Variant report

Variant	rs60814186
Chromosome Location	chr7:4752990-4752991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4680155..4683221-chr7:4751586..4755300,3	MCF-7	breast:
2	chr7:4750973..4755247-chr7:4763506..4767347,8	MCF-7	breast:
3	chr7:4752847..4756783-chr7:4756924..4763457,6	MCF-7	breast:
4	chr7:4721960..4723478-chr7:4752551..4755060,2	MCF-7	breast:
5	chr7:4729439..4732176-chr7:4751934..4754179,2	MCF-7	breast:
6	chr7:4721886..4725324-chr7:4750034..4753367,6	MCF-7	breast:
7	chr7:4735653..4738746-chr7:4749677..4753916,3	K562	blood:
8	chr7:4747719..4749833-chr7:4750437..4753024,2	K562	blood:
9	chr7:4752121..4753899-chr7:4754504..4756901,2	MCF-7	breast:
10	chr7:4752699..4756529-chr7:4767916..4770424,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11541132	1.00[AMR][1000 genomes]
rs4607503	0.96[AFR][1000 genomes]
rs56025211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57323934	1.00[AMR][1000 genomes]
rs59325270	0.93[AFR][1000 genomes]
rs60440111	0.89[AFR][1000 genomes]
rs61269946	1.00[AMR][1000 genomes]
rs6947096	1.00[AMR][1000 genomes]
rs73303367	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303373	0.96[AFR][1000 genomes]
rs73303376	0.96[AFR][1000 genomes]
rs73305304	1.00[AMR][1000 genomes]
rs73305322	1.00[AMR][1000 genomes]
rs73305327	1.00[AMR][1000 genomes]
rs73305336	1.00[AMR][1000 genomes]
rs73305389	1.00[AMR][1000 genomes]
rs73305393	1.00[AMR][1000 genomes]
rs73310599	1.00[AMR][1000 genomes]
rs73312647	1.00[AMR][1000 genomes]
rs73316110	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1019692	chr7:4724310-4756406	Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4725800-4754000	Weak transcription	HMEC	breast
2	chr7:4730200-4755800	Weak transcription	Thymus	Thymus
3	chr7:4730800-4761600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:4740600-4757400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:4743400-4754800	Weak transcription	Aorta	Aorta
6	chr7:4743800-4763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:4746000-4754400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:4746600-4753200	Enhancers	Right Ventricle	heart
9	chr7:4747000-4754400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:4747400-4764600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:4747800-4753800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:4747800-4754000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:4748000-4757600	Weak transcription	Fetal Brain Male	brain
14	chr7:4748400-4754400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:4748800-4756400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:4749000-4754600	Weak transcription	Brain Germinal Matrix	brain
17	chr7:4749000-4763600	Weak transcription	HUVEC	blood vessel
18	chr7:4749400-4754400	Weak transcription	Brain Angular Gyrus	brain
19	chr7:4749400-4755800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:4749600-4754000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:4749600-4754200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr7:4749800-4757200	Weak transcription	Hela-S3	cervix
23	chr7:4750600-4753000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:4750600-4753600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:4750800-4753400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:4750800-4753400	Enhancers	Left Ventricle	heart
27	chr7:4750800-4753400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:4750800-4753600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:4751200-4754400	Weak transcription	NHEK	skin
30	chr7:4751200-4754600	Weak transcription	Esophagus	oesophagus
31	chr7:4751200-4755000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:4751200-4756200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr7:4751200-4756800	Weak transcription	Dnd41	blood
34	chr7:4751400-4753000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:4751400-4753000	Enhancers	Duodenum Mucosa	Duodenum
36	chr7:4751400-4753400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:4751400-4754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:4751600-4753600	Weak transcription	Right Atrium	heart
39	chr7:4751600-4754000	Weak transcription	Pancreas	Pancrea
40	chr7:4751600-4754400	Weak transcription	Ovary	ovary
41	chr7:4751600-4757400	Enhancers	Lung	lung
42	chr7:4751600-4761800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:4751800-4753000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:4751800-4753000	Flanking Active TSS	GM12878-XiMat	blood
45	chr7:4751800-4753000	Enhancers	Osteobl	bone
46	chr7:4751800-4753200	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:4751800-4753200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:4751800-4753200	Enhancers	Liver	Liver
49	chr7:4751800-4753200	Enhancers	NH-A	brain
50	chr7:4751800-4753400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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