K562	blood:	n/a	n/a
11	GATA1	chr11:59381895-59382638	PBDE	blood:	n/a	chr11:59382207-59382228 chr11:59382547-59382557 chr11:59382547-59382554 chr11:59382212-59382221 chr11:59382214-59382221 chr11:59382212-59382222
12	MXI1	chr11:59381803-59384654	SK-N-SH	brain:	n/a	n/a
13	FOS	chr11:59381773-59382111	MCF10A-Er-Src	breast:	n/a	chr11:59381962-59381972 chr11:59381961-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59381962-59381972
14	POLR2A	chr11:59381764-59384454	HUVEC	blood vessel:	n/a	n/a
15	FOS	chr11:59381775-59382152	MCF10A-Er-Src	breast:	n/a	chr11:59381962-59381972 chr11:59381961-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59381962-59381972
16	MAX	chr11:59381891-59382486	K562	blood:	n/a	n/a
17	MXI1	chr11:59381976-59382359	K562	blood:	n/a	n/a
18	FOS	chr11:59381776-59382112	MCF10A-Er-Src	breast:	n/a	chr11:59381962-59381972 chr11:59381961-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59381962-59381972
19	FOS	chr11:59381823-59382236	HUVEC	blood vessel:	n/a	chr11:59381962-59381972 chr11:59381961-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59381962-59381972
20	FOS	chr11:59381782-59382122	MCF10A-Er-Src	breast:	n/a	chr11:59381962-59381972 chr11:59381961-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59381962-59381972
21	MAX	chr11:59381916-59384291	Hela-S3	cervix:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
22	JUND	chr11:59381827-59382116	HepG2	liver:	n/a	chr11:59381962-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59381961-59381972 chr11:59381962-59381972
23	POLR2A	chr11:59381964-59383509	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:59381479-59384345	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
2	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
3	chr11:59379146..59381021-chr11:59381463..59383297,2	MCF-7	breast:
4	chr11:59380994..59383091-chr11:59446545..59448432,2	K562	blood:
5	chr11:59373266..59379105-chr11:59379660..59383510,5	MCF-7	breast:
6	chr11:59379949..59382151-chr11:59418599..59421025,2	MCF-7	breast:
7	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
8	chr11:59369187..59371019-chr11:59381585..59383481,2	MCF-7	breast:
9	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:
10	chr11:59332034..59337600-chr11:59380778..59383923,5	K562	blood:
11	chr11:59381028..59383632-chr11:59387004..59389826,3	K562	blood:
12	chr11:59357778..59359857-chr11:59379899..59383236,3	K562	blood:
13	chr11:59322188..59323808-chr11:59380792..59382700,2	K562	blood:
14	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
15	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
16	chr11:59367491..59370423-chr11:59380896..59384148,4	K562	blood:
17	chr11:59379168..59382086-chr11:59390043..59391768,2	MCF-7	breast:
18	chr11:59327475..59330060-chr11:59381628..59383602,2	K562	blood:
19	chr11:59364283..59366462-chr11:59380493..59382759,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255139	TF binding region
ENSG00000255008	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000254477	Chromatin interaction
ENSG00000166900	Chromatin interaction
ENSG00000255139	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv1833978	chr11:59377543-59383631	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1842135	chr11:59377543-59383631	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3356175	chr11:59382001-59384549	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59376400-59382200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:59378800-59382200	Enhancers	Fetal Brain Male	brain
3	chr11:59379200-59382200	Enhancers	Small Intestine	intestine
4	chr11:59379400-59382200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:59380000-59382200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:59380000-59384400	Active TSS	Psoas Muscle	Psoas
7	chr11:59380600-59384400	Active TSS	Fetal Muscle Trunk	muscle
8	chr11:59380800-59382400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:59380800-59382600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:59381000-59382200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:59381200-59382200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:59381200-59382400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:59381200-59382400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:59381200-59382400	Flanking Active TSS	Fetal Brain Female	brain
15	chr11:59381200-59382400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:59381200-59382400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
17	chr11:59381200-59382600	Flanking Active TSS	Liver	Liver
18	chr11:59381200-59382600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:59381200-59382600	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr11:59381200-59382600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:59381200-59382800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:59381200-59382800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:59381400-59382200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr11:59381400-59382200	Flanking Active TSS	A549	lung
25	chr11:59381400-59382400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:59381400-59382400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr11:59381400-59382400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:59381400-59382400	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr11:59381400-59382400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr11:59381400-59382400	Flanking Active TSS	Fetal Lung	lung
31	chr11:59381400-59382400	Flanking Active TSS	Hela-S3	cervix
32	chr11:59381400-59382400	Flanking Active TSS	NHEK	skin
33	chr11:59381400-59382600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:59381400-59382600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr11:59381400-59382600	Flanking Active TSS	Dnd41	blood
36	chr11:59381400-59382600	Flanking Active TSS	HUVEC	blood vessel
37	chr11:59381400-59384400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:59381400-59384400	Active TSS	Aorta	Aorta
39	chr11:59381400-59384400	Active TSS	Ovary	ovary
40	chr11:59381400-59384600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:59381600-59382200	Enhancers	Spleen	Spleen
42	chr11:59381600-59382200	Flanking Active TSS	HepG2	liver
43	chr11:59381600-59382400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:59381600-59382400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:59381600-59382400	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr11:59381600-59382400	Flanking Active TSS	Thymus	Thymus
47	chr11:59381600-59382400	Flanking Active TSS	NH-A	brain
48	chr11:59381600-59382400	Flanking Active TSS	Osteobl	bone
49	chr11:59381600-59382600	Flanking Active TSS	Fetal Heart	heart
50	chr11:59381600-59382600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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