Variant report

Variant	rs573600293
Chromosome Location	chr11:94277002-94277003
allele	-/TCCCTCCCTCCCTCAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:313)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:94276937-94277100	MCF-7	breast:	n/a	n/a
2	TAF1	chr11:94276813-94277474	A549	lung:	n/a	n/a
3	POLR2A	chr11:94276828-94277941	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:94276951-94277116	Spleen_OC	spleen:	n/a	n/a
5	TFAP2A	chr11:94276920-94277740	Hela-S3	cervix:	n/a	chr11:94277327-94277342
6	MAX	chr11:94276463-94278246	HCT-116	colon:	n/a	chr11:94276987-94276997
7	CTCF	chr11:94276860-94277010	SAEC	small airway:	n/a	n/a
8	TCF12	chr11:94276984-94277426	GM12878	blood:	n/a	n/a
9	MAZ	chr11:94276727-94278176	K562	blood:	n/a	chr11:94276987-94276997
10	RELA	chr11:94276144-94277715	GM19193	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
11	POLR2A	chr11:94276783-94277700	K562	blood:	n/a	n/a
12	MAX	chr11:94276783-94277944	GM12878	blood:	n/a	chr11:94276987-94276997
13	POLR2A	chr11:94276731-94278094	GM18526	blood:	n/a	n/a
14	TAF1	chr11:94276871-94277762	K562	blood:	n/a	n/a
15	TBP	chr11:94276825-94277950	H1-hESC	embryonic stem cell:	n/a	n/a
16	EGR1	chr11:94276672-94277794	HCT-116	colon:	n/a	chr11:94277352-94277366 chr11:94276961-94276971
17	CTCF	chr11:94276913-94277137	GM19239	blood:	n/a	n/a
18	POLR2A	chr11:94276324-94278276	GM19193	blood:	n/a	n/a
19	TFAP2C	chr11:94276919-94277848	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:94276736-94277206	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:94276618-94277929	K562	blood:	n/a	n/a
22	POLR2A	chr11:94276856-94277642	H1-neurons	neurons:	n/a	n/a
23	GABPA	chr11:94276776-94277561	HL-60	blood:	n/a	n/a
24	CTCF	chr11:94276980-94277130	HRE	kidney:	n/a	n/a
25	TAF7	chr11:94276943-94277563	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr11:94276666-94278264	K562	blood:	n/a	chr11:94276987-94276997
27	CTCF	chr11:94276979-94277112	K562	blood:	n/a	n/a
28	NFIC	chr11:94276887-94277830	ECC-1	luminal epithelium:	n/a	n/a
29	SRF	chr11:94276791-94277467	ECC-1	luminal epithelium:	n/a	n/a
30	GABPA	chr11:94276878-94277412	MCF-7	breast:	n/a	n/a
31	TCF12	chr11:94276928-94277691	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr11:94276533-94279695	HL-60	blood:	n/a	n/a
33	POLR2A	chr11:94276761-94277844	ECC-1	luminal epithelium:	n/a	n/a
34	ZBTB7A	chr11:94276956-94277723	ECC-1	luminal epithelium:	n/a	chr11:94277243-94277254
35	CTCF	chr11:94276880-94277030	HPAF	blood vessel:	n/a	n/a
36	E2F6	chr11:94276833-94278318	K562	blood:	n/a	chr11:94277003-94277014 chr11:94277092-94277102
37	SIN3A	chr11:94276651-94278975	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:94276870-94277106	K562	blood:	n/a	n/a
39	TBP	chr11:94276737-94278119	K562	blood:	n/a	n/a
40	POLR2A	chr11:94276767-94278145	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:94276916-94277271	U87	brain:	n/a	n/a
42	POLR2A	chr11:94276820-94277609	GM12878	blood:	n/a	n/a
43	REST	chr11:94276772-94277886	HL-60	blood:	n/a	n/a
44	RFX5	chr11:94276938-94277112	GM12878	blood:	n/a	n/a
45	MAX	chr11:94276747-94277196	H1-hESC	embryonic stem cell:	n/a	chr11:94276987-94276997
46	HMGN3	chr11:94276810-94278323	K562	blood:	n/a	n/a
47	MAX	chr11:94276750-94277741	HepG2	liver:	n/a	chr11:94276987-94276997
48	POLR2A	chr11:94276756-94277830	GM12891	blood:	n/a	n/a
49	ELF1	chr11:94276774-94277839	GM12878	blood:	n/a	chr11:94276988-94277000 chr11:94276959-94276971
50	E2F6	chr11:94276759-94277260	A549	lung:	n/a	chr11:94277003-94277014 chr11:94277092-94277102

