Variant report

Variant	rs568684715
Chromosome Location	chr2:9778503-9778504
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	chr2:9778486-9778940	K562	blood:	n/a	n/a
2	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
3	TCF12	chr2:9778438-9779598	A549	lung:	n/a	chr2:9778887-9778896
4	POLR2A	chr2:9778503-9779078	PANC-1	pancreas:	n/a	n/a
5	TCF12	chr2:9778446-9779680	SK-N-SH	brain:	n/a	chr2:9778887-9778896
6	NFIC	chr2:9778463-9779129	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr2:9778469-9779195	A549	lung:	n/a	n/a
8	NFIC	chr2:9778489-9779117	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr2:9778343-9779183	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr2:9778494-9779103	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:9776400..9778601-chr2:9910278..9912270,2	K562	blood:
2	chr2:9695463..9697852-chr2:9776763..9778612,2	K562	blood:
3	chr2:9777094..9779295-chr2:10091033..10093180,2	MCF-7	breast:
4	chr2:9695463..9697852-chr2:9775968..9778612,3	K562	blood:
5	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
6	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240687	TF binding region
ENSG00000134317	Chromatin interaction
ENSG00000243491	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000271855	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:84 , 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	chr2:9777600-9778600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:9777600-9778600	Bivalent Enhancer	HepG2	liver
34	chr2:9777600-9778800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:9777600-9778800	Enhancers	Pancreas	Pancrea
36	chr2:9777600-9778800	Enhancers	Spleen	Spleen
37	chr2:9777600-9779200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:9777600-9779600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:9777600-9779600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:9777600-9779600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:9777600-9779600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:9777600-9779600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:9777600-9779800	Enhancers	Hela-S3	cervix
44	chr2:9777600-9780200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:9777600-9780200	Enhancers	Fetal Muscle Trunk	muscle
46	chr2:9777600-9781000	Enhancers	Ovary	ovary
47	chr2:9777800-9778600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:9777800-9778600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:9777800-9778600	Enhancers	Small Intestine	intestine
50	chr2:9777800-9778800	Flanking Active TSS	Brain Hippocampus Middle	brain

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