Variant report

Variant	rs568506471
Chromosome Location	chr11:9596477-9596478
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr11:9596146-9597164	SH-SY5Y	brain:	n/a	chr11:9596756-9596763
2	UBTF	chr11:9594411-9597195	K562	blood:	n/a	n/a
3	GATA3	chr11:9596058-9597422	A549	lung:	n/a	chr11:9596756-9596763
4	POLR2A	chr11:9596366-9597642	HepG2	liver:	n/a	n/a
5	TAF1	chr11:9596051-9597153	K562	blood:	n/a	n/a
6	MAX	chr11:9594224-9596603	GM12878	blood:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
7	RCOR1	chr11:9596245-9597188	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:9596331-9596790	GM12891	blood:	n/a	n/a
9	POLR2A	chr11:9596462-9597237	U87	brain:	n/a	n/a
10	POLR2A	chr11:9596095-9597598	HepG2	liver:	n/a	n/a
11	TAF7	chr11:9594545-9597218	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr11:9596147-9597012	NB4	blood:	n/a	n/a
13	POLR2A	chr11:9596389-9597140	K562	blood:	n/a	n/a
14	POLR2A	chr11:9596116-9597149	HepG2	liver:	n/a	n/a
15	USF2	chr11:9596309-9597078	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr11:9593222-9598393	SK-N-SH	brain:	n/a	n/a
17	TBP	chr11:9596424-9597484	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL3	chr11:9596374-9597175	A549	lung:	n/a	chr11:9596468-9596481
19	POLR2A	chr11:9595813-9597130	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:9594287-9597716	PBDE	blood:	n/a	n/a
21	SIN3AK20	chr11:9596381-9597171	PFSK-1	brain:	n/a	n/a
22	TCF12	chr11:9596060-9597442	A549	lung:	n/a	n/a
23	POLR2A	chr11:9593829-9601404	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:9596428-9597254	SK-N-SH	brain:	n/a	n/a
25	HEY1	chr11:9596431-9597239	HepG2	liver:	n/a	n/a
26	PML	chr11:9596220-9597243	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:9596461-9597077	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:9593092-9599445	IMR90	lung:	n/a	n/a
29	MXI1	chr11:9595986-9596655	HepG2	liver:	n/a	n/a
30	ZNF263	chr11:9595069-9597666	HEK293-T-REx	kidney:	n/a	chr11:9597038-9597047
31	POLR2A	chr11:9596237-9596682	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:9596130-9596719	ECC-1	luminal epithelium:	n/a	n/a
33	SIN3AK20	chr11:9593713-9597257	PANC-1	pancreas:	n/a	n/a
34	PML	chr11:9596399-9597198	K562	blood:	n/a	n/a
35	UBTF	chr11:9594271-9597345	K562	blood:	n/a	n/a
36	POLR2A	chr11:9596045-9597812	PANC-1	pancreas:	n/a	n/a
37	BHLHE40	chr11:9596321-9596648	GM12878	blood:	n/a	n/a
38	SIN3AK20	chr11:9596088-9596750	SK-N-SH	brain:	n/a	n/a
39	CCNT2	chr11:9594469-9596913	K562	blood:	n/a	n/a
40	POLR2A	chr11:9594243-9596697	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr11:9595974-9597858	Hela-S3	cervix:	n/a	n/a
42	RCOR1	chr11:9596387-9596675	K562	blood:	n/a	n/a
43	POLR2A	chr11:9594379-9596736	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr11:9594220-9597525	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:9594275-9597204	GM12892	blood:	n/a	n/a
46	MXI1	chr11:9596220-9597383	Hela-S3	cervix:	n/a	n/a
47	TEAD4	chr11:9596221-9597471	K562	blood:	n/a	n/a
48	STAT5A	chr11:9596218-9597116	GM12878	blood:	n/a	n/a
49	MYC	chr11:9596036-9596639	MCF10A-Er-Src	breast:	n/a	n/a
50	MAX	chr11:9594229-9597239	Hela-S3	cervix:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9596475-9596525	AG04449	skin:	fetal
2	chr11:9596475-9596525	Hela-S3	cervix:	n/a
3	chr11:9596475-9596525	NH-A	brain:	n/a
4	chr11:9596475-9596525	AG04450	lung:	fetal
5	chr11:9596475-9596525	AG09309	skin:	n/a
6	chr11:9596475-9596525	HRPEpiC	eye:	n/a
7	chr11:9596475-9596525	HNPCEpiC	eye:	n/a
8	chr11:9596475-9596525	GM12878	blood:	n/a
9	chr11:9596475-9596525	Hepatocyte	liver:	n/a
10	chr11:9596475-9596525	HCT-116	colon:	n/a
11	chr11:9596475-9596525	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:9596475-9596525	HRCEpiC	kidney:	n/a
13	chr11:9596475-9596525	AoSMC	blood vessel:	n/a
14	chr11:9596475-9596525	MCF-7	breast:	n/a
15	chr11:9596475-9596525	GM12891	blood:	n/a
16	chr11:9596475-9596525	BE2_C	brain:	n/a
17	chr11:9596475-9596525	PANC-1	pancreas:	n/a
18	chr11:9596475-9596525	HCPEpiC	choroid plexus:	n/a
19	chr11:9596475-9596525	SK-N-SH_RA	brain:	n/a
20	chr11:9596475-9596525	NT2-D1	testis:	n/a
21	chr11:9596475-9596525	MCF10A-Er-Src	breast:	n/a
22	chr11:9596475-9596525	AG10803	skin:	n/a
23	chr11:9596475-9596525	HIPEpiC	eye:	n/a
24	chr11:9596475-9596525	NB4	blood:	n/a
25	chr11:9596475-9596525	HUVEC	blood vessel:	n/a
26	chr11:9596475-9596525	HepG2	liver:	n/a
27	chr11:9596475-9596525	BJ	skin:	n/a
28	chr11:9596475-9596525	PFSK-1	brain:	n/a
29	chr11:9596475-9596525	CMK	blood:	n/a
30	chr11:9596475-9596525	HMEC	breast:	n/a
31	chr11:9596475-9596525	AG09319	gingival:	n/a
32	chr11:9596475-9596525	HAEpiC	amniotic membrane:	n/a
33	chr11:9596475-9596525	ECC-1	luminal epithelium:	n/a
34	chr11:9596475-9596525	HEK293	kidney:	embryo
35	chr11:9596475-9596525	T-47D	breast:	n/a
36	chr11:9596475-9596525	NHBE	bronchial:	n/a
37	chr11:9596475-9596525	GM06990	blood:	n/a
38	chr11:9596475-9596525	Jurkat	blood:	n/a
39	chr11:9596475-9596525	H1-hESC	embryonic stem cell:	embryo
40	chr11:9596475-9596525	ProgFib	skin:	n/a
41	chr11:9596475-9596525	Caco-2	colon:	n/a
42	chr11:9596475-9596525	SKMC	muscle:	n/a
43	chr11:9596475-9596525	PrEC	prostate:	n/a
44	chr11:9596475-9596525	A549	lung:	n/a
45	chr11:9596475-9596525	SAEC	small airway:	n/a
46	chr11:9596475-9596525	SK-N-SH	brain:	n/a
47	chr11:9596475-9596525	HRE	kidney:	n/a
48	chr11:9596475-9596525	IMR90	lung:	fetal
49	chr11:9596475-9596525	HCF	heart:	n/a
50	chr11:9596475-9596525	LNCaP	prostate:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9335962..9338074-chr11:9596330..9598082,2	K562	blood:
2	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
3	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
4	chr11:9595265..9597236-chr11:9601549..9603655,2	MCF-7	breast:
5	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
6	chr11:9481508..9485106-chr11:9595203..9601095,6	MCF-7	breast:
7	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
8	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:

