Variant report

Variant	rs12622068
Chromosome Location	chr2:47694837-47694838
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47694286..47697091-chr2:47697558..47700055,2	K562	blood:
2	chr2:47689406..47692258-chr2:47693990..47696937,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10514805	0.86[AMR][1000 genomes]
rs12612295	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12621761	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17218041	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17218244	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17218384	0.95[EUR][1000 genomes]
rs17218536	0.95[EUR][1000 genomes]
rs17218592	0.95[EUR][1000 genomes]
rs17218599	0.95[EUR][1000 genomes]
rs17224234	0.85[AMR][1000 genomes]
rs17224276	0.85[AMR][1000 genomes]
rs17224304	0.85[AMR][1000 genomes]
rs28667964	0.95[EUR][1000 genomes]
rs62139725	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv527823	chr2:47645249-47709704	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
3	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
4	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
5	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
6	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:47658000-47707000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:47658000-47714200	Weak transcription	Small Intestine	intestine
10	chr2:47658200-47709200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:47658200-47710400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:47658200-47713400	Weak transcription	Fetal Heart	heart
13	chr2:47658200-47714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:47658200-47714800	Weak transcription	HSMMtube	muscle
15	chr2:47658200-47724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:47658400-47695200	Weak transcription	NHLF	lung
17	chr2:47658400-47713600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:47658400-47716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:47658800-47712600	Weak transcription	Osteobl	bone
20	chr2:47673800-47712400	Weak transcription	NHDF-Ad	bronchial
21	chr2:47674800-47696200	Weak transcription	Lung	lung
22	chr2:47677000-47710800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:47679800-47712600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:47680000-47700000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:47685000-47715000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:47685400-47701200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:47686400-47712600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:47686400-47712600	Strong transcription	Dnd41	blood
29	chr2:47687200-47706800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:47688200-47698200	Weak transcription	HUVEC	blood vessel
31	chr2:47688600-47703000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:47689200-47713000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:47689400-47700800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:47689400-47703000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:47689400-47712800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:47689800-47700200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:47689800-47713000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:47690000-47706800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:47690200-47695400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:47690200-47700400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:47690200-47700800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:47690200-47703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:47690200-47706600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:47690200-47708200	Strong transcription	Fetal Thymus	thymus
45	chr2:47690200-47711000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:47690400-47695200	Strong transcription	Thymus	Thymus
47	chr2:47690400-47696000	Strong transcription	K562	blood
48	chr2:47690400-47698800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:47690800-47696000	Strong transcription	HSMM	muscle
50	chr2:47691000-47702600	Weak transcription	Brain Inferior Temporal Lobe	brain

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