Variant report

Variant	rs57272676
Chromosome Location	chr2:9777877-9777878
allele	C/G
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	GATA3	chr2:9777255-9777988	SK-N-SH	brain:	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	GATA3	chr2:9777230-9778047	SK-N-SH	brain:	n/a	n/a
4	JUN	chr2:9776563-9777932	K562	blood:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
5	JUND	chr2:9777287-9777878	SK-N-SH	brain:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777534-9777545 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
6	FOSL1	chr2:9777185-9777909	HCT-116	colon:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
7	FOSL2	chr2:9777208-9777879	SK-N-SH	brain:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
8	PBX3	chr2:9777273-9777917	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	chr2:9775999..9777968-chr2:9781245..9783504,2	K562	blood:
5	chr2:9695463..9697852-chr2:9775968..9778612,3	K562	blood:
6	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
7	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240687	TF binding region
ENSG00000151694	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000243491	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000271855	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6752971	0.94[AFR][1000 genomes]
rs7564270	1.00[AFR][1000 genomes]

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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9772000-9778400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:9772200-9781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:9772400-9778000	Weak transcription	Right Atrium	heart
4	chr2:9772800-9780200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:9773000-9778200	Weak transcription	Right Ventricle	heart
6	chr2:9773000-9778400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:9773000-9778400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:9773600-9778000	Weak transcription	Psoas Muscle	Psoas
9	chr2:9774800-9778200	Weak transcription	Fetal Intestine Large	intestine
10	chr2:9775000-9782800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:9776200-9778000	Enhancers	Brain Anterior Caudate	brain
12	chr2:9776200-9778200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:9776400-9778400	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:9776400-9779600	Enhancers	Brain Substantia Nigra	brain
15	chr2:9776400-9782000	Enhancers	HMEC	breast
16	chr2:9776600-9779400	Enhancers	Brain Angular Gyrus	brain
17	chr2:9776600-9780200	Enhancers	HSMM	muscle
18	chr2:9776600-9781200	Enhancers	NHDF-Ad	bronchial
19	chr2:9776800-9778000	Weak transcription	Gastric	stomach
20	chr2:9776800-9779000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:9776800-9779000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:9776800-9779000	Enhancers	NHLF	lung
23	chr2:9776800-9779800	Enhancers	Osteobl	bone
24	chr2:9776800-9780000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:9776800-9780600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:9776800-9780600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:9776800-9781000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:9777000-9778400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:9777000-9778800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:9777000-9779400	Enhancers	NHEK	skin
31	chr2:9777000-9779600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:9777000-9779800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:9777000-9779800	Enhancers	NH-A	brain
34	chr2:9777000-9780000	Enhancers	HSMMtube	muscle
35	chr2:9777000-9781000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:9777000-9781000	Enhancers	K562	blood
37	chr2:9777200-9778000	Enhancers	GM12878-XiMat	blood
38	chr2:9777200-9779200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:9777200-9779400	Enhancers	HUVEC	blood vessel
40	chr2:9777200-9779800	Enhancers	Fetal Muscle Leg	muscle
41	chr2:9777200-9781000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:9777200-9781000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:9777400-9778400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:9777400-9778400	Enhancers	A549	lung
45	chr2:9777400-9780800	Enhancers	Fetal Heart	heart
46	chr2:9777400-9781000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:9777600-9778000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:9777600-9778600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:9777600-9778600	Bivalent Enhancer	HepG2	liver
50	chr2:9777600-9778800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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