No data

Variant related genes	Relation type
WEE1	TF binding region
ENSG00000238387	TF binding region
ENSG00000238387	CpG island
WEE1	CpG island
ENSG00000166478	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000243964	Chromatin interaction
ENSG00000243869	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv3365334	chr11:9593876-9597474	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	esv3439005	chr11:9593901-9596949	Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	esv3395275	chr11:9594426-9597274	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a
6	esv3330950	chr11:9594801-9597349	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9593600-9596600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:9593600-9598000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:9593800-9596600	Active TSS	Brain Hippocampus Middle	brain
4	chr11:9593800-9597200	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr11:9593800-9597400	Active TSS	A549	lung
6	chr11:9593800-9597800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:9593800-9598200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:9593800-9599000	Active TSS	Psoas Muscle	Psoas
9	chr11:9593800-9599600	Active TSS	Brain Germinal Matrix	brain
10	chr11:9593800-9599800	Active TSS	HSMMtube	muscle
11	chr11:9594000-9597200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:9594000-9597200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:9594000-9597800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:9594000-9597800	Active TSS	Duodenum Mucosa	Duodenum
15	chr11:9594000-9598000	Active TSS	NHEK	skin
16	chr11:9594000-9598200	Active TSS	HSMM	muscle
17	chr11:9594000-9598600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr11:9594000-9598800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:9594000-9599400	Active TSS	Fetal Brain Female	brain
20	chr11:9594200-9596600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:9594200-9596600	Active TSS	Brain Angular Gyrus	brain
22	chr11:9594200-9596600	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:9594200-9596600	Active TSS	Brain Substantia Nigra	brain
24	chr11:9594200-9596600	Active TSS	Fetal Lung	lung
25	chr11:9594200-9596600	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:9594200-9597000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:9594200-9597200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:9594200-9597600	Active TSS	Brain Anterior Caudate	brain
29	chr11:9594200-9597600	Active TSS	Colonic Mucosa	Colon
30	chr11:9594200-9597800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:9594200-9598000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:9594200-9598000	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr11:9594200-9598000	Active TSS	Thymus	Thymus
34	chr11:9594200-9598200	Active TSS	Liver	Liver
35	chr11:9594200-9598400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:9594200-9598400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:9594200-9598400	Active TSS	Left Ventricle	heart
38	chr11:9594200-9598600	Active TSS	Fetal Kidney	kidney
39	chr11:9594200-9599400	Active TSS	Placenta Amnion	Placenta Amnion
40	chr11:9594200-9599600	Active TSS	Ovary	ovary
41	chr11:9594200-9599600	Active TSS	Right Ventricle	heart
42	chr11:9594200-9600000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:9594200-9601200	Active TSS	Aorta	Aorta
44	chr11:9594400-9596600	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr11:9594400-9597000	Active TSS	Gastric	stomach
46	chr11:9594400-9597000	Active TSS	Lung	lung
47	chr11:9594400-9597600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:9594400-9597600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:9594400-9597600	Active TSS	Esophagus	oesophagus
50	chr11:9594400-9597600	Active TSS	Sigmoid Colon	Sigmoid Colon

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