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:94276960-94277010	AG09319	gingival:	n/a
2	chr11:94276960-94277010	HepG2	liver:	n/a
3	chr11:94276960-94277010	HCM	heart:	n/a
4	chr11:94276960-94277010	HL-60	blood:	n/a
5	chr11:94276960-94277010	LNCaP	prostate:	n/a
6	chr11:94276960-94277010	BE2_C	brain:	n/a
7	chr11:94276960-94277010	HUVEC	blood vessel:	n/a
8	chr11:94276960-94277010	Caco-2	colon:	n/a
9	chr11:94276960-94277010	MCF10A-Er-Src	breast:	n/a
10	chr11:94276960-94277010	ProgFib	skin:	n/a
11	chr11:94276960-94277010	Hela-S3	cervix:	n/a
12	chr11:94276960-94277010	HMEC	breast:	n/a
13	chr11:94276960-94277010	GM06990	blood:	n/a
14	chr11:94276960-94277010	PANC-1	pancreas:	n/a
15	chr11:94276960-94277010	AG04449	skin:	fetal
16	chr11:94276960-94277010	HRE	kidney:	n/a
17	chr11:94276960-94277010	AG09309	skin:	n/a
18	chr11:94276960-94277010	GM12891	blood:	n/a
19	chr11:94276960-94277010	HCF	heart:	n/a
20	chr11:94276960-94277010	HCT-116	colon:	n/a
21	chr11:94276960-94277010	U87	brain:	n/a
22	chr11:94276960-94277010	Hepatocyte	liver:	n/a
23	chr11:94276960-94277010	NHDF-neo	bronchial:	n/a
24	chr11:94276960-94277010	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:94276960-94277010	AG10803	skin:	n/a
26	chr11:94276960-94277010	Jurkat	blood:	n/a
27	chr11:94276960-94277010	SKMC	muscle:	n/a
28	chr11:94276960-94277010	AoSMC	blood vessel:	n/a
29	chr11:94276960-94277010	MCF-7	breast:	n/a
30	chr11:94276960-94277010	NHBE	bronchial:	n/a
31	chr11:94276960-94277010	T-47D	breast:	n/a
32	chr11:94276960-94277010	AG04450	lung:	fetal
33	chr11:94276960-94277010	ECC-1	luminal epithelium:	n/a
34	chr11:94276960-94277010	GM12892	blood:	n/a
35	chr11:94276960-94277010	SK-N-MC	brain:	n/a
36	chr11:94276960-94277010	HEEpiC	esophagus:	n/a
37	chr11:94276960-94277010	SK-N-SH	brain:	n/a
38	chr11:94276960-94277010	SK-N-SH_RA	brain:	n/a
39	chr11:94276960-94277010	GM19239	blood:	n/a
40	chr11:94276960-94277010	ovcar-3	ovarian:	n/a
41	chr11:94276960-94277010	K562	blood:	n/a
42	chr11:94276960-94277010	HCPEpiC	choroid plexus:	n/a
43	chr11:94276960-94277010	NH-A	brain:	n/a
44	chr11:94276960-94277010	NT2-D1	testis:	n/a
45	chr11:94276960-94277010	HNPCEpiC	eye:	n/a
46	chr11:94276960-94277010	H1-hESC	embryonic stem cell:	embryo
47	chr11:94276960-94277010	NB4	blood:	n/a
48	chr11:94276960-94277010	PFSK-1	brain:	n/a
49	chr11:94276960-94277010	BJ	skin:	n/a
50	chr11:94276960-94277010	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
2	chr11:94226771..94229140-chr11:94275887..94279295,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRE11A-3	chr11:94276131-94277949	NONHSAT023724
2	lnc-MRE11A-3	chr11:94275325-94277016	NONHSAT023723

No data

Variant related genes	Relation type
PIWIL4	TF binding region
FUT4	TF binding region
PIWIL4	CpG island
FUT4	CpG island
ENSG00000168876	Chromatin interaction
ENSG00000020922	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390466	chr11:94276729-94279277	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94276200-94277200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr11:94276200-94277800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:94276400-94277200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr11:94276400-94277200	Flanking Active TSS	Colonic Mucosa	Colon
5	chr11:94276400-94277600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:94276400-94279200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:94276400-94279200	Active TSS	Brain Substantia Nigra	brain
8	chr11:94276400-94279600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:94276400-94280000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:94276600-94277200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:94276600-94277200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr11:94276600-94277200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr11:94276600-94277200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:94276600-94277200	Flanking Active TSS	Fetal Thymus	thymus
15	chr11:94276600-94277400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
16	chr11:94276600-94277400	Flanking Active TSS	NH-A	brain
17	chr11:94276600-94277800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:94276600-94277800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:94276600-94278000	Active TSS	Right Ventricle	heart
20	chr11:94276600-94278200	Active TSS	Pancreas	Pancrea
21	chr11:94276600-94278200	Active TSS	Right Atrium	heart
22	chr11:94276600-94278200	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr11:94276600-94278200	Active TSS	A549	lung
24	chr11:94276600-94278400	Active TSS	Fetal Brain Female	brain
25	chr11:94276600-94278600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:94276600-94278600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:94276600-94278600	Active TSS	Psoas Muscle	Psoas
28	chr11:94276600-94278600	Active TSS	NHLF	lung
29	chr11:94276600-94279200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:94276600-94279200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:94276600-94279400	Active TSS	Hela-S3	cervix
32	chr11:94276600-94279600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:94276600-94279600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:94276600-94281000	Active TSS	Aorta	Aorta
35	chr11:94276800-94277200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:94276800-94277200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr11:94276800-94277200	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr11:94276800-94277200	Flanking Active TSS	Placenta	Placenta
39	chr11:94276800-94277200	Flanking Active TSS	NHEK	skin
40	chr11:94276800-94277400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:94276800-94277400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:94276800-94277400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:94276800-94277400	Flanking Active TSS	HMEC	breast
44	chr11:94276800-94277600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:94276800-94277800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:94276800-94277800	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:94276800-94277800	Active TSS	Thymus	Thymus
48	chr11:94276800-94278000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr11:94276800-94278000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:94276800-94278000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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