Variant report

Variant	rs555607754
Chromosome Location	chr2:9778675-9778676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:9778626-9779001	K562	blood:	n/a	n/a
2	RAD21	chr2:9778654-9779063	IMR90	lung:	n/a	n/a
3	JUND	chr2:9778637-9779091	K562	blood:	n/a	n/a
4	HMGN3	chr2:9778673-9778933	K562	blood:	n/a	n/a
5	USF1	chr2:9778486-9778940	K562	blood:	n/a	n/a
6	USF1	chr2:9778663-9778967	SK-N-SH_RA	brain:	n/a	n/a
7	NR3C1	chr2:9778568-9779013	A549	lung:	n/a	n/a
8	MAFK	chr2:9778592-9779050	K562	blood:	n/a	n/a
9	FOXA1	chr2:9778639-9778981	HepG2	liver:	n/a	n/a
10	JUND	chr2:9777116-9779756	SK-N-SH	brain:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777534-9777545 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
11	USF1	chr2:9778565-9779077	A549	lung:	n/a	n/a
12	USF1	chr2:9778513-9779048	A549	lung:	n/a	n/a
13	UBTF	chr2:9778648-9778979	K562	blood:	n/a	n/a
14	TEAD4	chr2:9778585-9779080	K562	blood:	n/a	n/a
15	BHLHE40	chr2:9778575-9779051	K562	blood:	n/a	n/a
16	MAX	chr2:9778641-9778984	K562	blood:	n/a	n/a
17	USF1	chr2:9778560-9779057	SK-N-SH	brain:	n/a	n/a
18	USF1	chr2:9778611-9778941	A549	lung:	n/a	n/a
19	RFX5	chr2:9778666-9778988	Hela-S3	cervix:	n/a	n/a
20	USF1	chr2:9778563-9778898	A549	lung:	n/a	n/a
21	MXI1	chr2:9778625-9779071	Hela-S3	cervix:	n/a	n/a
22	FOSL2	chr2:9778600-9779032	HepG2	liver:	n/a	n/a
23	EP300	chr2:9778670-9779070	K562	blood:	n/a	n/a
24	TEAD4	chr2:9778673-9779077	K562	blood:	n/a	n/a
25	TCF12	chr2:9778438-9779598	A549	lung:	n/a	chr2:9778887-9778896
26	POLR2A	chr2:9778503-9779078	PANC-1	pancreas:	n/a	n/a
27	USF1	chr2:9778555-9778918	K562	blood:	n/a	n/a
28	TCF12	chr2:9778446-9779680	SK-N-SH	brain:	n/a	chr2:9778887-9778896
29	NFIC	chr2:9778463-9779129	ECC-1	luminal epithelium:	n/a	n/a
30	USF2	chr2:9778582-9778997	Hela-S3	cervix:	n/a	n/a
31	TRIM28	chr2:9778575-9779056	K562	blood:	n/a	n/a
32	NR3C1	chr2:9778657-9778941	A549	lung:	n/a	n/a
33	MAZ	chr2:9778613-9779000	Hela-S3	cervix:	n/a	n/a
34	MAX	chr2:9778628-9778987	Hela-S3	cervix:	n/a	n/a
35	HCFC1	chr2:9778537-9778851	K562	blood:	n/a	n/a
36	ZNF143	chr2:9778657-9778987	K562	blood:	n/a	n/a
37	MAZ	chr2:9778562-9779039	K562	blood:	n/a	n/a
38	MAX	chr2:9778469-9779195	A549	lung:	n/a	n/a
39	NFIC	chr2:9778489-9779117	ECC-1	luminal epithelium:	n/a	n/a
40	USF1	chr2:9778583-9778914	SK-N-SH_RA	brain:	n/a	n/a
41	RAD21	chr2:9778635-9778993	SK-N-SH_RA	brain:	n/a	n/a
42	FOSL2	chr2:9778579-9779478	A549	lung:	n/a	n/a
43	USF1	chr2:9778631-9778944	A549	lung:	n/a	n/a
44	NFIC	chr2:9778343-9779183	SK-N-SH	brain:	n/a	n/a
45	EP300	chr2:9778636-9778956	SK-N-SH_RA	brain:	n/a	n/a
46	MAX	chr2:9778557-9779126	A549	lung:	n/a	n/a
47	SP1	chr2:9778505-9779089	A549	lung:	n/a	n/a
48	BHLHE40	chr2:9778643-9778972	HepG2	liver:	n/a	n/a
49	MAZ	chr2:9778508-9779133	IMR90	lung:	n/a	n/a
50	POLR2A	chr2:9778572-9779105	U87	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9777094..9779295-chr2:10091033..10093180,2	MCF-7	breast:
2	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
3	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240687	TF binding region
ENSG00000134317	Chromatin interaction
ENSG00000134308	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3401275	chr2:9775301-9779799	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv518363	chr2:9777229-9788315	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9772200-9781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:9772800-9780200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:9775000-9782800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:9776400-9779600	Enhancers	Brain Substantia Nigra	brain
5	chr2:9776400-9782000	Enhancers	HMEC	breast
6	chr2:9776600-9779400	Enhancers	Brain Angular Gyrus	brain
7	chr2:9776600-9780200	Enhancers	HSMM	muscle
8	chr2:9776600-9781200	Enhancers	NHDF-Ad	bronchial
9	chr2:9776800-9779000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:9776800-9779000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:9776800-9779000	Enhancers	NHLF	lung
12	chr2:9776800-9779800	Enhancers	Osteobl	bone
13	chr2:9776800-9780000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:9776800-9780600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:9776800-9780600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:9776800-9781000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:9777000-9778800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:9777000-9779400	Enhancers	NHEK	skin
19	chr2:9777000-9779600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:9777000-9779800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:9777000-9779800	Enhancers	NH-A	brain
22	chr2:9777000-9780000	Enhancers	HSMMtube	muscle
23	chr2:9777000-9781000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:9777000-9781000	Enhancers	K562	blood
25	chr2:9777200-9779200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:9777200-9779400	Enhancers	HUVEC	blood vessel
27	chr2:9777200-9779800	Enhancers	Fetal Muscle Leg	muscle
28	chr2:9777200-9781000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:9777200-9781000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:9777400-9780800	Enhancers	Fetal Heart	heart
31	chr2:9777400-9781000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:9777600-9778800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:9777600-9778800	Enhancers	Pancreas	Pancrea
34	chr2:9777600-9778800	Enhancers	Spleen	Spleen
35	chr2:9777600-9779200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:9777600-9779600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:9777600-9779600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:9777600-9779600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:9777600-9779600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:9777600-9779600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:9777600-9779800	Enhancers	Hela-S3	cervix
42	chr2:9777600-9780200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:9777600-9780200	Enhancers	Fetal Muscle Trunk	muscle
44	chr2:9777600-9781000	Enhancers	Ovary	ovary
45	chr2:9777800-9778800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr2:9777800-9778800	Enhancers	Esophagus	oesophagus
47	chr2:9777800-9779800	Enhancers	Rectal Smooth Muscle	rectum
48	chr2:9777800-9780200	Enhancers	Lung	lung
49	chr2:9777800-9780400	Enhancers	Placenta	Placenta
50	chr2:9777800-9780400	Enhancers	Fetal Stomach	stomach

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