Variant report

Variant	rs6752971
Chromosome Location	chr2:9780352-9780353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9774003..9777519-chr2:9779253..9781345,3	MCF-7	breast:
2	chr2:9780247..9783706-chr2:9899815..9903353,3	K562	blood:
3	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
4	chr2:9779400..9780949-chr2:9782818..9785036,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57272676	0.94[AFR][1000 genomes]
rs7564270	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:57 , 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	chr2:9775000-9782800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:9776400-9782000	Enhancers	HMEC	breast
4	chr2:9776600-9781200	Enhancers	NHDF-Ad	bronchial
5	chr2:9776800-9780600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:9776800-9780600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:9776800-9781000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:9777000-9781000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:9777000-9781000	Enhancers	K562	blood
10	chr2:9777200-9781000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:9777200-9781000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:9777400-9780800	Enhancers	Fetal Heart	heart
13	chr2:9777400-9781000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:9777600-9781000	Enhancers	Ovary	ovary
15	chr2:9777800-9780400	Enhancers	Placenta	Placenta
16	chr2:9777800-9780400	Enhancers	Fetal Stomach	stomach
17	chr2:9777800-9781000	Enhancers	Left Ventricle	heart
18	chr2:9778600-9782800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:9778800-9780400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:9778800-9783800	Weak transcription	Esophagus	oesophagus
21	chr2:9778800-9783800	Weak transcription	Pancreas	Pancrea
22	chr2:9778800-9784000	Weak transcription	Fetal Intestine Large	intestine
23	chr2:9778800-9788400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:9779000-9783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:9779400-9780400	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:9779400-9780400	Weak transcription	NHEK	skin
27	chr2:9779400-9781000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:9779400-9781000	Enhancers	A549	lung
29	chr2:9779400-9782600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:9779400-9784800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:9779400-9786400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:9779600-9780400	Enhancers	Fetal Lung	lung
33	chr2:9779600-9780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:9779600-9780600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:9779600-9780600	Enhancers	NHLF	lung
36	chr2:9779600-9781000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:9779600-9781000	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:9779600-9789400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:9779800-9780800	Enhancers	Brain Anterior Caudate	brain
40	chr2:9779800-9780800	Weak transcription	Hela-S3	cervix
41	chr2:9779800-9781000	Enhancers	Brain Hippocampus Middle	brain
42	chr2:9779800-9781000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:9779800-9783400	Enhancers	Brain Substantia Nigra	brain
44	chr2:9779800-9784400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:9779800-9784400	Weak transcription	Fetal Intestine Small	intestine
46	chr2:9780000-9780400	Enhancers	Right Ventricle	heart
47	chr2:9780000-9780600	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr2:9780000-9781000	Enhancers	Brain Angular Gyrus	brain
49	chr2:9780000-9786400	Weak transcription	HSMMtube	muscle
50	chr2:9780200-9780400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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